Incidental Mutation 'R1470:Xdh'
| ID |
165870 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Xdh
|
| Ensembl Gene |
ENSMUSG00000024066 |
| Gene Name |
xanthine dehydrogenase |
| Synonyms |
Xox-1, XO, Xor, Xox1, xanthine oxidase |
| MMRRC Submission |
039523-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.453)
|
| Stock # |
R1470 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
74190890-74257191 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 74198107 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Threonine
at position 1260
(K1260T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024866
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024866]
|
| AlphaFold |
Q00519 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000024866
AA Change: K1260T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000024866
Gene: ENSMUSG00000024066
AA Change: K1260T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Fer2
|
11 |
81 |
5e-12 |
PFAM |
|
Pfam:Fer2_2
|
90 |
163 |
4.1e-31 |
PFAM |
|
low complexity region
|
169 |
182 |
N/A |
INTRINSIC |
|
Pfam:FAD_binding_5
|
234 |
414 |
4.9e-47 |
PFAM |
|
CO_deh_flav_C
|
421 |
525 |
1.16e-24 |
SMART |
|
Ald_Xan_dh_C
|
590 |
696 |
1.23e-46 |
SMART |
|
Pfam:Ald_Xan_dh_C2
|
704 |
1239 |
1e-200 |
PFAM |
|
| Meta Mutation Damage Score |
0.9186 |
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 98.4%
- 10x: 90.6%
- 20x: 68.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the xanthine dehydrogenase protein family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. The encoded protein exists as two distinct enzymatic forms, either as xanthine dehydrogenase, or as xanthine oxidase, and functions in purine degradation. Additional studies also suggest a role in adipogenesis, and a function as a structural protein in milk fat droplets in the lactating mammary gland. [provided by RefSeq, Jan 2014]
PHENOTYPE: Homozygotes for a null allele are small and die prematurely while heterozygous females show a lactation defect. Most homozygotes for another null allele die within the first month of renal failure associated with uric acid depletion, renal tubular damage, inflammation, fibrosis and oxidative stress. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 123 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aak1 |
T |
A |
6: 86,944,337 (GRCm39) |
S749T |
unknown |
Het |
| Abcb4 |
A |
T |
5: 8,990,968 (GRCm39) |
I843F |
probably damaging |
Het |
| Actr8 |
T |
A |
14: 29,708,926 (GRCm39) |
H244Q |
possibly damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,530,417 (GRCm39) |
Y5886H |
probably benign |
Het |
| Agk |
T |
A |
6: 40,363,751 (GRCm39) |
W244R |
probably damaging |
Het |
| Ankrd11 |
C |
A |
8: 123,626,463 (GRCm39) |
V161L |
probably damaging |
Het |
| Arap3 |
T |
C |
18: 38,122,249 (GRCm39) |
|
probably null |
Het |
| Armc3 |
A |
G |
2: 19,243,547 (GRCm39) |
M88V |
probably benign |
Het |
| Atp13a5 |
G |
T |
16: 29,167,833 (GRCm39) |
P109T |
probably benign |
Het |
| Avpr1b |
T |
A |
1: 131,528,323 (GRCm39) |
V282D |
probably damaging |
Het |
| Baz2b |
T |
C |
2: 59,808,890 (GRCm39) |
K120E |
possibly damaging |
Het |
| Bltp1 |
T |
C |
3: 37,052,480 (GRCm39) |
M3060T |
probably benign |
Het |
| Cacng6 |
G |
A |
7: 3,473,404 (GRCm39) |
C76Y |
probably damaging |
Het |
| Cactin |
G |
T |
10: 81,158,985 (GRCm39) |
E279* |
probably null |
Het |
| Car9 |
A |
G |
4: 43,510,222 (GRCm39) |
Y268C |
probably damaging |
Het |
| Ccdc146 |
T |
A |
5: 21,524,564 (GRCm39) |
I263F |
probably damaging |
Het |
| Cdh16 |
T |
G |
8: 105,345,003 (GRCm39) |
S429R |
probably benign |
Het |
| Cep250 |
A |
G |
2: 155,832,995 (GRCm39) |
E1639G |
probably damaging |
Het |
| Ces1d |
A |
T |
8: 93,921,649 (GRCm39) |
V38D |
possibly damaging |
Het |
| Chd1 |
A |
T |
17: 15,946,545 (GRCm39) |
Q97L |
possibly damaging |
Het |
| Ciita |
G |
A |
16: 10,332,332 (GRCm39) |
D898N |
possibly damaging |
Het |
| Clstn1 |
A |
G |
4: 149,719,179 (GRCm39) |
N336S |
possibly damaging |
Het |
| Cntnap5a |
A |
G |
1: 116,187,249 (GRCm39) |
D607G |
probably damaging |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Col20a1 |
C |
T |
2: 180,636,753 (GRCm39) |
H245Y |
probably benign |
Het |
| Coq8b |
A |
T |
7: 26,951,734 (GRCm39) |
T399S |
probably benign |
Het |
| Cpn2 |
A |
G |
16: 30,079,003 (GRCm39) |
S233P |
probably benign |
Het |
| Cryz |
G |
A |
3: 154,312,113 (GRCm39) |
G70D |
probably damaging |
Het |
| Def6 |
T |
A |
17: 28,444,956 (GRCm39) |
D451E |
possibly damaging |
Het |
| Dnah8 |
T |
A |
17: 30,966,251 (GRCm39) |
C2480* |
probably null |
Het |
| Dnah9 |
T |
C |
11: 65,818,648 (GRCm39) |
N3230S |
probably benign |
Het |
| Dyrk4 |
G |
T |
6: 126,893,337 (GRCm39) |
S15* |
probably null |
Het |
| Erc1 |
T |
C |
6: 119,671,563 (GRCm39) |
R917G |
probably damaging |
Het |
| Frem3 |
G |
T |
8: 81,337,820 (GRCm39) |
V38L |
probably benign |
Het |
| Gas2l3 |
T |
C |
10: 89,249,796 (GRCm39) |
I441V |
probably benign |
Het |
| Gm14393 |
T |
A |
2: 174,905,774 (GRCm39) |
Y6F |
probably damaging |
Het |
| Gm1527 |
A |
G |
3: 28,969,417 (GRCm39) |
K256E |
possibly damaging |
Het |
| Gm21905 |
G |
T |
5: 68,103,740 (GRCm39) |
|
probably benign |
Het |
| Gtf2ird1 |
T |
A |
5: 134,424,656 (GRCm39) |
|
probably null |
Het |
| Hmces |
C |
A |
6: 87,913,121 (GRCm39) |
T292K |
probably benign |
Het |
| Hpse2 |
G |
A |
19: 43,376,692 (GRCm39) |
S20L |
probably benign |
Het |
| Ift70b |
G |
T |
2: 75,768,155 (GRCm39) |
S199R |
probably benign |
Het |
| Ikbke |
A |
T |
1: 131,204,224 (GRCm39) |
V23E |
probably null |
Het |
| Ino80 |
A |
T |
2: 119,210,130 (GRCm39) |
V1387E |
probably damaging |
Het |
| Islr |
G |
T |
9: 58,064,589 (GRCm39) |
A306D |
probably damaging |
Het |
| Jakmip1 |
G |
A |
5: 37,258,182 (GRCm39) |
G276D |
probably damaging |
Het |
| Jchain |
A |
G |
5: 88,673,979 (GRCm39) |
V55A |
probably benign |
Het |
| Kalrn |
T |
C |
16: 34,007,841 (GRCm39) |
K1350E |
probably damaging |
Het |
| Kansl1l |
T |
C |
1: 66,841,156 (GRCm39) |
Q48R |
possibly damaging |
Het |
| Kmt5a |
T |
C |
5: 124,585,334 (GRCm39) |
L23P |
probably damaging |
Het |
| Lrba |
C |
T |
3: 86,644,449 (GRCm39) |
H381Y |
probably damaging |
Het |
| Lrrc32 |
T |
C |
7: 98,148,564 (GRCm39) |
V448A |
probably benign |
Het |
| Mapkbp1 |
T |
C |
2: 119,848,301 (GRCm39) |
M617T |
probably damaging |
Het |
| Mfap1a |
T |
C |
2: 121,333,282 (GRCm39) |
M50V |
probably benign |
Het |
| Mgam |
G |
T |
6: 40,736,062 (GRCm39) |
A854S |
probably damaging |
Het |
| Myo18b |
C |
A |
5: 112,840,899 (GRCm39) |
R2298L |
probably damaging |
Het |
| Myo1h |
T |
A |
5: 114,457,765 (GRCm39) |
M92K |
probably damaging |
Het |
| Nlrp2 |
T |
A |
7: 5,303,950 (GRCm39) |
T192S |
probably benign |
Het |
| Nr2f1 |
A |
T |
13: 78,346,284 (GRCm39) |
Y137N |
possibly damaging |
Het |
| Nup98 |
T |
A |
7: 101,796,513 (GRCm39) |
D841V |
probably damaging |
Het |
| Nvl |
A |
G |
1: 180,966,827 (GRCm39) |
V59A |
probably damaging |
Het |
| Ogdhl |
C |
A |
14: 32,068,745 (GRCm39) |
N948K |
probably damaging |
Het |
| Or11g27 |
T |
C |
14: 50,771,159 (GRCm39) |
S97P |
possibly damaging |
Het |
| Or12j3 |
A |
G |
7: 139,953,026 (GRCm39) |
S166P |
probably benign |
Het |
| Or13a24 |
A |
G |
7: 140,154,662 (GRCm39) |
T199A |
probably benign |
Het |
| Or51g1 |
A |
C |
7: 102,633,530 (GRCm39) |
Y280* |
probably null |
Het |
| Osgin1 |
G |
A |
8: 120,171,704 (GRCm39) |
R166H |
probably damaging |
Het |
| Palb2 |
A |
T |
7: 121,706,746 (GRCm39) |
F741I |
probably benign |
Het |
| Palb2 |
G |
T |
7: 121,706,747 (GRCm39) |
Y740* |
probably null |
Het |
| Parvb |
G |
A |
15: 84,155,509 (GRCm39) |
D65N |
probably benign |
Het |
| Parvb |
G |
A |
15: 84,155,453 (GRCm39) |
G46D |
probably damaging |
Het |
| Pcsk2 |
A |
T |
2: 143,388,438 (GRCm39) |
K10* |
probably null |
Het |
| Pde3a |
C |
T |
6: 141,411,932 (GRCm39) |
A502V |
probably benign |
Het |
| Pfas |
T |
C |
11: 68,882,185 (GRCm39) |
I893V |
probably benign |
Het |
| Pla2g4a |
A |
T |
1: 149,716,471 (GRCm39) |
D663E |
probably damaging |
Het |
| Prickle2 |
G |
A |
6: 92,435,583 (GRCm39) |
P6L |
probably damaging |
Het |
| Prx |
T |
A |
7: 27,217,026 (GRCm39) |
M648K |
probably benign |
Het |
| Ptpn21 |
T |
C |
12: 98,654,735 (GRCm39) |
N744S |
probably benign |
Het |
| Ptprq |
C |
T |
10: 107,554,435 (GRCm39) |
V97M |
probably damaging |
Het |
| Pvr |
T |
C |
7: 19,652,549 (GRCm39) |
E122G |
possibly damaging |
Het |
| Racgap1 |
T |
C |
15: 99,537,656 (GRCm39) |
K15E |
probably damaging |
Het |
| Rock1 |
C |
T |
18: 10,136,091 (GRCm39) |
|
probably null |
Het |
| Rorc |
T |
A |
3: 94,304,609 (GRCm39) |
Y331* |
probably null |
Het |
| Rpl37 |
T |
C |
15: 5,148,096 (GRCm39) |
V91A |
probably benign |
Het |
| Rrp36 |
T |
A |
17: 46,983,306 (GRCm39) |
K103* |
probably null |
Het |
| Ryr3 |
T |
A |
2: 112,483,352 (GRCm39) |
M4142L |
probably benign |
Het |
| Sash1 |
A |
T |
10: 8,665,357 (GRCm39) |
L125H |
probably damaging |
Het |
| Scn5a |
T |
C |
9: 119,365,541 (GRCm39) |
M369V |
possibly damaging |
Het |
| Sfi1 |
TCGC |
TC |
11: 3,096,254 (GRCm39) |
|
probably null |
Het |
| Sfi1 |
C |
CT |
11: 3,096,255 (GRCm39) |
|
probably null |
Het |
| Siglec1 |
A |
T |
2: 130,912,307 (GRCm39) |
N1678K |
probably benign |
Het |
| Slc15a5 |
A |
T |
6: 138,049,992 (GRCm39) |
V141E |
probably benign |
Het |
| Slc8a3 |
A |
T |
12: 81,246,484 (GRCm39) |
H856Q |
probably benign |
Het |
| Sptlc2 |
T |
A |
12: 87,402,414 (GRCm39) |
M171L |
probably benign |
Het |
| Srcap |
T |
A |
7: 127,158,899 (GRCm39) |
|
probably benign |
Het |
| St6gal2 |
A |
G |
17: 55,797,944 (GRCm39) |
D310G |
probably damaging |
Het |
| Susd2 |
T |
A |
10: 75,473,888 (GRCm39) |
D689V |
probably damaging |
Het |
| Suz12 |
A |
T |
11: 79,910,558 (GRCm39) |
E303V |
possibly damaging |
Het |
| Taldo1 |
C |
A |
7: 140,978,500 (GRCm39) |
T150K |
probably damaging |
Het |
| Tg |
T |
A |
15: 66,721,312 (GRCm39) |
F274I |
possibly damaging |
Het |
| Tmem151b |
T |
C |
17: 45,856,663 (GRCm39) |
D259G |
probably damaging |
Het |
| Tmem179 |
G |
T |
12: 112,468,288 (GRCm39) |
H64Q |
probably benign |
Het |
| Tmem236 |
A |
G |
2: 14,223,732 (GRCm39) |
T174A |
probably benign |
Het |
| Tnc |
A |
T |
4: 63,884,811 (GRCm39) |
N1821K |
probably damaging |
Het |
| Tnfrsf11a |
A |
G |
1: 105,752,773 (GRCm39) |
N261S |
probably damaging |
Het |
| Trank1 |
C |
A |
9: 111,172,300 (GRCm39) |
F96L |
possibly damaging |
Het |
| Trim56 |
T |
A |
5: 137,142,017 (GRCm39) |
I500F |
probably damaging |
Het |
| Ttll5 |
A |
G |
12: 85,926,168 (GRCm39) |
I321V |
possibly damaging |
Het |
| Ttn |
C |
A |
2: 76,608,367 (GRCm39) |
W17852L |
probably damaging |
Het |
| Twnk |
G |
A |
19: 44,997,820 (GRCm39) |
V450M |
probably damaging |
Het |
| Uba52 |
A |
G |
8: 70,962,206 (GRCm39) |
I127T |
possibly damaging |
Het |
| Ubr4 |
T |
A |
4: 139,148,537 (GRCm39) |
|
probably null |
Het |
| Uggt1 |
A |
T |
1: 36,215,877 (GRCm39) |
M130K |
probably benign |
Het |
| Ulk4 |
T |
A |
9: 120,910,722 (GRCm39) |
T1101S |
probably benign |
Het |
| Urb1 |
A |
G |
16: 90,548,902 (GRCm39) |
S2269P |
probably benign |
Het |
| Ush2a |
G |
T |
1: 188,132,403 (GRCm39) |
R875L |
probably benign |
Het |
| Usp9y |
T |
A |
Y: 1,332,471 (GRCm39) |
H1624L |
probably benign |
Het |
| Vipr1 |
T |
C |
9: 121,494,586 (GRCm39) |
L308S |
possibly damaging |
Het |
| Yipf4 |
A |
G |
17: 74,800,963 (GRCm39) |
I94V |
probably benign |
Het |
| Zfhx4 |
A |
G |
3: 5,478,206 (GRCm39) |
*3582W |
probably null |
Het |
| Zfp58 |
T |
C |
13: 67,640,144 (GRCm39) |
N116D |
possibly damaging |
Het |
| Zfp750 |
C |
A |
11: 121,402,819 (GRCm39) |
R643L |
probably benign |
Het |
| Znfx1 |
A |
G |
2: 166,884,507 (GRCm39) |
V51A |
possibly damaging |
Het |
|
| Other mutations in Xdh |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00493:Xdh
|
APN |
17 |
74,230,101 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
IGL00556:Xdh
|
APN |
17 |
74,191,430 (GRCm39) |
makesense |
probably null |
|
|
IGL01524:Xdh
|
APN |
17 |
74,230,132 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL01604:Xdh
|
APN |
17 |
74,216,332 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01625:Xdh
|
APN |
17 |
74,223,781 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01778:Xdh
|
APN |
17 |
74,207,275 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01804:Xdh
|
APN |
17 |
74,199,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01825:Xdh
|
APN |
17 |
74,198,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01929:Xdh
|
APN |
17 |
74,241,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02068:Xdh
|
APN |
17 |
74,220,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02079:Xdh
|
APN |
17 |
74,198,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02210:Xdh
|
APN |
17 |
74,250,890 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02261:Xdh
|
APN |
17 |
74,220,960 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL02365:Xdh
|
APN |
17 |
74,250,885 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL02424:Xdh
|
APN |
17 |
74,233,565 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02491:Xdh
|
APN |
17 |
74,193,459 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02525:Xdh
|
APN |
17 |
74,231,990 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02578:Xdh
|
APN |
17 |
74,213,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02793:Xdh
|
APN |
17 |
74,207,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02939:Xdh
|
APN |
17 |
74,250,840 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03327:Xdh
|
APN |
17 |
74,223,787 (GRCm39) |
missense |
probably benign |
|
|
IGL03345:Xdh
|
APN |
17 |
74,213,027 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03353:Xdh
|
APN |
17 |
74,202,781 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
inky
|
UTSW |
17 |
74,228,346 (GRCm39) |
missense |
probably damaging |
1.00 |
|
nucleus
|
UTSW |
17 |
74,206,007 (GRCm39) |
nonsense |
probably null |
|
|
squidgame
|
UTSW |
17 |
74,246,831 (GRCm39) |
missense |
probably benign |
|
|
R0018:Xdh
|
UTSW |
17 |
74,232,020 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0018:Xdh
|
UTSW |
17 |
74,232,020 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0033:Xdh
|
UTSW |
17 |
74,214,627 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0079:Xdh
|
UTSW |
17 |
74,198,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0086:Xdh
|
UTSW |
17 |
74,191,433 (GRCm39) |
missense |
probably benign |
|
|
R0319:Xdh
|
UTSW |
17 |
74,213,096 (GRCm39) |
splice site |
probably benign |
|
|
R0336:Xdh
|
UTSW |
17 |
74,229,458 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0389:Xdh
|
UTSW |
17 |
74,205,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0684:Xdh
|
UTSW |
17 |
74,250,886 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0930:Xdh
|
UTSW |
17 |
74,230,077 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1073:Xdh
|
UTSW |
17 |
74,246,831 (GRCm39) |
missense |
probably benign |
|
|
R1114:Xdh
|
UTSW |
17 |
74,248,144 (GRCm39) |
splice site |
probably benign |
|
|
R1201:Xdh
|
UTSW |
17 |
74,225,413 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1230:Xdh
|
UTSW |
17 |
74,198,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1351:Xdh
|
UTSW |
17 |
74,230,073 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1470:Xdh
|
UTSW |
17 |
74,198,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1485:Xdh
|
UTSW |
17 |
74,221,014 (GRCm39) |
nonsense |
probably null |
|
|
R1548:Xdh
|
UTSW |
17 |
74,220,896 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1637:Xdh
|
UTSW |
17 |
74,207,573 (GRCm39) |
missense |
probably benign |
|
|
R1641:Xdh
|
UTSW |
17 |
74,233,547 (GRCm39) |
missense |
probably benign |
|
|
R1758:Xdh
|
UTSW |
17 |
74,217,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1951:Xdh
|
UTSW |
17 |
74,214,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1969:Xdh
|
UTSW |
17 |
74,199,746 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R2024:Xdh
|
UTSW |
17 |
74,228,300 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2080:Xdh
|
UTSW |
17 |
74,216,320 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2157:Xdh
|
UTSW |
17 |
74,229,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2300:Xdh
|
UTSW |
17 |
74,198,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3783:Xdh
|
UTSW |
17 |
74,200,590 (GRCm39) |
splice site |
probably benign |
|
|
R3796:Xdh
|
UTSW |
17 |
74,214,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3797:Xdh
|
UTSW |
17 |
74,214,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3798:Xdh
|
UTSW |
17 |
74,214,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3799:Xdh
|
UTSW |
17 |
74,214,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3819:Xdh
|
UTSW |
17 |
74,213,720 (GRCm39) |
missense |
probably benign |
0.35 |
|
R4085:Xdh
|
UTSW |
17 |
74,223,874 (GRCm39) |
missense |
probably benign |
0.35 |
|
R4240:Xdh
|
UTSW |
17 |
74,202,790 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R4356:Xdh
|
UTSW |
17 |
74,222,685 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4522:Xdh
|
UTSW |
17 |
74,205,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4523:Xdh
|
UTSW |
17 |
74,205,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4524:Xdh
|
UTSW |
17 |
74,205,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4600:Xdh
|
UTSW |
17 |
74,217,195 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4617:Xdh
|
UTSW |
17 |
74,225,389 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4756:Xdh
|
UTSW |
17 |
74,193,381 (GRCm39) |
missense |
probably benign |
0.24 |
|
R4761:Xdh
|
UTSW |
17 |
74,217,262 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4815:Xdh
|
UTSW |
17 |
74,213,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4850:Xdh
|
UTSW |
17 |
74,205,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4896:Xdh
|
UTSW |
17 |
74,217,238 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4897:Xdh
|
UTSW |
17 |
74,207,703 (GRCm39) |
missense |
probably benign |
|
|
R4923:Xdh
|
UTSW |
17 |
74,231,931 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R4977:Xdh
|
UTSW |
17 |
74,205,965 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5030:Xdh
|
UTSW |
17 |
74,198,288 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5185:Xdh
|
UTSW |
17 |
74,232,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5347:Xdh
|
UTSW |
17 |
74,232,027 (GRCm39) |
missense |
probably benign |
|
|
R5556:Xdh
|
UTSW |
17 |
74,204,759 (GRCm39) |
missense |
probably benign |
0.21 |
|
R5566:Xdh
|
UTSW |
17 |
74,200,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5568:Xdh
|
UTSW |
17 |
74,250,880 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5635:Xdh
|
UTSW |
17 |
74,220,870 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5662:Xdh
|
UTSW |
17 |
74,248,110 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5955:Xdh
|
UTSW |
17 |
74,205,315 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6058:Xdh
|
UTSW |
17 |
74,213,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6061:Xdh
|
UTSW |
17 |
74,228,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6412:Xdh
|
UTSW |
17 |
74,242,902 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6526:Xdh
|
UTSW |
17 |
74,207,546 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6558:Xdh
|
UTSW |
17 |
74,200,708 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6843:Xdh
|
UTSW |
17 |
74,230,125 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6932:Xdh
|
UTSW |
17 |
74,229,557 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7028:Xdh
|
UTSW |
17 |
74,250,868 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7418:Xdh
|
UTSW |
17 |
74,220,960 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7503:Xdh
|
UTSW |
17 |
74,233,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7653:Xdh
|
UTSW |
17 |
74,204,040 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7763:Xdh
|
UTSW |
17 |
74,241,829 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7768:Xdh
|
UTSW |
17 |
74,246,831 (GRCm39) |
missense |
probably benign |
|
|
R7904:Xdh
|
UTSW |
17 |
74,229,467 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8010:Xdh
|
UTSW |
17 |
74,216,312 (GRCm39) |
nonsense |
probably null |
|
|
R8067:Xdh
|
UTSW |
17 |
74,207,652 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8238:Xdh
|
UTSW |
17 |
74,193,412 (GRCm39) |
missense |
probably benign |
|
|
R8253:Xdh
|
UTSW |
17 |
74,225,377 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8346:Xdh
|
UTSW |
17 |
74,220,938 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8350:Xdh
|
UTSW |
17 |
74,241,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8381:Xdh
|
UTSW |
17 |
74,219,456 (GRCm39) |
missense |
probably benign |
|
|
R8427:Xdh
|
UTSW |
17 |
74,242,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8465:Xdh
|
UTSW |
17 |
74,206,007 (GRCm39) |
nonsense |
probably null |
|
|
R8478:Xdh
|
UTSW |
17 |
74,213,053 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8680:Xdh
|
UTSW |
17 |
74,229,500 (GRCm39) |
missense |
probably benign |
|
|
R8802:Xdh
|
UTSW |
17 |
74,225,405 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8984:Xdh
|
UTSW |
17 |
74,228,346 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8985:Xdh
|
UTSW |
17 |
74,228,346 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8995:Xdh
|
UTSW |
17 |
74,205,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9035:Xdh
|
UTSW |
17 |
74,217,222 (GRCm39) |
missense |
probably benign |
|
|
R9149:Xdh
|
UTSW |
17 |
74,222,688 (GRCm39) |
missense |
probably benign |
|
|
R9181:Xdh
|
UTSW |
17 |
74,232,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9357:Xdh
|
UTSW |
17 |
74,233,541 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9357:Xdh
|
UTSW |
17 |
74,214,711 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9609:Xdh
|
UTSW |
17 |
74,231,990 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9803:Xdh
|
UTSW |
17 |
74,229,455 (GRCm39) |
missense |
probably benign |
|
|
X0019:Xdh
|
UTSW |
17 |
74,225,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Xdh
|
UTSW |
17 |
74,193,423 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Xdh
|
UTSW |
17 |
74,230,037 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1177:Xdh
|
UTSW |
17 |
74,204,690 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAAGATGTGTTCTCCTGAGCCCG -3'
(R):5'- ACAGAGGGATGCTCTGCTTGAGAC -3'
Sequencing Primer
(F):5'- CCTGAGCCCGATTCCTTTG -3'
(R):5'- GGTGGTAACCATGATAACCTTCTG -3'
|
| Posted On |
2014-03-28 |
Incidental Mutation