Incidental Mutation 'R7737:Kdm7a'
| ID |
596314 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kdm7a
|
| Ensembl Gene |
ENSMUSG00000042599 |
| Gene Name |
lysine (K)-specific demethylase 7A |
| Synonyms |
Kdm7a, Jhdm1d, ENSMUSG00000073143, A630082K20Rik |
| MMRRC Submission |
045793-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7737 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
39136623-39206789 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 39144404 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 872
(N872K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002305
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002305]
|
| AlphaFold |
Q3UWM4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002305
AA Change: N872K
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000002305
Gene: ENSMUSG00000042599
AA Change: N872K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
38 |
N/A |
INTRINSIC |
|
PHD
|
39 |
86 |
8.64e-9 |
SMART |
|
low complexity region
|
186 |
197 |
N/A |
INTRINSIC |
|
JmjC
|
230 |
386 |
1.09e-49 |
SMART |
|
low complexity region
|
408 |
419 |
N/A |
INTRINSIC |
|
low complexity region
|
653 |
668 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (63/64) |
| MGI Phenotype |
PHENOTYPE: Homozygous mutants exhibit abnormal hair follicle, tail, sebaceous gland, rib, and vertebrae morphology and decreased circulating iron levels. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts18 |
A |
T |
8: 113,736,934 (GRCm38) |
|
probably null |
Het |
| Akap3 |
T |
A |
6: 126,874,102 (GRCm38) |
M861K |
probably damaging |
Het |
| Ankrd42 |
T |
C |
7: 92,605,262 (GRCm38) |
T380A |
possibly damaging |
Het |
| Arhgef5 |
A |
G |
6: 43,273,794 (GRCm38) |
E493G |
possibly damaging |
Het |
| Arvcf |
G |
A |
16: 18,397,101 (GRCm38) |
R119Q |
probably damaging |
Het |
| Asmt |
T |
C |
X: 170,676,440 (GRCm38) |
F228S |
probably damaging |
Het |
| Atp2c2 |
T |
A |
8: 119,742,395 (GRCm38) |
V349E |
probably damaging |
Het |
| BC034090 |
A |
G |
1: 155,241,673 (GRCm38) |
V233A |
possibly damaging |
Het |
| Brinp3 |
G |
T |
1: 146,682,594 (GRCm38) |
K85N |
probably damaging |
Het |
| Ccr6 |
G |
A |
17: 8,245,094 (GRCm38) |
|
probably benign |
Het |
| D7Ertd443e |
A |
G |
7: 134,270,201 (GRCm38) |
S644P |
probably damaging |
Het |
| Ddb1 |
C |
T |
19: 10,625,974 (GRCm38) |
A882V |
possibly damaging |
Het |
| Epha4 |
C |
T |
1: 77,381,012 (GRCm38) |
G783D |
probably damaging |
Het |
| Ephb1 |
T |
A |
9: 101,984,103 (GRCm38) |
I621F |
probably damaging |
Het |
| Fbxw18 |
G |
T |
9: 109,701,263 (GRCm38) |
Y93* |
probably null |
Het |
| Fcgbpl1 |
T |
A |
7: 28,157,073 (GRCm38) |
V2095E |
probably damaging |
Het |
| Gak |
A |
C |
5: 108,617,008 (GRCm38) |
L84R |
probably benign |
Het |
| Gm5458 |
A |
T |
14: 19,599,737 (GRCm38) |
|
probably null |
Het |
| Gpatch3 |
C |
G |
4: 133,575,096 (GRCm38) |
Q113E |
probably benign |
Het |
| Gpld1 |
C |
A |
13: 24,975,726 (GRCm38) |
L426M |
probably damaging |
Het |
| Ighmbp2 |
G |
A |
19: 3,274,467 (GRCm38) |
P234S |
unknown |
Het |
| Itga6 |
G |
A |
2: 71,822,443 (GRCm38) |
V217I |
probably benign |
Het |
| Klhl14 |
G |
T |
18: 21,558,134 (GRCm38) |
Y446* |
probably null |
Het |
| Larp4b |
T |
A |
13: 9,170,643 (GRCm38) |
|
probably null |
Het |
| Lct |
A |
T |
1: 128,298,693 (GRCm38) |
W1320R |
probably benign |
Het |
| Lrp2 |
T |
C |
2: 69,496,438 (GRCm38) |
D1763G |
possibly damaging |
Het |
| Lrrk2 |
A |
T |
15: 91,815,446 (GRCm38) |
N2499Y |
probably damaging |
Het |
| Lsg1 |
T |
C |
16: 30,581,185 (GRCm38) |
|
probably null |
Het |
| Mettl15 |
T |
C |
2: 109,137,378 (GRCm38) |
K188E |
probably damaging |
Het |
| Mfsd4b1 |
A |
G |
10: 40,003,278 (GRCm38) |
S208P |
probably damaging |
Het |
| Mlxipl |
T |
C |
5: 135,135,381 (GRCm38) |
S793P |
possibly damaging |
Het |
| Ms4a14 |
G |
A |
19: 11,302,786 (GRCm38) |
Q803* |
probably null |
Het |
| Mtor |
A |
C |
4: 148,538,738 (GRCm38) |
E2015A |
possibly damaging |
Het |
| Myo15b |
A |
T |
11: 115,887,923 (GRCm38) |
Y2581F |
unknown |
Het |
| Myo7b |
A |
T |
18: 32,014,204 (GRCm38) |
Y95* |
probably null |
Het |
| Nf1 |
A |
G |
11: 79,545,488 (GRCm38) |
I1985V |
probably benign |
Het |
| Noxred1 |
G |
A |
12: 87,221,362 (GRCm38) |
Q332* |
probably null |
Het |
| Nudt21 |
A |
T |
8: 94,022,833 (GRCm38) |
Y202N |
probably damaging |
Het |
| Odad2 |
A |
G |
18: 7,217,890 (GRCm38) |
L608P |
probably damaging |
Het |
| Or1j16 |
A |
T |
2: 36,640,620 (GRCm38) |
I194F |
probably benign |
Het |
| Pik3c2a |
A |
T |
7: 116,356,253 (GRCm38) |
S1176T |
probably damaging |
Het |
| Pramel14 |
A |
C |
4: 143,991,956 (GRCm38) |
S306A |
possibly damaging |
Het |
| Qrich2 |
GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG |
GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG |
11: 116,457,541 (GRCm38) |
|
probably benign |
Het |
| Rbmxl1 |
A |
G |
8: 78,505,623 (GRCm38) |
S364P |
unknown |
Het |
| Rnf24 |
T |
A |
2: 131,303,496 (GRCm38) |
K131N |
probably benign |
Het |
| Scai |
T |
A |
2: 39,123,022 (GRCm38) |
Q132L |
probably damaging |
Het |
| Sh3tc1 |
T |
C |
5: 35,723,953 (GRCm38) |
R49G |
probably benign |
Het |
| Slc12a7 |
A |
G |
13: 73,788,677 (GRCm38) |
E152G |
probably benign |
Het |
| Slc22a27 |
A |
T |
19: 7,896,762 (GRCm38) |
M316K |
probably damaging |
Het |
| Spag1 |
G |
T |
15: 36,210,710 (GRCm38) |
A427S |
probably benign |
Het |
| Speer4a3 |
AACT |
A |
5: 25,950,851 (GRCm38) |
|
probably benign |
Het |
| Sry |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
Y: 2,662,638 (GRCm38) |
|
probably benign |
Het |
| Stk16 |
G |
T |
1: 75,211,351 (GRCm38) |
C8F |
probably damaging |
Het |
| Syne2 |
T |
C |
12: 75,942,848 (GRCm38) |
C1834R |
probably damaging |
Het |
| Tie1 |
C |
T |
4: 118,478,857 (GRCm38) |
|
probably null |
Het |
| Timp2 |
A |
G |
11: 118,303,895 (GRCm38) |
I156T |
probably damaging |
Het |
| Tmem163 |
A |
G |
1: 127,491,610 (GRCm38) |
M286T |
possibly damaging |
Het |
| Tmx4 |
T |
A |
2: 134,639,668 (GRCm38) |
M112L |
probably benign |
Het |
| Trank1 |
G |
T |
9: 111,366,012 (GRCm38) |
E1035* |
probably null |
Het |
| Trim5 |
C |
T |
7: 104,279,564 (GRCm38) |
V57M |
probably damaging |
Het |
| Ubr3 |
A |
G |
2: 69,991,566 (GRCm38) |
S1391G |
probably benign |
Het |
| Vmn1r72 |
A |
T |
7: 11,669,707 (GRCm38) |
S271R |
probably damaging |
Het |
| Xpo5 |
G |
A |
17: 46,236,090 (GRCm38) |
|
probably null |
Het |
| Zfp592 |
A |
T |
7: 81,025,193 (GRCm38) |
H635L |
probably damaging |
Het |
| Zfp791 |
A |
T |
8: 85,112,215 (GRCm38) |
N62K |
probably benign |
Het |
| Zfp998 |
A |
G |
13: 66,433,677 (GRCm38) |
|
probably null |
Het |
| Zmynd11 |
G |
A |
13: 9,695,139 (GRCm38) |
T248M |
probably damaging |
Het |
|
| Other mutations in Kdm7a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00595:Kdm7a
|
APN |
6 |
39,144,510 (GRCm38) |
missense |
probably benign |
|
|
IGL00976:Kdm7a
|
APN |
6 |
39,144,398 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
IGL01063:Kdm7a
|
APN |
6 |
39,165,130 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL01325:Kdm7a
|
APN |
6 |
39,158,309 (GRCm38) |
splice site |
probably benign |
|
|
IGL01710:Kdm7a
|
APN |
6 |
39,175,386 (GRCm38) |
missense |
probably benign |
0.06 |
|
IGL01953:Kdm7a
|
APN |
6 |
39,146,902 (GRCm38) |
missense |
probably benign |
0.10 |
|
IGL02336:Kdm7a
|
APN |
6 |
39,170,264 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02721:Kdm7a
|
APN |
6 |
39,173,437 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
IGL02963:Kdm7a
|
APN |
6 |
39,143,230 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03165:Kdm7a
|
APN |
6 |
39,170,914 (GRCm38) |
splice site |
probably benign |
|
|
R0033:Kdm7a
|
UTSW |
6 |
39,165,197 (GRCm38) |
nonsense |
probably null |
|
|
R0831:Kdm7a
|
UTSW |
6 |
39,166,765 (GRCm38) |
splice site |
probably benign |
|
|
R0920:Kdm7a
|
UTSW |
6 |
39,151,322 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0962:Kdm7a
|
UTSW |
6 |
39,147,194 (GRCm38) |
missense |
probably benign |
0.05 |
|
R1403:Kdm7a
|
UTSW |
6 |
39,151,253 (GRCm38) |
splice site |
probably benign |
|
|
R1632:Kdm7a
|
UTSW |
6 |
39,152,898 (GRCm38) |
missense |
probably benign |
0.15 |
|
R1759:Kdm7a
|
UTSW |
6 |
39,147,699 (GRCm38) |
splice site |
probably null |
|
|
R2143:Kdm7a
|
UTSW |
6 |
39,168,950 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R2197:Kdm7a
|
UTSW |
6 |
39,146,936 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2496:Kdm7a
|
UTSW |
6 |
39,170,763 (GRCm38) |
splice site |
probably null |
|
|
R3844:Kdm7a
|
UTSW |
6 |
39,181,579 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4083:Kdm7a
|
UTSW |
6 |
39,152,814 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4184:Kdm7a
|
UTSW |
6 |
39,148,977 (GRCm38) |
missense |
probably benign |
|
|
R4193:Kdm7a
|
UTSW |
6 |
39,169,096 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4402:Kdm7a
|
UTSW |
6 |
39,166,668 (GRCm38) |
missense |
probably null |
1.00 |
|
R4544:Kdm7a
|
UTSW |
6 |
39,175,472 (GRCm38) |
missense |
probably benign |
0.08 |
|
R4546:Kdm7a
|
UTSW |
6 |
39,175,472 (GRCm38) |
missense |
probably benign |
0.08 |
|
R4560:Kdm7a
|
UTSW |
6 |
39,152,823 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R4561:Kdm7a
|
UTSW |
6 |
39,152,823 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R4562:Kdm7a
|
UTSW |
6 |
39,152,823 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R4563:Kdm7a
|
UTSW |
6 |
39,152,823 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R4737:Kdm7a
|
UTSW |
6 |
39,152,839 (GRCm38) |
missense |
possibly damaging |
0.57 |
|
R5061:Kdm7a
|
UTSW |
6 |
39,151,452 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R5247:Kdm7a
|
UTSW |
6 |
39,144,456 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5430:Kdm7a
|
UTSW |
6 |
39,149,342 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R6248:Kdm7a
|
UTSW |
6 |
39,147,049 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R6254:Kdm7a
|
UTSW |
6 |
39,170,269 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6346:Kdm7a
|
UTSW |
6 |
39,151,211 (GRCm38) |
splice site |
probably null |
|
|
R6420:Kdm7a
|
UTSW |
6 |
39,165,168 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6908:Kdm7a
|
UTSW |
6 |
39,144,439 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R6966:Kdm7a
|
UTSW |
6 |
39,152,839 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7048:Kdm7a
|
UTSW |
6 |
39,169,048 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7087:Kdm7a
|
UTSW |
6 |
39,175,381 (GRCm38) |
missense |
probably benign |
0.18 |
|
R7450:Kdm7a
|
UTSW |
6 |
39,143,251 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8172:Kdm7a
|
UTSW |
6 |
39,149,031 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8223:Kdm7a
|
UTSW |
6 |
39,149,301 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8337:Kdm7a
|
UTSW |
6 |
39,145,527 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8950:Kdm7a
|
UTSW |
6 |
39,146,969 (GRCm38) |
missense |
probably benign |
|
|
R8996:Kdm7a
|
UTSW |
6 |
39,152,852 (GRCm38) |
missense |
probably benign |
0.21 |
|
R9421:Kdm7a
|
UTSW |
6 |
39,152,829 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R9497:Kdm7a
|
UTSW |
6 |
39,151,319 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9506:Kdm7a
|
UTSW |
6 |
39,149,371 (GRCm38) |
missense |
probably benign |
0.08 |
|
R9523:Kdm7a
|
UTSW |
6 |
39,170,833 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9630:Kdm7a
|
UTSW |
6 |
39,173,305 (GRCm38) |
missense |
probably damaging |
0.96 |
|
RF012:Kdm7a
|
UTSW |
6 |
39,206,513 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGTCCCCACCTACTACAACTG -3'
(R):5'- GCTAATGCAGAGAAAGCTTTAAATACC -3'
Sequencing Primer
(F):5'- TGGAACTCACTCTGTAGACCAGG -3'
(R):5'- GGACTTAAGTAGAAGCCAGA -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation