Incidental Mutation 'R0546:Ift172'
| ID |
44816 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ift172
|
| Ensembl Gene |
ENSMUSG00000038564 |
| Gene Name |
intraflagellar transport 172 |
| Synonyms |
4930553F24Rik, wim, avc1 |
| MMRRC Submission |
038738-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0546 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
31410623-31448458 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 31414945 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 1359
(D1359G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049335
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041565]
[ENSMUST00000054829]
[ENSMUST00000201625]
[ENSMUST00000201937]
|
| AlphaFold |
Q6VH22 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041565
AA Change: D1359G
PolyPhen 2
Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000049335
Gene: ENSMUSG00000038564
AA Change: D1359G
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
2 |
44 |
6e-3 |
SMART |
|
WD40
|
55 |
94 |
2.22e0 |
SMART |
|
WD40
|
102 |
139 |
1.23e2 |
SMART |
|
WD40
|
141 |
180 |
4.6e0 |
SMART |
|
WD40
|
186 |
223 |
3.3e1 |
SMART |
|
WD40
|
225 |
267 |
4.42e1 |
SMART |
|
WD40
|
279 |
314 |
1.03e1 |
SMART |
|
Blast:WD40
|
516 |
550 |
5e-13 |
BLAST |
|
low complexity region
|
573 |
588 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
625 |
1026 |
1.7e-10 |
PROSPERO |
|
Blast:TPR
|
1029 |
1062 |
2e-13 |
BLAST |
|
low complexity region
|
1077 |
1091 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1101 |
1498 |
1.7e-10 |
PROSPERO |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054829
|
| SMART Domains |
Protein: ENSMUSP00000060414
Gene: ENSMUSG00000029149
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BCLP
|
19 |
211 |
8.6e-80 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201057
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201333
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201393
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201426
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201565
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201672
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201697
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202384
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201953
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202007
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202560
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201625
|
| SMART Domains |
Protein: ENSMUSP00000144052
Gene: ENSMUSG00000029149
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BCLP
|
19 |
206 |
1.8e-74 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201937
|
| SMART Domains |
Protein: ENSMUSP00000144464
Gene: ENSMUSG00000029149
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BCLP
|
19 |
206 |
1.8e-74 |
PFAM |
|
| Meta Mutation Damage Score |
0.3378 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 95.0%
|
| Validation Efficiency |
99% (74/75) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of the intraflagellar transport subcomplex IFT-B. Subcomplexes IFT-A and IFT-B are necessary for ciliary assembly and maintenance. Mutations in this gene have been associated with skeletal ciliopathies, with or without polydactyly, such as such short-rib thoracic dysplasias 1, 9 or 10. [provided by RefSeq, Mar 2014]
PHENOTYPE: Mice homozygous for disruptions in this gene display embryonic lethality during organogenesis, neural tube defects, and developmental patterning abnormalities. Mice homozygous for a conditional allele activated in the early limb bud exhibit polydactyly and short limbs. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
A |
G |
6: 23,077,076 (GRCm39) |
|
probably null |
Het |
| Actn1 |
C |
T |
12: 80,225,208 (GRCm39) |
R418Q |
probably benign |
Het |
| Adam39 |
G |
A |
8: 41,279,468 (GRCm39) |
V620M |
probably damaging |
Het |
| Agr3 |
C |
A |
12: 35,978,329 (GRCm39) |
T14K |
probably benign |
Het |
| Alpk2 |
T |
C |
18: 65,439,788 (GRCm39) |
D1002G |
probably benign |
Het |
| Amz2 |
T |
A |
11: 109,324,780 (GRCm39) |
N221K |
probably benign |
Het |
| Aox4 |
A |
G |
1: 58,289,333 (GRCm39) |
E752G |
probably damaging |
Het |
| Ap2a1 |
C |
T |
7: 44,554,132 (GRCm39) |
G500S |
probably damaging |
Het |
| Car5b |
G |
A |
X: 162,762,297 (GRCm39) |
R282C |
probably damaging |
Het |
| Ccdc112 |
A |
G |
18: 46,424,139 (GRCm39) |
S200P |
possibly damaging |
Het |
| Ccdc18 |
A |
T |
5: 108,322,830 (GRCm39) |
E643D |
probably benign |
Het |
| Ccdc180 |
A |
T |
4: 45,904,597 (GRCm39) |
T398S |
possibly damaging |
Het |
| Cnp |
A |
G |
11: 100,471,549 (GRCm39) |
Y397C |
probably damaging |
Het |
| Cpa4 |
T |
C |
6: 30,580,962 (GRCm39) |
W184R |
probably damaging |
Het |
| Crebbp |
A |
T |
16: 3,903,671 (GRCm39) |
I1856N |
probably damaging |
Het |
| Ctrl |
A |
G |
8: 106,658,966 (GRCm39) |
I200T |
probably damaging |
Het |
| Cyfip1 |
C |
T |
7: 55,572,564 (GRCm39) |
R934* |
probably null |
Het |
| Dennd5a |
A |
G |
7: 109,520,633 (GRCm39) |
V408A |
probably benign |
Het |
| Dhfr |
G |
A |
13: 92,504,692 (GRCm39) |
|
probably null |
Het |
| Dnajc6 |
A |
T |
4: 101,492,388 (GRCm39) |
N740Y |
probably damaging |
Het |
| Fam110a |
T |
C |
2: 151,812,732 (GRCm39) |
T13A |
probably benign |
Het |
| Fars2 |
G |
T |
13: 36,388,569 (GRCm39) |
K19N |
probably benign |
Het |
| Fer1l6 |
A |
T |
15: 58,430,257 (GRCm39) |
|
probably null |
Het |
| Gabra1 |
T |
A |
11: 42,053,428 (GRCm39) |
T69S |
probably damaging |
Het |
| Galnt18 |
T |
G |
7: 111,107,348 (GRCm39) |
N475T |
probably damaging |
Het |
| Gbp4 |
T |
C |
5: 105,268,836 (GRCm39) |
Y439C |
probably damaging |
Het |
| Gpatch2l |
A |
G |
12: 86,335,622 (GRCm39) |
*409W |
probably null |
Het |
| Hip1r |
T |
C |
5: 124,137,114 (GRCm39) |
V658A |
possibly damaging |
Het |
| Hspg2 |
A |
G |
4: 137,229,605 (GRCm39) |
D73G |
probably benign |
Het |
| Ifitm2 |
A |
G |
7: 140,535,656 (GRCm39) |
V58A |
possibly damaging |
Het |
| Ing1 |
A |
G |
8: 11,607,031 (GRCm39) |
D41G |
probably damaging |
Het |
| Itgal |
C |
T |
7: 126,909,486 (GRCm39) |
T446I |
probably benign |
Het |
| Itgav |
G |
T |
2: 83,633,586 (GRCm39) |
M978I |
probably benign |
Het |
| Jazf1 |
A |
G |
6: 52,754,681 (GRCm39) |
Y132H |
possibly damaging |
Het |
| Lgr4 |
T |
A |
2: 109,829,766 (GRCm39) |
N211K |
probably damaging |
Het |
| Mgat4d |
A |
G |
8: 84,082,350 (GRCm39) |
N100S |
possibly damaging |
Het |
| Mrgprb3 |
T |
C |
7: 48,293,263 (GRCm39) |
Y96C |
probably damaging |
Het |
| Myh11 |
A |
C |
16: 14,023,492 (GRCm39) |
L1562R |
probably damaging |
Het |
| Mylk |
G |
C |
16: 34,699,845 (GRCm39) |
E403Q |
possibly damaging |
Het |
| Myo15a |
A |
G |
11: 60,397,139 (GRCm39) |
Y2667C |
probably damaging |
Het |
| Or14j7 |
T |
A |
17: 38,235,229 (GRCm39) |
C257* |
probably null |
Het |
| Or52ae7 |
A |
G |
7: 103,119,907 (GRCm39) |
I220M |
possibly damaging |
Het |
| Or6c70 |
G |
A |
10: 129,710,407 (GRCm39) |
T73I |
possibly damaging |
Het |
| Or8k37 |
T |
A |
2: 86,469,573 (GRCm39) |
T160S |
possibly damaging |
Het |
| Or8k38 |
C |
T |
2: 86,488,235 (GRCm39) |
C189Y |
possibly damaging |
Het |
| Or9m2 |
T |
A |
2: 87,820,816 (GRCm39) |
Y120* |
probably null |
Het |
| Paox |
G |
T |
7: 139,711,591 (GRCm39) |
G148W |
probably damaging |
Het |
| Pkd1 |
T |
C |
17: 24,799,112 (GRCm39) |
V2777A |
probably benign |
Het |
| Plod2 |
T |
A |
9: 92,477,388 (GRCm39) |
V360E |
probably damaging |
Het |
| Prune2 |
T |
C |
19: 16,998,030 (GRCm39) |
|
probably benign |
Het |
| Sbds |
G |
T |
5: 130,282,919 (GRCm39) |
A3D |
possibly damaging |
Het |
| Sec23a |
T |
C |
12: 59,031,953 (GRCm39) |
T426A |
probably benign |
Het |
| Sec31a |
T |
C |
5: 100,551,929 (GRCm39) |
Y148C |
probably damaging |
Het |
| Shprh |
T |
A |
10: 11,059,631 (GRCm39) |
|
probably benign |
Het |
| Slc16a7 |
A |
G |
10: 125,066,742 (GRCm39) |
V299A |
probably benign |
Het |
| Smg8 |
T |
C |
11: 86,974,439 (GRCm39) |
Y174C |
possibly damaging |
Het |
| Snx22 |
T |
A |
9: 65,976,059 (GRCm39) |
Y58F |
probably damaging |
Het |
| Snx25 |
A |
G |
8: 46,556,667 (GRCm39) |
Y308H |
probably benign |
Het |
| St3gal2 |
A |
G |
8: 111,696,738 (GRCm39) |
|
probably null |
Het |
| Stab1 |
C |
T |
14: 30,861,507 (GRCm39) |
R2500H |
possibly damaging |
Het |
| Steap4 |
T |
C |
5: 8,025,870 (GRCm39) |
S144P |
probably damaging |
Het |
| Stfa3 |
T |
A |
16: 36,272,619 (GRCm39) |
|
probably benign |
Het |
| Tmprss9 |
C |
A |
10: 80,735,157 (GRCm39) |
Q1095K |
probably benign |
Het |
| Top2a |
A |
G |
11: 98,890,052 (GRCm39) |
V1217A |
possibly damaging |
Het |
| Trhr2 |
A |
G |
8: 123,085,228 (GRCm39) |
|
probably null |
Het |
| Trim7 |
A |
G |
11: 48,736,336 (GRCm39) |
E23G |
probably damaging |
Het |
| Trpv3 |
A |
T |
11: 73,188,013 (GRCm39) |
E788V |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,575,863 (GRCm39) |
I25010T |
probably damaging |
Het |
| Ube2ql1 |
T |
C |
13: 69,887,419 (GRCm39) |
H14R |
unknown |
Het |
| Uggt1 |
C |
T |
1: 36,235,052 (GRCm39) |
R419H |
probably benign |
Het |
| Xpo4 |
A |
G |
14: 57,850,731 (GRCm39) |
V391A |
probably benign |
Het |
| Zfhx3 |
A |
G |
8: 109,520,819 (GRCm39) |
D647G |
probably damaging |
Het |
| Zfp354c |
A |
T |
11: 50,706,457 (GRCm39) |
M206K |
probably benign |
Het |
| Zfp804a |
A |
G |
2: 82,089,264 (GRCm39) |
N1031S |
possibly damaging |
Het |
| Zfp868 |
A |
G |
8: 70,064,882 (GRCm39) |
V151A |
probably benign |
Het |
|
| Other mutations in Ift172 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00476:Ift172
|
APN |
5 |
31,433,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01399:Ift172
|
APN |
5 |
31,423,592 (GRCm39) |
missense |
probably benign |
|
|
IGL01405:Ift172
|
APN |
5 |
31,419,196 (GRCm39) |
nonsense |
probably null |
|
|
IGL01562:Ift172
|
APN |
5 |
31,424,591 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01758:Ift172
|
APN |
5 |
31,438,058 (GRCm39) |
missense |
probably benign |
|
|
IGL01792:Ift172
|
APN |
5 |
31,434,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01830:Ift172
|
APN |
5 |
31,442,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01839:Ift172
|
APN |
5 |
31,423,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02007:Ift172
|
APN |
5 |
31,443,948 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL02172:Ift172
|
APN |
5 |
31,438,681 (GRCm39) |
splice site |
probably benign |
|
|
IGL02190:Ift172
|
APN |
5 |
31,411,802 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
IGL02334:Ift172
|
APN |
5 |
31,440,402 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02486:Ift172
|
APN |
5 |
31,414,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02517:Ift172
|
APN |
5 |
31,410,992 (GRCm39) |
splice site |
probably null |
|
|
IGL02571:Ift172
|
APN |
5 |
31,415,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02626:Ift172
|
APN |
5 |
31,421,840 (GRCm39) |
missense |
probably benign |
|
|
IGL03183:Ift172
|
APN |
5 |
31,429,348 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL03277:Ift172
|
APN |
5 |
31,424,642 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL03349:Ift172
|
APN |
5 |
31,441,474 (GRCm39) |
missense |
probably benign |
0.05 |
|
ostinato
|
UTSW |
5 |
31,434,284 (GRCm39) |
missense |
probably benign |
0.10 |
|
pushback
|
UTSW |
5 |
31,444,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
P0042:Ift172
|
UTSW |
5 |
31,418,799 (GRCm39) |
missense |
probably benign |
0.35 |
|
PIT4802001:Ift172
|
UTSW |
5 |
31,442,610 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0153:Ift172
|
UTSW |
5 |
31,417,968 (GRCm39) |
missense |
probably benign |
|
|
R0328:Ift172
|
UTSW |
5 |
31,421,195 (GRCm39) |
nonsense |
probably null |
|
|
R0357:Ift172
|
UTSW |
5 |
31,415,244 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R0369:Ift172
|
UTSW |
5 |
31,410,985 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0391:Ift172
|
UTSW |
5 |
31,444,011 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0512:Ift172
|
UTSW |
5 |
31,442,821 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0553:Ift172
|
UTSW |
5 |
31,433,186 (GRCm39) |
splice site |
probably benign |
|
|
R0606:Ift172
|
UTSW |
5 |
31,411,657 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0834:Ift172
|
UTSW |
5 |
31,414,715 (GRCm39) |
missense |
probably benign |
|
|
R0973:Ift172
|
UTSW |
5 |
31,415,262 (GRCm39) |
unclassified |
probably benign |
|
|
R0973:Ift172
|
UTSW |
5 |
31,422,699 (GRCm39) |
missense |
probably benign |
|
|
R1189:Ift172
|
UTSW |
5 |
31,443,174 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1205:Ift172
|
UTSW |
5 |
31,443,136 (GRCm39) |
missense |
probably benign |
|
|
R1289:Ift172
|
UTSW |
5 |
31,438,320 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1342:Ift172
|
UTSW |
5 |
31,419,210 (GRCm39) |
missense |
probably benign |
|
|
R1395:Ift172
|
UTSW |
5 |
31,442,582 (GRCm39) |
unclassified |
probably benign |
|
|
R1417:Ift172
|
UTSW |
5 |
31,413,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2020:Ift172
|
UTSW |
5 |
31,424,585 (GRCm39) |
nonsense |
probably null |
|
|
R2111:Ift172
|
UTSW |
5 |
31,443,423 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2175:Ift172
|
UTSW |
5 |
31,424,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2509:Ift172
|
UTSW |
5 |
31,420,312 (GRCm39) |
missense |
probably benign |
|
|
R2870:Ift172
|
UTSW |
5 |
31,415,205 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2870:Ift172
|
UTSW |
5 |
31,415,205 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2871:Ift172
|
UTSW |
5 |
31,415,205 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2871:Ift172
|
UTSW |
5 |
31,415,205 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2872:Ift172
|
UTSW |
5 |
31,415,205 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2872:Ift172
|
UTSW |
5 |
31,415,205 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3705:Ift172
|
UTSW |
5 |
31,418,781 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3793:Ift172
|
UTSW |
5 |
31,414,925 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R4385:Ift172
|
UTSW |
5 |
31,444,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4477:Ift172
|
UTSW |
5 |
31,422,781 (GRCm39) |
missense |
probably benign |
0.38 |
|
R4590:Ift172
|
UTSW |
5 |
31,411,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4663:Ift172
|
UTSW |
5 |
31,441,559 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4665:Ift172
|
UTSW |
5 |
31,442,598 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4977:Ift172
|
UTSW |
5 |
31,429,460 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5109:Ift172
|
UTSW |
5 |
31,423,330 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5182:Ift172
|
UTSW |
5 |
31,424,958 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R5343:Ift172
|
UTSW |
5 |
31,421,156 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5465:Ift172
|
UTSW |
5 |
31,418,862 (GRCm39) |
splice site |
probably null |
|
|
R5622:Ift172
|
UTSW |
5 |
31,440,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5718:Ift172
|
UTSW |
5 |
31,412,621 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5793:Ift172
|
UTSW |
5 |
31,434,292 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R5870:Ift172
|
UTSW |
5 |
31,434,284 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5919:Ift172
|
UTSW |
5 |
31,418,006 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R5968:Ift172
|
UTSW |
5 |
31,418,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6112:Ift172
|
UTSW |
5 |
31,414,241 (GRCm39) |
missense |
probably benign |
|
|
R6339:Ift172
|
UTSW |
5 |
31,444,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6339:Ift172
|
UTSW |
5 |
31,413,927 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6355:Ift172
|
UTSW |
5 |
31,441,501 (GRCm39) |
missense |
probably benign |
0.33 |
|
R6565:Ift172
|
UTSW |
5 |
31,433,227 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6668:Ift172
|
UTSW |
5 |
31,412,683 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6755:Ift172
|
UTSW |
5 |
31,418,342 (GRCm39) |
nonsense |
probably null |
|
|
R6818:Ift172
|
UTSW |
5 |
31,423,304 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6939:Ift172
|
UTSW |
5 |
31,414,930 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6980:Ift172
|
UTSW |
5 |
31,414,730 (GRCm39) |
missense |
probably benign |
|
|
R7047:Ift172
|
UTSW |
5 |
31,433,238 (GRCm39) |
nonsense |
probably null |
|
|
R7156:Ift172
|
UTSW |
5 |
31,429,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7180:Ift172
|
UTSW |
5 |
31,411,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7288:Ift172
|
UTSW |
5 |
31,442,630 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7351:Ift172
|
UTSW |
5 |
31,433,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7706:Ift172
|
UTSW |
5 |
31,423,723 (GRCm39) |
nonsense |
probably null |
|
|
R7890:Ift172
|
UTSW |
5 |
31,440,425 (GRCm39) |
nonsense |
probably null |
|
|
R7980:Ift172
|
UTSW |
5 |
31,417,988 (GRCm39) |
missense |
probably benign |
|
|
R8263:Ift172
|
UTSW |
5 |
31,422,681 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R8559:Ift172
|
UTSW |
5 |
31,413,921 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8717:Ift172
|
UTSW |
5 |
31,412,985 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8774:Ift172
|
UTSW |
5 |
31,415,207 (GRCm39) |
missense |
probably benign |
0.45 |
|
R8774-TAIL:Ift172
|
UTSW |
5 |
31,415,207 (GRCm39) |
missense |
probably benign |
0.45 |
|
R9037:Ift172
|
UTSW |
5 |
31,420,400 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R9038:Ift172
|
UTSW |
5 |
31,441,399 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9133:Ift172
|
UTSW |
5 |
31,442,867 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9607:Ift172
|
UTSW |
5 |
31,410,913 (GRCm39) |
missense |
|
|
|
X0022:Ift172
|
UTSW |
5 |
31,442,664 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Z1176:Ift172
|
UTSW |
5 |
31,434,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAGCCTTACCGAATCCACTTTGC -3'
(R):5'- TGAACTGTCCATCAAGTTCCTGCC -3'
Sequencing Primer
(F):5'- GAGGAACTCCTTATAGTGCTGATCC -3'
(R):5'- TGCTGTAAGTAGGCCCTGAC -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation