Incidental Mutation 'R9037:Ift172'
ID |
687459 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ift172
|
Ensembl Gene |
ENSMUSG00000038564 |
Gene Name |
intraflagellar transport 172 |
Synonyms |
4930553F24Rik, wim, avc1 |
MMRRC Submission |
068969-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9037 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
31410623-31448458 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 31420400 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 1079
(K1079E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000049335
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041565]
|
AlphaFold |
Q6VH22 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041565
AA Change: K1079E
PolyPhen 2
Score 0.561 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000049335 Gene: ENSMUSG00000038564 AA Change: K1079E
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: ENSMUST00000202585
|
SMART Domains |
Protein: ENSMUSP00000144216 Gene: ENSMUSG00000038564
Domain | Start | End | E-Value | Type |
Blast:WD40
|
46 |
78 |
2e-11 |
BLAST |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
Validation Efficiency |
100% (66/66) |
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ablim3 |
T |
A |
18: 61,952,066 (GRCm39) |
I432F |
probably benign |
Het |
Aco2 |
C |
G |
15: 81,756,620 (GRCm39) |
|
probably benign |
Het |
Adcy1 |
A |
G |
11: 7,087,325 (GRCm39) |
T400A |
possibly damaging |
Het |
Afap1l2 |
A |
T |
19: 56,918,403 (GRCm39) |
|
probably benign |
Het |
Anapc4 |
C |
A |
5: 53,021,843 (GRCm39) |
Q642K |
probably benign |
Het |
Ano8 |
A |
G |
8: 71,937,088 (GRCm39) |
F160S |
probably damaging |
Het |
Apob |
T |
C |
12: 8,066,501 (GRCm39) |
V4490A |
probably benign |
Het |
Bcar1 |
A |
C |
8: 112,447,522 (GRCm39) |
F152V |
probably benign |
Het |
Cacna2d2 |
A |
G |
9: 107,386,395 (GRCm39) |
D174G |
probably benign |
Het |
Capn11 |
T |
C |
17: 45,950,357 (GRCm39) |
K328R |
probably benign |
Het |
Colq |
C |
A |
14: 31,279,744 (GRCm39) |
|
probably benign |
Het |
Coro1a |
A |
C |
7: 126,299,772 (GRCm39) |
M350R |
probably benign |
Het |
Ctbp1 |
T |
A |
5: 33,424,352 (GRCm39) |
M24L |
probably benign |
Het |
Cyp2c55 |
T |
A |
19: 39,030,537 (GRCm39) |
F456L |
probably damaging |
Het |
Dnah5 |
A |
T |
15: 28,248,104 (GRCm39) |
K747M |
probably benign |
Het |
Efcab3 |
A |
G |
11: 104,803,791 (GRCm39) |
D3048G |
unknown |
Het |
Esp36 |
C |
T |
17: 38,729,840 (GRCm39) |
G60D |
unknown |
Het |
Gast |
A |
G |
11: 100,227,436 (GRCm39) |
E43G |
probably damaging |
Het |
Gm5849 |
T |
G |
3: 90,685,155 (GRCm39) |
N10T |
probably benign |
Het |
Gulp1 |
T |
C |
1: 44,793,524 (GRCm39) |
S62P |
probably benign |
Het |
Hectd1 |
T |
C |
12: 51,832,665 (GRCm39) |
D903G |
possibly damaging |
Het |
Hk2 |
T |
A |
6: 82,720,339 (GRCm39) |
I201F |
probably benign |
Het |
Ifna2 |
T |
C |
4: 88,601,664 (GRCm39) |
D118G |
probably benign |
Het |
Igsf9 |
T |
C |
1: 172,312,081 (GRCm39) |
V9A |
probably benign |
Het |
Ints2 |
G |
A |
11: 86,106,530 (GRCm39) |
T960I |
probably benign |
Het |
Klk12 |
T |
C |
7: 43,419,139 (GRCm39) |
W35R |
probably damaging |
Het |
Ly6c1 |
C |
A |
15: 74,917,300 (GRCm39) |
G116V |
probably damaging |
Het |
Macf1 |
T |
C |
4: 123,365,518 (GRCm39) |
N3081S |
probably benign |
Het |
Mal2 |
A |
G |
15: 54,434,939 (GRCm39) |
N12S |
unknown |
Het |
Mgat1 |
T |
G |
11: 49,152,256 (GRCm39) |
N246K |
probably damaging |
Het |
Mpeg1 |
T |
A |
19: 12,439,190 (GRCm39) |
V216E |
probably damaging |
Het |
Mpo |
A |
G |
11: 87,688,557 (GRCm39) |
|
probably benign |
Het |
Mtmr9 |
T |
A |
14: 63,761,532 (GRCm39) |
T541S |
possibly damaging |
Het |
Or4a73 |
C |
T |
2: 89,421,051 (GRCm39) |
R136Q |
probably benign |
Het |
Or51b6b |
T |
A |
7: 103,310,382 (GRCm39) |
H25L |
probably benign |
Het |
Or5ak25 |
T |
C |
2: 85,269,139 (GRCm39) |
D121G |
possibly damaging |
Het |
Or8k3 |
G |
T |
2: 86,059,042 (GRCm39) |
T91K |
probably benign |
Het |
P2rx6 |
A |
G |
16: 17,388,307 (GRCm39) |
T328A |
possibly damaging |
Het |
Pcdhb12 |
A |
C |
18: 37,569,229 (GRCm39) |
E125A |
probably benign |
Het |
Pde3a |
C |
A |
6: 141,416,832 (GRCm39) |
Q569K |
probably damaging |
Het |
Pepd |
A |
T |
7: 34,720,398 (GRCm39) |
Q227L |
probably benign |
Het |
Piezo2 |
T |
A |
18: 63,225,902 (GRCm39) |
E911D |
probably benign |
Het |
Pnpla6 |
A |
T |
8: 3,592,379 (GRCm39) |
R1241* |
probably null |
Het |
Pold1 |
T |
C |
7: 44,188,339 (GRCm39) |
D513G |
probably damaging |
Het |
Polr1d |
A |
T |
5: 147,015,490 (GRCm39) |
I58L |
probably benign |
Het |
Ppif |
T |
C |
14: 25,694,828 (GRCm39) |
L58P |
probably damaging |
Het |
Preb |
T |
C |
5: 31,116,590 (GRCm39) |
K101R |
probably benign |
Het |
Psma8 |
G |
T |
18: 14,854,251 (GRCm39) |
V44L |
probably benign |
Het |
Ptf1a |
A |
G |
2: 19,451,036 (GRCm39) |
Y122C |
possibly damaging |
Het |
Ranbp6 |
T |
C |
19: 29,790,317 (GRCm39) |
T12A |
probably benign |
Het |
Rasal3 |
C |
A |
17: 32,614,094 (GRCm39) |
R587L |
probably benign |
Het |
Rnf146 |
T |
C |
10: 29,223,676 (GRCm39) |
K70R |
probably benign |
Het |
Serpinb6b |
G |
T |
13: 33,161,998 (GRCm39) |
E266* |
probably null |
Het |
Slc15a2 |
A |
T |
16: 36,582,725 (GRCm39) |
M252K |
probably benign |
Het |
Slc2a1 |
T |
C |
4: 118,993,494 (GRCm39) |
F444L |
probably damaging |
Het |
Sox9 |
A |
G |
11: 112,675,650 (GRCm39) |
S280G |
probably damaging |
Het |
Spata31e4 |
A |
G |
13: 50,856,944 (GRCm39) |
K861E |
probably benign |
Het |
Trappc8 |
A |
G |
18: 20,961,539 (GRCm39) |
V1243A |
probably benign |
Het |
Trpv2 |
A |
T |
11: 62,475,231 (GRCm39) |
T215S |
probably damaging |
Het |
Ttc39a |
A |
G |
4: 109,299,981 (GRCm39) |
E490G |
probably damaging |
Het |
Ush2a |
A |
T |
1: 187,995,487 (GRCm39) |
D86V |
possibly damaging |
Het |
Usp24 |
A |
G |
4: 106,236,251 (GRCm39) |
T980A |
probably damaging |
Het |
Vwa7 |
T |
C |
17: 35,236,268 (GRCm39) |
V74A |
probably benign |
Het |
Zan |
A |
G |
5: 137,452,578 (GRCm39) |
V1501A |
unknown |
Het |
Zfp105 |
A |
G |
9: 122,758,836 (GRCm39) |
E169G |
possibly damaging |
Het |
Zfp788 |
C |
T |
7: 41,298,315 (GRCm39) |
T317I |
probably damaging |
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 |
R0546:Ift172
|
UTSW |
5 |
31,414,945 (GRCm39) |
missense |
probably benign |
0.14 |
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 |
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'- ACTTTTGCCTCAGCTTTTGGAG -3'
(R):5'- GGATTTTCTGAACGCCATCC -3'
Sequencing Primer
(F):5'- CTCTGTATATAGGATGCTCTGGGAG -3'
(R):5'- CTCTGTCCTTAAACACTGACCTAAG -3'
|
Posted On |
2021-11-19 |