Incidental Mutation 'R9133:Ift172'
ID |
693763 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ift172
|
Ensembl Gene |
ENSMUSG00000038564 |
Gene Name |
intraflagellar transport 172 |
Synonyms |
4930553F24Rik, wim, avc1 |
MMRRC Submission |
068930-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9133 (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 31442867 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 140
(T140A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000049335
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041565]
[ENSMUST00000201809]
|
AlphaFold |
Q6VH22 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000041565
AA Change: T140A
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000049335 Gene: ENSMUSG00000038564 AA Change: T140A
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: ENSMUST00000201809
|
SMART Domains |
Protein: ENSMUSP00000144425 Gene: ENSMUSG00000038564
Domain | Start | End | E-Value | Type |
WD40
|
2 |
44 |
3.8e-5 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000202589
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
100% (65/65) |
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 |
Acat3 |
T |
A |
17: 13,159,176 (GRCm39) |
R4S |
probably benign |
Het |
Adamdec1 |
A |
T |
14: 68,814,547 (GRCm39) |
C143* |
probably null |
Het |
Adck5 |
A |
G |
15: 76,460,612 (GRCm39) |
|
probably benign |
Het |
Aebp2 |
A |
G |
6: 140,579,441 (GRCm39) |
D226G |
probably damaging |
Het |
Ascc3 |
A |
G |
10: 50,630,175 (GRCm39) |
I1755V |
possibly damaging |
Het |
Aspm |
C |
T |
1: 139,419,266 (GRCm39) |
T2977M |
probably damaging |
Het |
Cacna1a |
A |
G |
8: 85,276,152 (GRCm39) |
S582G |
probably damaging |
Het |
Card14 |
T |
C |
11: 119,231,835 (GRCm39) |
F801S |
probably damaging |
Het |
Casp16 |
T |
A |
17: 23,771,003 (GRCm39) |
D134V |
probably damaging |
Het |
Cmya5 |
A |
G |
13: 93,234,108 (GRCm39) |
S327P |
possibly damaging |
Het |
Cutc |
A |
T |
19: 43,755,727 (GRCm39) |
D229V |
possibly damaging |
Het |
Cyp21a1 |
C |
A |
17: 35,023,419 (GRCm39) |
|
probably benign |
Het |
Dnah10 |
A |
G |
5: 124,859,423 (GRCm39) |
K2130R |
probably damaging |
Het |
Dsc1 |
C |
T |
18: 20,234,904 (GRCm39) |
S250N |
probably benign |
Het |
Edc4 |
T |
C |
8: 106,611,778 (GRCm39) |
|
probably null |
Het |
Efcab8 |
G |
C |
2: 153,646,861 (GRCm39) |
V397L |
unknown |
Het |
Ehmt1 |
A |
T |
2: 24,729,635 (GRCm39) |
I642K |
possibly damaging |
Het |
Gjd2 |
T |
C |
2: 113,842,039 (GRCm39) |
Q146R |
probably benign |
Het |
Gm26661 |
A |
G |
14: 7,791,936 (GRCm38) |
H117R |
unknown |
Het |
H2-Oa |
T |
A |
17: 34,313,505 (GRCm39) |
D185E |
probably damaging |
Het |
Hjurp |
A |
T |
1: 88,202,772 (GRCm39) |
Y71N |
possibly damaging |
Het |
Hyal6 |
A |
G |
6: 24,734,585 (GRCm39) |
R173G |
possibly damaging |
Het |
Ica1 |
A |
T |
6: 8,659,921 (GRCm39) |
V125D |
probably benign |
Het |
Ighv9-4 |
T |
A |
12: 114,263,883 (GRCm39) |
I17F |
probably benign |
Het |
Igkv4-92 |
G |
T |
6: 68,732,248 (GRCm39) |
T42N |
probably damaging |
Het |
Kctd16 |
C |
A |
18: 40,392,069 (GRCm39) |
P219Q |
probably damaging |
Het |
Kdm5b |
A |
T |
1: 134,530,323 (GRCm39) |
I445F |
probably benign |
Het |
Ksr2 |
A |
G |
5: 117,841,319 (GRCm39) |
T598A |
probably benign |
Het |
Lrrn1 |
C |
T |
6: 107,544,568 (GRCm39) |
T122I |
probably damaging |
Het |
Mars2 |
A |
G |
1: 55,276,721 (GRCm39) |
D108G |
possibly damaging |
Het |
Ms4a14 |
A |
G |
19: 11,281,038 (GRCm39) |
W507R |
|
Het |
Ncoa3 |
A |
G |
2: 165,910,381 (GRCm39) |
T1266A |
possibly damaging |
Het |
Neb |
T |
C |
2: 52,083,256 (GRCm39) |
K5650E |
possibly damaging |
Het |
Nlrp4f |
T |
A |
13: 65,332,883 (GRCm39) |
K92* |
probably null |
Het |
Nme4 |
G |
T |
17: 26,314,389 (GRCm39) |
A13E |
probably benign |
Het |
Nova1 |
G |
T |
12: 46,865,524 (GRCm39) |
A4E |
unknown |
Het |
Nphs1 |
G |
T |
7: 30,160,092 (GRCm39) |
E124* |
probably null |
Het |
Or10d4 |
T |
A |
9: 39,580,974 (GRCm39) |
I207N |
possibly damaging |
Het |
Or10d4b |
T |
A |
9: 39,534,809 (GRCm39) |
L128* |
probably null |
Het |
Or5d14 |
T |
C |
2: 87,880,782 (GRCm39) |
Y62C |
probably damaging |
Het |
Pde8a |
C |
T |
7: 80,982,619 (GRCm39) |
T746I |
probably damaging |
Het |
Peg3 |
GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC |
GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC |
7: 6,712,167 (GRCm39) |
|
probably benign |
Het |
Ranbp2 |
T |
C |
10: 58,313,050 (GRCm39) |
S1257P |
probably damaging |
Het |
Ranbp3 |
T |
C |
17: 57,003,791 (GRCm39) |
|
probably null |
Het |
Rasgrf1 |
A |
G |
9: 89,793,600 (GRCm39) |
T126A |
probably benign |
Het |
Rexo5 |
T |
G |
7: 119,444,667 (GRCm39) |
L714R |
probably damaging |
Het |
Rhobtb3 |
A |
G |
13: 76,020,512 (GRCm39) |
Y597H |
probably damaging |
Het |
Riox1 |
C |
G |
12: 83,998,221 (GRCm39) |
Y252* |
probably null |
Het |
Sh2d3c |
T |
C |
2: 32,634,778 (GRCm39) |
Y186H |
possibly damaging |
Het |
Slc16a7 |
T |
A |
10: 125,066,536 (GRCm39) |
T368S |
probably benign |
Het |
Slc25a26 |
G |
A |
6: 94,511,143 (GRCm39) |
V107I |
|
Het |
Slc4a5 |
A |
T |
6: 83,203,217 (GRCm39) |
Y39F |
possibly damaging |
Het |
Smarcad1 |
A |
G |
6: 65,049,035 (GRCm39) |
K254E |
probably damaging |
Het |
Sspo |
G |
T |
6: 48,434,747 (GRCm39) |
V1080L |
possibly damaging |
Het |
Thsd7b |
A |
T |
1: 129,843,382 (GRCm39) |
T865S |
probably benign |
Het |
Top1 |
C |
T |
2: 160,545,591 (GRCm39) |
Q320* |
probably null |
Het |
Trank1 |
T |
A |
9: 111,220,770 (GRCm39) |
N2502K |
possibly damaging |
Het |
Urad |
T |
C |
5: 147,252,251 (GRCm39) |
H67R |
probably damaging |
Het |
Vamp5 |
A |
C |
6: 72,357,362 (GRCm39) |
|
probably null |
Het |
Vmn1r62 |
A |
G |
7: 5,679,062 (GRCm39) |
I248V |
probably benign |
Het |
Wwc2 |
G |
T |
8: 48,305,007 (GRCm39) |
Q873K |
unknown |
Het |
Zcchc2 |
C |
A |
1: 105,958,535 (GRCm39) |
S1002Y |
probably damaging |
Het |
Zdhhc14 |
G |
A |
17: 5,803,283 (GRCm39) |
R462H |
probably benign |
Het |
Zfp788 |
A |
G |
7: 41,299,484 (GRCm39) |
N707D |
|
Het |
Zfp964 |
A |
G |
8: 70,115,783 (GRCm39) |
T128A |
probably benign |
Het |
Zkscan16 |
T |
C |
4: 58,957,722 (GRCm39) |
L668S |
possibly 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 |
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 |
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'- AAGTACCTGACGATGGTGC -3'
(R):5'- GCAGCAGGGTTCCTTCTTTC -3'
Sequencing Primer
(F):5'- AGAGGATCCCCTTCCCAGAG -3'
(R):5'- TTTCCCCTGGAGCCCGAG -3'
|
Posted On |
2022-01-20 |