Incidental Mutation 'R8774-TAIL:Ift172'
ID |
667961 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ift172
|
Ensembl Gene |
ENSMUSG00000038564 |
Gene Name |
intraflagellar transport 172 |
Synonyms |
4930553F24Rik, wim, avc1 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8774-TAIL
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
31410623-31448458 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 31415207 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 1334
(V1334A)
|
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: V1334A
PolyPhen 2
Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000049335 Gene: ENSMUSG00000038564 AA Change: V1334A
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 |
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
Validation Efficiency |
|
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 |
Abca1 |
A |
G |
4: 53,090,358 (GRCm39) |
S364P |
possibly damaging |
Het |
Abcc2 |
T |
A |
19: 43,787,577 (GRCm39) |
Y208N |
probably damaging |
Het |
Acy1 |
A |
T |
9: 106,313,913 (GRCm39) |
D82E |
probably damaging |
Het |
Ankub1 |
A |
G |
3: 57,597,802 (GRCm39) |
L56P |
probably damaging |
Het |
Aoc1 |
T |
A |
6: 48,885,529 (GRCm39) |
F678Y |
probably damaging |
Het |
Asxl3 |
C |
A |
18: 22,657,101 (GRCm39) |
Q1704K |
probably damaging |
Het |
Atg9b |
T |
C |
5: 24,595,571 (GRCm39) |
D236G |
probably damaging |
Het |
Auh |
A |
T |
13: 52,993,631 (GRCm39) |
M261K |
probably benign |
Het |
Blm |
TCC |
TCCGCC |
7: 80,162,655 (GRCm39) |
|
probably benign |
Het |
Blm |
TCC |
TCCGCC |
7: 80,162,667 (GRCm39) |
|
probably benign |
Het |
Blm |
CTC |
CTCATC |
7: 80,162,666 (GRCm39) |
|
probably benign |
Het |
C2cd6 |
A |
T |
1: 59,099,825 (GRCm39) |
M372K |
possibly damaging |
Het |
Ccdc88b |
A |
T |
19: 6,825,090 (GRCm39) |
N1287K |
probably damaging |
Het |
Cebpz |
A |
G |
17: 79,229,073 (GRCm39) |
S958P |
probably benign |
Het |
Cgn |
T |
A |
3: 94,680,810 (GRCm39) |
Q576L |
probably damaging |
Het |
Chd7 |
T |
A |
4: 8,854,692 (GRCm39) |
M2011K |
probably damaging |
Het |
Cntnap4 |
A |
G |
8: 113,529,820 (GRCm39) |
E676G |
probably benign |
Het |
Cspp1 |
A |
T |
1: 10,183,139 (GRCm39) |
E781D |
possibly damaging |
Het |
Cyb5d2 |
A |
C |
11: 72,679,901 (GRCm39) |
|
probably null |
Het |
Epn3 |
G |
T |
11: 94,383,220 (GRCm39) |
P335T |
possibly damaging |
Het |
Far2 |
T |
A |
6: 148,047,629 (GRCm39) |
S103T |
probably benign |
Het |
Fhip1a |
G |
C |
3: 85,580,097 (GRCm39) |
Q703E |
probably benign |
Het |
Fhl2 |
A |
G |
1: 43,162,751 (GRCm39) |
S255P |
probably damaging |
Het |
Fmnl2 |
T |
A |
2: 52,932,321 (GRCm39) |
V100D |
|
Het |
Gabbr1 |
T |
C |
17: 37,382,749 (GRCm39) |
L814P |
probably damaging |
Het |
Gzmg |
C |
T |
14: 56,394,193 (GRCm39) |
V234I |
probably benign |
Het |
Itga8 |
C |
G |
2: 12,187,495 (GRCm39) |
G728A |
probably damaging |
Het |
Klrg1 |
T |
C |
6: 122,255,193 (GRCm39) |
T80A |
probably benign |
Het |
Lrp4 |
A |
G |
2: 91,308,043 (GRCm39) |
N496S |
probably benign |
Het |
Lsmem1 |
G |
T |
12: 40,227,145 (GRCm39) |
N113K |
probably damaging |
Het |
Map3k2 |
G |
A |
18: 32,345,117 (GRCm39) |
S314N |
probably damaging |
Het |
Mtpap |
C |
T |
18: 4,387,032 (GRCm39) |
R361* |
probably null |
Het |
Muc5b |
T |
A |
7: 141,418,831 (GRCm39) |
S3926T |
probably benign |
Het |
Nat10 |
C |
A |
2: 103,561,752 (GRCm39) |
R643L |
probably damaging |
Het |
Ncbp3 |
T |
C |
11: 72,938,808 (GRCm39) |
V28A |
probably benign |
Het |
Nlrp9a |
T |
C |
7: 26,257,984 (GRCm39) |
L534P |
possibly damaging |
Het |
Nmi |
T |
C |
2: 51,848,974 (GRCm39) |
K39E |
probably benign |
Het |
Nxpe4 |
A |
G |
9: 48,304,692 (GRCm39) |
N260D |
probably benign |
Het |
Or4k38 |
T |
C |
2: 111,166,318 (GRCm39) |
Y35C |
probably damaging |
Het |
Or51aa2 |
C |
A |
7: 103,187,965 (GRCm39) |
V159L |
probably benign |
Het |
Or6c213 |
T |
A |
10: 129,573,926 (GRCm39) |
I287F |
probably damaging |
Het |
Or8c19-ps1 |
G |
A |
9: 38,220,600 (GRCm39) |
A170T |
unknown |
Het |
Pirb |
G |
T |
7: 3,720,728 (GRCm39) |
L257M |
probably damaging |
Het |
Plcg2 |
A |
T |
8: 118,306,585 (GRCm39) |
D313V |
possibly damaging |
Het |
Ppard |
G |
A |
17: 28,517,864 (GRCm39) |
V311I |
possibly damaging |
Het |
Ptcd1 |
A |
T |
5: 145,092,175 (GRCm39) |
M308K |
probably damaging |
Het |
Pygo1 |
A |
G |
9: 72,852,436 (GRCm39) |
N208D |
possibly damaging |
Het |
Robo1 |
T |
G |
16: 72,832,719 (GRCm39) |
D1497E |
probably benign |
Het |
Sdk2 |
T |
C |
11: 113,730,169 (GRCm39) |
D1022G |
probably damaging |
Het |
Shc3 |
G |
A |
13: 51,615,475 (GRCm39) |
H161Y |
probably damaging |
Het |
Slc15a1 |
G |
T |
14: 121,724,423 (GRCm39) |
Q150K |
probably damaging |
Het |
Sod1 |
T |
G |
16: 90,023,039 (GRCm39) |
V120G |
probably damaging |
Het |
Spata31g1 |
T |
C |
4: 42,971,087 (GRCm39) |
L140P |
probably damaging |
Het |
Sprr2f |
T |
A |
3: 92,273,323 (GRCm39) |
C41S |
unknown |
Het |
Svil |
A |
T |
18: 5,049,068 (GRCm39) |
Y115F |
probably damaging |
Het |
Tdp1 |
T |
C |
12: 99,877,917 (GRCm39) |
S400P |
probably damaging |
Het |
Thbs4 |
A |
T |
13: 92,898,030 (GRCm39) |
D596E |
probably damaging |
Het |
Tshz1 |
T |
A |
18: 84,033,101 (GRCm39) |
M436L |
possibly damaging |
Het |
Ube3c |
C |
T |
5: 29,812,029 (GRCm39) |
T423I |
probably benign |
Het |
Unc93a |
A |
T |
17: 13,341,837 (GRCm39) |
I98N |
probably damaging |
Het |
Usp33 |
T |
A |
3: 152,085,213 (GRCm39) |
Y624* |
probably null |
Het |
Vmn1r217 |
T |
A |
13: 23,298,108 (GRCm39) |
M265L |
probably benign |
Het |
Vmn1r222 |
A |
T |
13: 23,416,418 (GRCm39) |
M265K |
probably benign |
Het |
Vmn2r16 |
C |
T |
5: 109,488,231 (GRCm39) |
T368M |
probably benign |
Het |
Zfp867 |
A |
G |
11: 59,354,837 (GRCm39) |
F164S |
probably damaging |
Het |
Zswim1 |
C |
T |
2: 164,668,062 (GRCm39) |
T438I |
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 |
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 |
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 |
|
Posted On |
2021-03-08 |