Incidental Mutation 'R9038:Ift172'
ID |
687528 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ift172
|
Ensembl Gene |
ENSMUSG00000038564 |
Gene Name |
intraflagellar transport 172 |
Synonyms |
4930553F24Rik, wim, avc1 |
MMRRC Submission |
068866-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9038 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
31410623-31448458 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 31441399 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Lysine
at position 245
(T245K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000049335
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041565]
[ENSMUST00000201809]
|
AlphaFold |
Q6VH22 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041565
AA Change: T245K
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000049335 Gene: ENSMUSG00000038564 AA Change: T245K
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: 99.8%
- 10x: 98.9%
- 20x: 95.4%
|
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb5 |
A |
T |
12: 118,895,651 (GRCm39) |
C382S |
probably benign |
Het |
Abcf2 |
A |
G |
5: 24,776,191 (GRCm39) |
V296A |
possibly damaging |
Het |
Aco2 |
C |
G |
15: 81,756,620 (GRCm39) |
|
probably benign |
Het |
Acvrl1 |
A |
G |
15: 101,039,011 (GRCm39) |
D436G |
possibly damaging |
Het |
Adamts7 |
A |
G |
9: 90,056,692 (GRCm39) |
I254V |
|
Het |
Arhgef18 |
A |
G |
8: 3,503,257 (GRCm39) |
I888V |
probably benign |
Het |
Arhgef40 |
C |
A |
14: 52,235,072 (GRCm39) |
A1083D |
probably damaging |
Het |
Arnt2 |
C |
A |
7: 83,954,059 (GRCm39) |
A275S |
probably benign |
Het |
Brd10 |
A |
T |
19: 29,731,900 (GRCm39) |
Y371N |
possibly damaging |
Het |
Brip1 |
C |
T |
11: 86,080,599 (GRCm39) |
V156I |
probably benign |
Het |
Camk4 |
C |
A |
18: 33,291,953 (GRCm39) |
C204* |
probably null |
Het |
Cenpe |
A |
G |
3: 134,923,797 (GRCm39) |
T161A |
probably benign |
Het |
Chd2 |
G |
A |
7: 73,105,358 (GRCm39) |
H1256Y |
probably damaging |
Het |
Chd9 |
G |
A |
8: 91,716,233 (GRCm39) |
V936I |
unknown |
Het |
D6Ertd527e |
A |
G |
6: 87,089,233 (GRCm39) |
*465W |
probably null |
Het |
Dcaf11 |
T |
A |
14: 55,803,114 (GRCm39) |
D309E |
probably damaging |
Het |
Dtna |
A |
G |
18: 23,743,553 (GRCm39) |
N373S |
probably benign |
Het |
Eif2b2 |
A |
G |
12: 85,266,897 (GRCm39) |
D104G |
probably benign |
Het |
Fras1 |
A |
T |
5: 96,874,742 (GRCm39) |
T2302S |
probably benign |
Het |
Gga1 |
A |
G |
15: 78,768,321 (GRCm39) |
K114E |
probably damaging |
Het |
Gm12887 |
A |
G |
4: 121,473,616 (GRCm39) |
|
probably null |
Het |
Gss |
A |
T |
2: 155,406,794 (GRCm39) |
I396N |
|
Het |
H2-M5 |
T |
C |
17: 37,299,422 (GRCm39) |
I199M |
possibly damaging |
Het |
Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
Ift70a2 |
G |
A |
2: 75,808,215 (GRCm39) |
T99I |
probably benign |
Het |
Iqck |
A |
G |
7: 118,498,881 (GRCm39) |
D173G |
probably damaging |
Het |
Itga11 |
A |
G |
9: 62,675,039 (GRCm39) |
N857S |
possibly damaging |
Het |
Kdm1b |
C |
A |
13: 47,202,770 (GRCm39) |
S68R |
probably benign |
Het |
Ly6c1 |
C |
A |
15: 74,917,300 (GRCm39) |
G116V |
probably damaging |
Het |
Myo6 |
G |
T |
9: 80,162,285 (GRCm39) |
V341L |
unknown |
Het |
Nfkbie |
C |
A |
17: 45,870,183 (GRCm39) |
A176E |
probably damaging |
Het |
Nlrp2 |
C |
T |
7: 5,330,478 (GRCm39) |
M639I |
probably benign |
Het |
Or10g3 |
T |
A |
14: 52,609,716 (GRCm39) |
S265C |
probably damaging |
Het |
Or10j2 |
T |
A |
1: 173,098,147 (GRCm39) |
I135N |
possibly damaging |
Het |
Or56a41 |
T |
C |
7: 104,740,433 (GRCm39) |
I138V |
probably benign |
Het |
Or5w16 |
A |
G |
2: 87,577,125 (GRCm39) |
N195S |
probably damaging |
Het |
Or6c215 |
T |
C |
10: 129,637,564 (GRCm39) |
T277A |
probably damaging |
Het |
Or8k40 |
A |
T |
2: 86,584,354 (GRCm39) |
S243T |
probably damaging |
Het |
Pak4 |
G |
A |
7: 28,264,263 (GRCm39) |
T213M |
probably damaging |
Het |
Pan2 |
C |
T |
10: 128,153,810 (GRCm39) |
Q1003* |
probably null |
Het |
Pde4c |
G |
C |
8: 71,179,550 (GRCm39) |
V34L |
probably benign |
Het |
Pi4k2a |
G |
A |
19: 42,089,235 (GRCm39) |
V199M |
probably damaging |
Het |
Platr25 |
T |
C |
13: 62,848,007 (GRCm39) |
E285G |
probably damaging |
Het |
Polr3e |
T |
C |
7: 120,536,906 (GRCm39) |
V356A |
possibly damaging |
Het |
Prcp |
A |
G |
7: 92,567,017 (GRCm39) |
D243G |
probably benign |
Het |
Qsox2 |
T |
C |
2: 26,115,246 (GRCm39) |
T161A |
probably damaging |
Het |
Rhoj |
A |
G |
12: 75,355,700 (GRCm39) |
T35A |
|
Het |
Scn9a |
T |
A |
2: 66,325,147 (GRCm39) |
M1336L |
probably damaging |
Het |
Sel1l2 |
G |
T |
2: 140,117,384 (GRCm39) |
N162K |
probably damaging |
Het |
Slc15a3 |
T |
C |
19: 10,820,866 (GRCm39) |
L161P |
probably damaging |
Het |
Slc4a11 |
G |
A |
2: 130,533,663 (GRCm39) |
A100V |
probably damaging |
Het |
Sp1 |
A |
G |
15: 102,316,320 (GRCm39) |
S41G |
probably benign |
Het |
Tbx15 |
A |
G |
3: 99,222,085 (GRCm39) |
M183V |
probably benign |
Het |
Tfip11 |
A |
G |
5: 112,481,214 (GRCm39) |
T397A |
possibly damaging |
Het |
Themis |
T |
C |
10: 28,657,749 (GRCm39) |
S259P |
probably damaging |
Het |
Tm7sf2 |
T |
C |
19: 6,117,172 (GRCm39) |
Y77C |
probably damaging |
Het |
Tnnt2 |
C |
A |
1: 135,774,484 (GRCm39) |
P81H |
possibly damaging |
Het |
Trpc7 |
T |
C |
13: 57,035,886 (GRCm39) |
T16A |
probably benign |
Het |
Ttn |
T |
A |
2: 76,745,056 (GRCm39) |
Y5331F |
possibly damaging |
Het |
Virma |
A |
G |
4: 11,526,922 (GRCm39) |
Q1057R |
possibly damaging |
Het |
Vmn2r118 |
A |
T |
17: 55,918,649 (GRCm39) |
F81Y |
probably damaging |
Het |
Vmn2r88 |
T |
C |
14: 51,651,490 (GRCm39) |
V268A |
|
Het |
Vmn2r93 |
T |
A |
17: 18,524,471 (GRCm39) |
M155K |
probably benign |
Het |
Vps13b |
G |
T |
15: 35,875,931 (GRCm39) |
C2772F |
possibly damaging |
Het |
Wdr90 |
T |
C |
17: 26,076,200 (GRCm39) |
N86D |
|
Het |
Zbtb34 |
T |
C |
2: 33,301,248 (GRCm39) |
D431G |
probably damaging |
Het |
Zc3h3 |
G |
A |
15: 75,711,237 (GRCm39) |
P408L |
probably benign |
Het |
Zfp345 |
A |
G |
2: 150,313,864 (GRCm39) |
Y558H |
probably benign |
Het |
Zfp583 |
G |
A |
7: 6,319,543 (GRCm39) |
P490S |
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 |
R9037:Ift172
|
UTSW |
5 |
31,420,400 (GRCm39) |
missense |
possibly damaging |
0.56 |
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'- ATCCTGCACTTTGAAGCTGC -3'
(R):5'- AAAACTGAAATGTTGTGTCTCAGGG -3'
Sequencing Primer
(F):5'- ACTTTGAAGCTGCCAACGTG -3'
(R):5'- CTCAGGGAAAGTTGGTTAACCATCC -3'
|
Posted On |
2021-11-19 |