Incidental Mutation 'R6939:Ift172'
ID |
540417 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ift172
|
Ensembl Gene |
ENSMUSG00000038564 |
Gene Name |
intraflagellar transport 172 |
Synonyms |
4930553F24Rik, wim, avc1 |
MMRRC Submission |
045053-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6939 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
31410623-31448458 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 31414930 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 1364
(A1364V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000049335
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041565]
[ENSMUST00000054829]
[ENSMUST00000201625]
[ENSMUST00000201937]
|
AlphaFold |
Q6VH22 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000041565
AA Change: A1364V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000049335 Gene: ENSMUSG00000038564 AA Change: A1364V
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: 99.9%
- 10x: 99.3%
- 20x: 97.9%
|
Validation Efficiency |
99% (66/67) |
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 |
A1bg |
G |
A |
15: 60,792,244 (GRCm39) |
P128L |
probably damaging |
Het |
Acsm3 |
T |
C |
7: 119,377,678 (GRCm39) |
V401A |
probably damaging |
Het |
Arhgef11 |
C |
A |
3: 87,594,227 (GRCm39) |
N93K |
probably damaging |
Het |
C1ra |
G |
A |
6: 124,489,760 (GRCm39) |
|
probably null |
Het |
Camk2a |
A |
G |
18: 61,091,226 (GRCm39) |
E236G |
probably damaging |
Het |
Cav2 |
C |
A |
6: 17,281,410 (GRCm39) |
D17E |
possibly damaging |
Het |
Ccdc149 |
T |
C |
5: 52,533,607 (GRCm39) |
S520G |
probably benign |
Het |
Chd4 |
C |
A |
6: 125,083,501 (GRCm39) |
H674Q |
probably damaging |
Het |
Clrn2 |
A |
T |
5: 45,611,096 (GRCm39) |
|
probably benign |
Het |
Cntnap1 |
A |
C |
11: 101,077,337 (GRCm39) |
I1000L |
probably damaging |
Het |
Cyp2c67 |
T |
C |
19: 39,631,778 (GRCm39) |
T140A |
possibly damaging |
Het |
D7Ertd443e |
T |
C |
7: 133,966,208 (GRCm39) |
|
probably null |
Het |
Dcdc2c |
G |
T |
12: 28,591,496 (GRCm39) |
Q131K |
probably benign |
Het |
Dmpk |
T |
A |
7: 18,822,149 (GRCm39) |
V369E |
probably damaging |
Het |
Dnah11 |
A |
T |
12: 118,070,297 (GRCm39) |
W1503R |
probably damaging |
Het |
Dnai7 |
A |
G |
6: 145,120,945 (GRCm39) |
F625L |
possibly damaging |
Het |
Dok2 |
T |
C |
14: 71,013,045 (GRCm39) |
V71A |
probably benign |
Het |
Dqx1 |
A |
T |
6: 83,036,446 (GRCm39) |
Q150L |
probably damaging |
Het |
Extl3 |
A |
G |
14: 65,304,189 (GRCm39) |
I740T |
possibly damaging |
Het |
Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
Fat2 |
C |
T |
11: 55,143,300 (GRCm39) |
W4183* |
probably null |
Het |
Fkrp |
C |
T |
7: 16,545,751 (GRCm39) |
R37Q |
probably benign |
Het |
Frem3 |
A |
G |
8: 81,341,774 (GRCm39) |
K1356E |
probably benign |
Het |
Fus |
A |
T |
7: 127,571,741 (GRCm39) |
|
probably benign |
Het |
Gabarapl2 |
C |
A |
8: 112,669,201 (GRCm39) |
S53* |
probably null |
Het |
Gjd3 |
A |
C |
11: 102,691,733 (GRCm39) |
M90R |
probably damaging |
Het |
Gm30083 |
C |
T |
14: 33,725,557 (GRCm39) |
|
probably null |
Het |
Gm7356 |
T |
A |
17: 14,221,387 (GRCm39) |
Y214F |
probably benign |
Het |
Hexd |
A |
T |
11: 121,113,164 (GRCm39) |
D533V |
probably benign |
Het |
Ighmbp2 |
A |
T |
19: 3,326,907 (GRCm39) |
F186Y |
probably damaging |
Het |
Inpp5e |
C |
A |
2: 26,297,774 (GRCm39) |
|
probably null |
Het |
Iqcb1 |
A |
G |
16: 36,660,274 (GRCm39) |
T146A |
possibly damaging |
Het |
Kcnmb2 |
A |
G |
3: 32,252,465 (GRCm39) |
Y222C |
probably damaging |
Het |
Kdm6b |
A |
G |
11: 69,297,588 (GRCm39) |
W284R |
probably damaging |
Het |
Khdc4 |
T |
A |
3: 88,593,824 (GRCm39) |
M71K |
probably damaging |
Het |
Ksr2 |
T |
A |
5: 117,903,626 (GRCm39) |
*952R |
probably null |
Het |
Ldlrap1 |
C |
A |
4: 134,495,285 (GRCm39) |
|
probably benign |
Het |
Mpdu1 |
G |
A |
11: 69,548,881 (GRCm39) |
|
probably benign |
Het |
Mrgprh |
A |
T |
17: 13,095,822 (GRCm39) |
T21S |
probably benign |
Het |
Muc16 |
T |
A |
9: 18,549,833 (GRCm39) |
T5487S |
probably benign |
Het |
Mydgf |
A |
G |
17: 56,490,737 (GRCm39) |
|
probably null |
Het |
Napa |
T |
C |
7: 15,849,182 (GRCm39) |
C241R |
possibly damaging |
Het |
Or10ab4 |
C |
A |
7: 107,654,312 (GRCm39) |
A41E |
possibly damaging |
Het |
Or10n7-ps1 |
T |
C |
9: 39,598,187 (GRCm39) |
T18A |
possibly damaging |
Het |
Or5k17 |
A |
T |
16: 58,746,648 (GRCm39) |
Y95* |
probably null |
Het |
Pla2g4f |
A |
T |
2: 120,137,782 (GRCm39) |
L326Q |
probably damaging |
Het |
Pramel16 |
T |
C |
4: 143,675,366 (GRCm39) |
T487A |
probably benign |
Het |
Psme4 |
T |
A |
11: 30,787,291 (GRCm39) |
Y1029N |
probably damaging |
Het |
Ptprj |
T |
C |
2: 90,289,858 (GRCm39) |
T707A |
possibly damaging |
Het |
Raet1e |
T |
A |
10: 22,050,256 (GRCm39) |
M13K |
possibly damaging |
Het |
Rftn2 |
T |
C |
1: 55,233,508 (GRCm39) |
|
probably null |
Het |
Rmi1 |
A |
G |
13: 58,557,169 (GRCm39) |
I473V |
probably benign |
Het |
Rps6ka4 |
A |
G |
19: 6,815,437 (GRCm39) |
F186L |
probably damaging |
Het |
Ryr1 |
T |
A |
7: 28,751,751 (GRCm39) |
M3672L |
possibly damaging |
Het |
Smarca5 |
A |
T |
8: 81,431,949 (GRCm39) |
C890S |
possibly damaging |
Het |
Spata31d1e |
T |
A |
13: 59,889,872 (GRCm39) |
K231N |
possibly damaging |
Het |
Tdrd12 |
C |
T |
7: 35,185,024 (GRCm39) |
|
probably null |
Het |
Tecta |
T |
C |
9: 42,259,293 (GRCm39) |
N1530S |
probably damaging |
Het |
Tenm4 |
G |
A |
7: 96,202,703 (GRCm39) |
R106H |
probably benign |
Het |
Tmem94 |
A |
G |
11: 115,676,656 (GRCm39) |
S54G |
possibly damaging |
Het |
Tnk2 |
T |
C |
16: 32,482,696 (GRCm39) |
V41A |
probably damaging |
Het |
Trpm1 |
A |
G |
7: 63,918,045 (GRCm39) |
T462A |
probably benign |
Het |
Tsg101 |
T |
C |
7: 46,556,847 (GRCm39) |
T61A |
probably benign |
Het |
Usp42 |
T |
C |
5: 143,713,724 (GRCm39) |
N17D |
probably damaging |
Het |
Zfp607a |
T |
A |
7: 27,578,473 (GRCm39) |
C514* |
probably null |
Het |
Zfp866 |
G |
T |
8: 70,218,871 (GRCm39) |
Q250K |
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 |
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'- TAACTTCATGGTCTTGGGACG -3'
(R):5'- TGCTGTAAGTAGGCCCTGAC -3'
Sequencing Primer
(F):5'- ATGGTCTTGGGACGCCACAC -3'
(R):5'- TAAGTAGGCCCTGACCGGATC -3'
|
Posted On |
2018-11-06 |