Incidental Mutation 'R5299:Ift81'
| ID |
456010 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ift81
|
| Ensembl Gene |
ENSMUSG00000029469 |
| Gene Name |
intraflagellar transport 81 |
| Synonyms |
Cdv1, CDV-1R |
| MMRRC Submission |
042882-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5299 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
122688267-122752581 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 122745119 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 144
(Y144C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031426
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031426]
[ENSMUST00000127220]
[ENSMUST00000136024]
[ENSMUST00000196452]
|
| AlphaFold |
O35594 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031426
AA Change: Y144C
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000031426
Gene: ENSMUSG00000029469
AA Change: Y144C
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4LVP|A
|
5 |
128 |
2e-23 |
PDB |
|
coiled coil region
|
167 |
258 |
N/A |
INTRINSIC |
|
coiled coil region
|
308 |
383 |
N/A |
INTRINSIC |
|
coiled coil region
|
503 |
591 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127220
AA Change: Y144C
PolyPhen 2
Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000116467
Gene: ENSMUSG00000029469
AA Change: Y144C
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4LVR|A
|
1 |
122 |
1e-25 |
PDB |
|
coiled coil region
|
167 |
208 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136024
|
| SMART Domains |
Protein: ENSMUSP00000118614
Gene: ENSMUSG00000029469
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4LVP|A
|
5 |
50 |
4e-7 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139590
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144065
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196452
|
| SMART Domains |
Protein: ENSMUSP00000143512
Gene: ENSMUSG00000029469
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4LVP|A
|
1 |
48 |
4e-7 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196544
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene, together with IFT74, forms a tubulin-binding module of intraflagellar transport complex B. This module is involved in transport of tubulin within the cilium, and the encoded protein is required for ciliogenesis. Mutations in this gene are a cause of short-rib polydactyly syndromes. [provided by RefSeq, Dec 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,381,861 (GRCm39) |
I3838V |
probably damaging |
Het |
| Arid1a |
A |
T |
4: 133,414,537 (GRCm39) |
D1231E |
unknown |
Het |
| Atxn1 |
A |
T |
13: 45,710,730 (GRCm39) |
I734K |
probably benign |
Het |
| Axin1 |
A |
G |
17: 26,392,708 (GRCm39) |
S330G |
probably damaging |
Het |
| Bend3 |
G |
A |
10: 43,369,686 (GRCm39) |
|
probably null |
Het |
| Chodl |
C |
T |
16: 78,738,296 (GRCm39) |
T88I |
probably damaging |
Het |
| Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
| Dst |
A |
G |
1: 34,174,173 (GRCm39) |
I179M |
probably damaging |
Het |
| Ehmt2 |
C |
T |
17: 35,118,067 (GRCm39) |
R40* |
probably null |
Het |
| Exoc2 |
A |
T |
13: 31,055,901 (GRCm39) |
|
probably null |
Het |
| Grk2 |
T |
C |
19: 4,342,799 (GRCm39) |
E45G |
probably damaging |
Het |
| Ighv1-15 |
T |
C |
12: 114,620,998 (GRCm39) |
D109G |
probably damaging |
Het |
| Igtp |
T |
C |
11: 58,097,959 (GRCm39) |
W377R |
possibly damaging |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Map2k6 |
A |
G |
11: 110,383,789 (GRCm39) |
D145G |
probably benign |
Het |
| Mcph1 |
T |
C |
8: 18,702,596 (GRCm39) |
|
probably benign |
Het |
| Mdfi |
A |
G |
17: 48,131,759 (GRCm39) |
V95A |
possibly damaging |
Het |
| Mical3 |
A |
G |
6: 120,936,473 (GRCm39) |
L1351P |
possibly damaging |
Het |
| Nbas |
C |
T |
12: 13,491,926 (GRCm39) |
Q1506* |
probably null |
Het |
| Nelfb |
A |
G |
2: 25,100,757 (GRCm39) |
V128A |
probably benign |
Het |
| Otog |
A |
G |
7: 45,938,275 (GRCm39) |
T1995A |
probably benign |
Het |
| Ppp1r7 |
A |
T |
1: 93,280,348 (GRCm39) |
I139L |
probably benign |
Het |
| Ppp2r1b |
A |
G |
9: 50,768,340 (GRCm39) |
D19G |
probably benign |
Het |
| Proca1 |
T |
C |
11: 78,096,078 (GRCm39) |
S150P |
probably damaging |
Het |
| Rhof |
A |
G |
5: 123,258,611 (GRCm39) |
V100A |
probably damaging |
Het |
| Rsbn1 |
G |
C |
3: 103,821,806 (GRCm39) |
G14R |
probably benign |
Het |
| Serinc1 |
A |
G |
10: 57,399,147 (GRCm39) |
I252T |
probably damaging |
Het |
| Skint4 |
A |
T |
4: 111,993,203 (GRCm39) |
I309F |
possibly damaging |
Het |
| Slc12a3 |
A |
G |
8: 95,078,417 (GRCm39) |
Y815C |
probably damaging |
Het |
| Slc25a24 |
A |
G |
3: 109,073,668 (GRCm39) |
S424G |
probably benign |
Het |
| Spint2 |
G |
A |
7: 28,963,151 (GRCm39) |
A49V |
probably damaging |
Het |
| Traf3ip3 |
T |
A |
1: 192,860,483 (GRCm39) |
K480* |
probably null |
Het |
| Ube2g2 |
T |
C |
10: 77,480,379 (GRCm39) |
S162P |
possibly damaging |
Het |
| Ubxn8 |
C |
A |
8: 34,131,947 (GRCm39) |
V7L |
possibly damaging |
Het |
| Vmn1r200 |
T |
A |
13: 22,579,945 (GRCm39) |
C249* |
probably null |
Het |
| Vmn1r38 |
T |
A |
6: 66,753,682 (GRCm39) |
T145S |
probably benign |
Het |
| Wapl |
G |
A |
14: 34,455,765 (GRCm39) |
|
probably null |
Het |
| Wfdc6a |
T |
C |
2: 164,422,311 (GRCm39) |
N96S |
possibly damaging |
Het |
| Zfp503 |
A |
G |
14: 22,035,507 (GRCm39) |
S470P |
probably benign |
Het |
|
| Other mutations in Ift81 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01321:Ift81
|
APN |
5 |
122,749,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01867:Ift81
|
APN |
5 |
122,740,739 (GRCm39) |
splice site |
probably benign |
|
|
IGL01927:Ift81
|
APN |
5 |
122,731,192 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL02954:Ift81
|
APN |
5 |
122,748,248 (GRCm39) |
splice site |
probably benign |
|
|
IGL03003:Ift81
|
APN |
5 |
122,732,725 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1179:Ift81
|
UTSW |
5 |
122,740,773 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1394:Ift81
|
UTSW |
5 |
122,706,986 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1395:Ift81
|
UTSW |
5 |
122,706,986 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1962:Ift81
|
UTSW |
5 |
122,698,772 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2084:Ift81
|
UTSW |
5 |
122,705,410 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4019:Ift81
|
UTSW |
5 |
122,731,192 (GRCm39) |
missense |
probably benign |
0.25 |
|
R4769:Ift81
|
UTSW |
5 |
122,732,656 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4849:Ift81
|
UTSW |
5 |
122,729,282 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4905:Ift81
|
UTSW |
5 |
122,729,142 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4924:Ift81
|
UTSW |
5 |
122,732,679 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5110:Ift81
|
UTSW |
5 |
122,689,121 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5387:Ift81
|
UTSW |
5 |
122,693,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6190:Ift81
|
UTSW |
5 |
122,689,163 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6241:Ift81
|
UTSW |
5 |
122,740,414 (GRCm39) |
missense |
probably benign |
0.38 |
|
R6404:Ift81
|
UTSW |
5 |
122,749,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6647:Ift81
|
UTSW |
5 |
122,748,229 (GRCm39) |
nonsense |
probably null |
|
|
R7155:Ift81
|
UTSW |
5 |
122,707,062 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7170:Ift81
|
UTSW |
5 |
122,693,596 (GRCm39) |
nonsense |
probably null |
|
|
R7699:Ift81
|
UTSW |
5 |
122,732,623 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7700:Ift81
|
UTSW |
5 |
122,732,623 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7709:Ift81
|
UTSW |
5 |
122,747,394 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7756:Ift81
|
UTSW |
5 |
122,689,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7758:Ift81
|
UTSW |
5 |
122,689,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9154:Ift81
|
UTSW |
5 |
122,689,122 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9329:Ift81
|
UTSW |
5 |
122,697,833 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9761:Ift81
|
UTSW |
5 |
122,729,146 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCAGTCATTCACCTAGTTTCCATAC -3'
(R):5'- TCTAGTGTGCAAGAATGTGAGG -3'
Sequencing Primer
(F):5'- TCACCTAGTTTCCATACAGTTAAAAC -3'
(R):5'- TGAATTCACACTCGAGATCCTG -3'
|
| Posted On |
2017-02-14 |
Incidental Mutation