Incidental Mutation 'R2885:Ift57'
| ID |
261031 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ift57
|
| Ensembl Gene |
ENSMUSG00000032965 |
| Gene Name |
intraflagellar transport 57 |
| Synonyms |
4833420A15Rik, Esrrbl1, HIPPI, MHS4R2 |
| MMRRC Submission |
040473-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2885 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
49519657-49585489 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 49584114 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 289
(V289A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117882
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046777]
[ENSMUST00000142682]
|
| AlphaFold |
Q8BXG3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046777
AA Change: V374A
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000046645
Gene: ENSMUSG00000032965
AA Change: V374A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
37 |
N/A |
INTRINSIC |
|
Pfam:IFT57
|
44 |
401 |
2.1e-154 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127115
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000140914
AA Change: V245A
|
| SMART Domains |
Protein: ENSMUSP00000116412
Gene: ENSMUSG00000032965
AA Change: V245A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
Pfam:IFT57
|
48 |
273 |
6.4e-84 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000142682
AA Change: V289A
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000117882
Gene: ENSMUSG00000032965
AA Change: V289A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IFT57
|
1 |
272 |
5.5e-111 |
PFAM |
|
| Meta Mutation Damage Score |
0.6325 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
100% (37/37) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null mutation display embryonic lethality during organogenesis, abnormal left-right axis patterning, absence of embryonic cilia. random and delayed embryo turning, and abnormal neural tube development and morphology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk3 |
A |
G |
7: 80,749,940 (GRCm39) |
S1453G |
probably damaging |
Het |
| Arhgap27 |
T |
C |
11: 103,251,669 (GRCm39) |
|
probably null |
Het |
| Casp1 |
A |
T |
9: 5,299,851 (GRCm39) |
H108L |
probably benign |
Het |
| Cerk |
A |
G |
15: 86,027,084 (GRCm39) |
F142S |
probably damaging |
Het |
| Cmip |
A |
G |
8: 118,111,704 (GRCm39) |
N145S |
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Cyp4b1 |
C |
T |
4: 115,492,849 (GRCm39) |
D287N |
probably damaging |
Het |
| Dlx2 |
G |
A |
2: 71,375,808 (GRCm39) |
R172* |
probably null |
Het |
| Dnah11 |
G |
A |
12: 117,951,162 (GRCm39) |
Q1145* |
probably null |
Het |
| Dock2 |
A |
T |
11: 34,580,593 (GRCm39) |
I659N |
probably damaging |
Het |
| Dync2h1 |
G |
C |
9: 7,102,329 (GRCm39) |
F2690L |
probably damaging |
Het |
| Fcrl5 |
A |
G |
3: 87,364,698 (GRCm39) |
Y566C |
probably damaging |
Het |
| Lrrc46 |
G |
A |
11: 96,925,806 (GRCm39) |
R219C |
probably damaging |
Het |
| Mapk1 |
A |
G |
16: 16,844,309 (GRCm39) |
N269S |
probably benign |
Het |
| Mrgprb1 |
A |
T |
7: 48,097,469 (GRCm39) |
Y148N |
probably damaging |
Het |
| Mzt2 |
G |
T |
16: 15,680,780 (GRCm39) |
A3E |
unknown |
Het |
| Naif1 |
C |
T |
2: 32,344,887 (GRCm39) |
P197L |
probably benign |
Het |
| Obscn |
A |
T |
11: 58,977,574 (GRCm39) |
V1959E |
probably damaging |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Phf12 |
T |
C |
11: 77,914,595 (GRCm39) |
I130T |
possibly damaging |
Het |
| Plekhg3 |
T |
C |
12: 76,611,735 (GRCm39) |
V338A |
probably benign |
Het |
| Prl3b1 |
A |
T |
13: 27,433,505 (GRCm39) |
N220I |
probably damaging |
Het |
| Rusc2 |
A |
G |
4: 43,415,456 (GRCm39) |
Q254R |
probably benign |
Het |
| Ryr1 |
G |
T |
7: 28,774,223 (GRCm39) |
R2404S |
probably damaging |
Het |
| Setdb1 |
A |
G |
3: 95,247,506 (GRCm39) |
I463T |
probably benign |
Het |
| Setx |
T |
G |
2: 29,038,637 (GRCm39) |
C1707W |
probably damaging |
Het |
| Siglec1 |
A |
G |
2: 130,914,667 (GRCm39) |
F1483S |
possibly damaging |
Het |
| Sis |
G |
A |
3: 72,816,506 (GRCm39) |
P1515S |
probably benign |
Het |
| Sit1 |
C |
T |
4: 43,483,314 (GRCm39) |
R50H |
possibly damaging |
Het |
| Smc6 |
T |
C |
12: 11,326,294 (GRCm39) |
V97A |
probably damaging |
Het |
| Ttc39d |
A |
G |
17: 80,524,144 (GRCm39) |
S268G |
probably benign |
Het |
| Ube2frt |
A |
G |
12: 36,140,574 (GRCm39) |
|
probably benign |
Het |
| Utrn |
A |
T |
10: 12,615,105 (GRCm39) |
|
probably null |
Het |
| Vmn2r60 |
T |
A |
7: 41,790,403 (GRCm39) |
D463E |
possibly damaging |
Het |
| Vmn2r91 |
A |
T |
17: 18,325,628 (GRCm39) |
Y82F |
probably benign |
Het |
| Zfp709 |
A |
T |
8: 72,643,549 (GRCm39) |
D325V |
probably benign |
Het |
| Znrf3 |
A |
T |
11: 5,239,693 (GRCm39) |
D58E |
probably damaging |
Het |
|
| Other mutations in Ift57 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02476:Ift57
|
APN |
16 |
49,584,252 (GRCm39) |
missense |
probably benign |
0.39 |
|
R0636:Ift57
|
UTSW |
16 |
49,532,259 (GRCm39) |
missense |
probably benign |
0.27 |
|
R1552:Ift57
|
UTSW |
16 |
49,579,716 (GRCm39) |
missense |
probably benign |
0.09 |
|
R2172:Ift57
|
UTSW |
16 |
49,579,703 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4657:Ift57
|
UTSW |
16 |
49,582,957 (GRCm39) |
splice site |
probably null |
|
|
R4761:Ift57
|
UTSW |
16 |
49,522,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5726:Ift57
|
UTSW |
16 |
49,519,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5958:Ift57
|
UTSW |
16 |
49,531,471 (GRCm39) |
intron |
probably benign |
|
|
R6013:Ift57
|
UTSW |
16 |
49,519,667 (GRCm39) |
splice site |
probably null |
|
|
R6189:Ift57
|
UTSW |
16 |
49,584,176 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6390:Ift57
|
UTSW |
16 |
49,582,836 (GRCm39) |
splice site |
probably null |
|
|
R6749:Ift57
|
UTSW |
16 |
49,581,347 (GRCm39) |
missense |
probably benign |
0.23 |
|
R6862:Ift57
|
UTSW |
16 |
49,584,167 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R7073:Ift57
|
UTSW |
16 |
49,584,230 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7379:Ift57
|
UTSW |
16 |
49,581,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7556:Ift57
|
UTSW |
16 |
49,526,491 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8479:Ift57
|
UTSW |
16 |
49,522,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9011:Ift57
|
UTSW |
16 |
49,579,777 (GRCm39) |
missense |
probably benign |
0.34 |
|
R9313:Ift57
|
UTSW |
16 |
49,557,085 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9392:Ift57
|
UTSW |
16 |
49,584,174 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTACATCAAACATTGAACCAGTTCC -3'
(R):5'- ATAATCAGAAGCATGGAAGCCC -3'
Sequencing Primer
(F):5'- ACTCTCAGGTGTTTAAAATACCACCG -3'
(R):5'- GCCCACGTGTTTAATAGAAGC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation