Incidental Mutation 'IGL00469:Tm9sf4'
| ID |
14476 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tm9sf4
|
| Ensembl Gene |
ENSMUSG00000068040 |
| Gene Name |
transmembrane 9 superfamily member 4 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00469
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
153003223-153052386 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 153044275 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 509
(I509T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000086422
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089027]
|
| AlphaFold |
Q8BH24 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000089027
AA Change: I509T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000086422
Gene: ENSMUSG00000068040
AA Change: I509T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Pfam:EMP70
|
55 |
600 |
5.3e-203 |
PFAM |
|
transmembrane domain
|
605 |
627 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134922
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137446
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145010
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146477
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149390
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152807
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous mutants exhibit abnormal hair follicles and sebaceous glands, vertebrae and rib abnormalities, and increased circulating cholesterol, calcium, albumin, and total protein levels. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cacna2d4 |
A |
G |
6: 119,245,239 (GRCm39) |
I316V |
probably damaging |
Het |
| Ccdc9b |
T |
C |
2: 118,590,170 (GRCm39) |
S225G |
possibly damaging |
Het |
| Ccnb1ip1 |
G |
A |
14: 51,029,556 (GRCm39) |
R169C |
probably damaging |
Het |
| Crip1 |
G |
T |
12: 113,115,755 (GRCm39) |
D59Y |
probably damaging |
Het |
| Cstf2 |
T |
A |
X: 132,974,905 (GRCm39) |
H354Q |
probably damaging |
Het |
| Dcaf8l |
C |
A |
X: 88,449,944 (GRCm39) |
V62F |
possibly damaging |
Het |
| Dchs1 |
A |
T |
7: 105,404,468 (GRCm39) |
D2691E |
probably damaging |
Het |
| Dock2 |
T |
C |
11: 34,179,603 (GRCm39) |
|
probably benign |
Het |
| Fam199x |
T |
C |
X: 135,972,860 (GRCm39) |
I222T |
probably damaging |
Het |
| Flt1 |
A |
T |
5: 147,540,415 (GRCm39) |
L758Q |
probably damaging |
Het |
| Fxr2 |
T |
G |
11: 69,532,965 (GRCm39) |
L181R |
possibly damaging |
Het |
| Gpr158 |
G |
T |
2: 21,751,606 (GRCm39) |
|
probably benign |
Het |
| Hsd3b9 |
T |
A |
3: 98,363,716 (GRCm39) |
Q43L |
probably benign |
Het |
| Lancl2 |
T |
C |
6: 57,711,011 (GRCm39) |
W390R |
probably damaging |
Het |
| Pola1 |
C |
T |
X: 92,638,391 (GRCm39) |
V459I |
possibly damaging |
Het |
| Pola1 |
T |
C |
X: 92,604,991 (GRCm39) |
T981A |
probably damaging |
Het |
| Prss44 |
T |
C |
9: 110,644,557 (GRCm39) |
S222P |
probably benign |
Het |
| Sec16a |
T |
C |
2: 26,318,312 (GRCm39) |
N1593S |
probably damaging |
Het |
| Slco2b1 |
A |
G |
7: 99,309,318 (GRCm39) |
I671T |
probably benign |
Het |
| Trpc6 |
A |
G |
9: 8,626,702 (GRCm39) |
T351A |
probably benign |
Het |
| Utrn |
T |
C |
10: 12,282,273 (GRCm39) |
Q768R |
probably damaging |
Het |
| Zfp984 |
C |
T |
4: 147,839,343 (GRCm39) |
G503S |
probably benign |
Het |
|
| Other mutations in Tm9sf4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02218:Tm9sf4
|
APN |
2 |
153,046,536 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02354:Tm9sf4
|
APN |
2 |
153,029,570 (GRCm39) |
missense |
probably benign |
|
|
IGL02361:Tm9sf4
|
APN |
2 |
153,029,570 (GRCm39) |
missense |
probably benign |
|
|
IGL03047:Tm9sf4
|
UTSW |
2 |
153,003,326 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R0079:Tm9sf4
|
UTSW |
2 |
153,033,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0147:Tm9sf4
|
UTSW |
2 |
153,037,233 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0650:Tm9sf4
|
UTSW |
2 |
153,029,285 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0729:Tm9sf4
|
UTSW |
2 |
153,033,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0739:Tm9sf4
|
UTSW |
2 |
153,045,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1695:Tm9sf4
|
UTSW |
2 |
153,032,832 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2321:Tm9sf4
|
UTSW |
2 |
153,046,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3608:Tm9sf4
|
UTSW |
2 |
153,020,897 (GRCm39) |
missense |
probably benign |
|
|
R4031:Tm9sf4
|
UTSW |
2 |
153,040,264 (GRCm39) |
splice site |
probably benign |
|
|
R4668:Tm9sf4
|
UTSW |
2 |
153,029,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4669:Tm9sf4
|
UTSW |
2 |
153,029,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5318:Tm9sf4
|
UTSW |
2 |
153,029,576 (GRCm39) |
missense |
probably benign |
|
|
R5580:Tm9sf4
|
UTSW |
2 |
153,024,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5705:Tm9sf4
|
UTSW |
2 |
153,024,378 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5870:Tm9sf4
|
UTSW |
2 |
153,036,201 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5996:Tm9sf4
|
UTSW |
2 |
153,037,491 (GRCm39) |
splice site |
probably null |
|
|
R6115:Tm9sf4
|
UTSW |
2 |
153,024,409 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7448:Tm9sf4
|
UTSW |
2 |
153,036,267 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7740:Tm9sf4
|
UTSW |
2 |
153,050,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7848:Tm9sf4
|
UTSW |
2 |
153,044,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8426:Tm9sf4
|
UTSW |
2 |
153,045,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8726:Tm9sf4
|
UTSW |
2 |
153,040,295 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9577:Tm9sf4
|
UTSW |
2 |
153,037,294 (GRCm39) |
missense |
probably benign |
0.30 |
|
| Posted On |
2012-12-06 |
Incidental Mutation