Incidental Mutation 'R0739:Tm9sf4'
| ID |
70612 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tm9sf4
|
| Ensembl Gene |
ENSMUSG00000068040 |
| Gene Name |
transmembrane 9 superfamily member 4 |
| Synonyms |
|
| MMRRC Submission |
038920-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0739 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
153003223-153052386 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 153045734 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 535
(F535L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000086422
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089027]
|
| AlphaFold |
Q8BH24 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000089027
AA Change: F535L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000086422
Gene: ENSMUSG00000068040
AA Change: F535L
| 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
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 95.0%
|
| Validation Efficiency |
98% (48/49) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl6 |
A |
G |
11: 54,227,961 (GRCm39) |
E327G |
probably damaging |
Het |
| Adcy6 |
T |
C |
15: 98,496,260 (GRCm39) |
D593G |
probably benign |
Het |
| Ankmy1 |
T |
C |
1: 92,816,370 (GRCm39) |
D248G |
probably damaging |
Het |
| Atp2a1 |
T |
C |
7: 126,047,428 (GRCm39) |
I743V |
possibly damaging |
Het |
| Axdnd1 |
T |
C |
1: 156,208,456 (GRCm39) |
N396D |
possibly damaging |
Het |
| Cacna1e |
C |
T |
1: 154,318,024 (GRCm39) |
A1391T |
probably damaging |
Het |
| Ccr8 |
G |
A |
9: 119,923,415 (GRCm39) |
G177S |
probably damaging |
Het |
| Clmn |
C |
T |
12: 104,747,276 (GRCm39) |
G757D |
possibly damaging |
Het |
| Cntn2 |
T |
A |
1: 132,456,750 (GRCm39) |
I99F |
probably damaging |
Het |
| D6Ertd527e |
C |
G |
6: 87,088,650 (GRCm39) |
A271G |
unknown |
Het |
| Dnah1 |
A |
T |
14: 30,987,872 (GRCm39) |
C3515* |
probably null |
Het |
| Eif2d |
A |
G |
1: 131,082,100 (GRCm39) |
Y64C |
probably damaging |
Het |
| Elovl4 |
A |
G |
9: 83,667,162 (GRCm39) |
F65S |
probably damaging |
Het |
| F5 |
G |
C |
1: 164,026,486 (GRCm39) |
R1686P |
probably damaging |
Het |
| Fbn1 |
T |
C |
2: 125,209,550 (GRCm39) |
E938G |
probably benign |
Het |
| Foxn1 |
T |
C |
11: 78,249,825 (GRCm39) |
T567A |
probably benign |
Het |
| Gabrr1 |
T |
C |
4: 33,162,781 (GRCm39) |
M449T |
probably benign |
Het |
| Gdf2 |
C |
T |
14: 33,663,178 (GRCm39) |
P24L |
probably damaging |
Het |
| Itgb3bp |
T |
C |
4: 99,690,433 (GRCm39) |
I29V |
probably benign |
Het |
| Kcnk7 |
C |
T |
19: 5,754,830 (GRCm39) |
|
probably null |
Het |
| Klf11 |
T |
C |
12: 24,710,247 (GRCm39) |
S432P |
probably damaging |
Het |
| Neo1 |
C |
T |
9: 58,829,160 (GRCm39) |
A580T |
probably benign |
Het |
| Nexmif |
G |
T |
X: 103,128,555 (GRCm39) |
Q1121K |
probably benign |
Het |
| Or51aa5 |
T |
C |
7: 103,166,931 (GRCm39) |
Y220C |
probably damaging |
Het |
| Or51f5 |
T |
C |
7: 102,423,872 (GRCm39) |
I47T |
probably damaging |
Het |
| Or5p62 |
T |
C |
7: 107,771,217 (GRCm39) |
T245A |
probably benign |
Het |
| Osgepl1 |
G |
T |
1: 53,362,354 (GRCm39) |
E399* |
probably null |
Het |
| Parvg |
T |
A |
15: 84,215,222 (GRCm39) |
V197E |
probably damaging |
Het |
| Pcyt2 |
A |
G |
11: 120,502,870 (GRCm39) |
L257P |
probably damaging |
Het |
| Pou3f2 |
T |
C |
4: 22,486,960 (GRCm39) |
D391G |
possibly damaging |
Het |
| Psmd2 |
C |
T |
16: 20,474,079 (GRCm39) |
R261C |
probably benign |
Het |
| Ptpn13 |
T |
C |
5: 103,722,998 (GRCm39) |
F1981L |
probably benign |
Het |
| Rbp3 |
A |
T |
14: 33,680,604 (GRCm39) |
I1069F |
probably benign |
Het |
| Rhbdf2 |
A |
T |
11: 116,490,987 (GRCm39) |
L655Q |
probably damaging |
Het |
| Sec16a |
A |
T |
2: 26,331,063 (GRCm39) |
N317K |
possibly damaging |
Het |
| Serpina3f |
T |
C |
12: 104,184,612 (GRCm39) |
V252A |
probably damaging |
Het |
| Slc22a23 |
C |
T |
13: 34,528,366 (GRCm39) |
G139S |
possibly damaging |
Het |
| Smyd2 |
T |
C |
1: 189,621,059 (GRCm39) |
T220A |
possibly damaging |
Het |
| Snrpb2 |
T |
A |
2: 142,907,281 (GRCm39) |
|
probably benign |
Het |
| Spopfm1 |
A |
G |
3: 94,173,102 (GRCm39) |
M37V |
probably benign |
Het |
| Sptan1 |
A |
T |
2: 29,903,530 (GRCm39) |
I1502F |
probably damaging |
Het |
| Srprb |
A |
T |
9: 103,074,794 (GRCm39) |
L116H |
probably damaging |
Het |
| Stradb |
T |
A |
1: 59,016,174 (GRCm39) |
|
probably benign |
Het |
| Tmprss15 |
A |
T |
16: 78,821,736 (GRCm39) |
S440T |
possibly damaging |
Het |
| Tpr |
C |
T |
1: 150,283,248 (GRCm39) |
A293V |
possibly damaging |
Het |
| Usp34 |
C |
T |
11: 23,417,243 (GRCm39) |
T2964I |
possibly damaging |
Het |
| Usp35 |
C |
A |
7: 96,960,874 (GRCm39) |
E851* |
probably null |
Het |
| Zc3h14 |
T |
A |
12: 98,723,460 (GRCm39) |
V250D |
probably damaging |
Het |
| Zfp568 |
T |
A |
7: 29,722,746 (GRCm39) |
C564S |
probably damaging |
Het |
|
| Other mutations in Tm9sf4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00469:Tm9sf4
|
APN |
2 |
153,044,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGCACATGGTCTGGGGCAAGC -3'
(R):5'- GGGGAGCCAGGACAACAATCTACAC -3'
Sequencing Primer
(F):5'- CTGCCCTTAGTGGTAGCAGC -3'
(R):5'- GTCTGATACTGACAAGATCATGGC -3'
|
| Posted On |
2013-09-30 |
Incidental Mutation