Incidental Mutation 'R1345:Tmem232'
ID |
156485 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmem232
|
Ensembl Gene |
ENSMUSG00000045036 |
Gene Name |
transmembrane protein 232 |
Synonyms |
LOC381107, E130009J12Rik |
MMRRC Submission |
039410-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.075)
|
Stock # |
R1345 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
65562994-65847777 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 65757401 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 264
(N264S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000083927
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062161]
[ENSMUST00000086722]
|
AlphaFold |
Q5K6N0 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000062161
AA Change: N264S
PolyPhen 2
Score 0.597 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000055652 Gene: ENSMUSG00000045036 AA Change: N264S
Domain | Start | End | E-Value | Type |
Pfam:TMEM232
|
40 |
488 |
5.3e-235 |
PFAM |
coiled coil region
|
598 |
634 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000086722
AA Change: N264S
PolyPhen 2
Score 0.597 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000083927 Gene: ENSMUSG00000045036 AA Change: N264S
Domain | Start | End | E-Value | Type |
low complexity region
|
61 |
67 |
N/A |
INTRINSIC |
coiled coil region
|
598 |
634 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.3172 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 92.3%
|
Validation Efficiency |
100% (45/45) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700001K19Rik |
C |
T |
12: 110,635,152 (GRCm39) |
V129I |
probably damaging |
Het |
Akr1c18 |
T |
C |
13: 4,195,213 (GRCm39) |
T82A |
possibly damaging |
Het |
Alx1 |
A |
G |
10: 102,864,353 (GRCm39) |
S39P |
possibly damaging |
Het |
Atr |
A |
G |
9: 95,802,408 (GRCm39) |
T1767A |
probably benign |
Het |
Brf1 |
A |
T |
12: 112,924,728 (GRCm39) |
|
probably null |
Het |
Cd86 |
A |
G |
16: 36,438,686 (GRCm39) |
|
probably null |
Het |
Cdan1 |
A |
G |
2: 120,549,620 (GRCm39) |
|
probably null |
Het |
Cntln |
A |
G |
4: 84,892,228 (GRCm39) |
D371G |
probably damaging |
Het |
Cypt4 |
A |
G |
9: 24,536,515 (GRCm39) |
T2A |
possibly damaging |
Het |
Dll1 |
G |
T |
17: 15,593,817 (GRCm39) |
Y183* |
probably null |
Het |
Dnmt1 |
G |
T |
9: 20,819,814 (GRCm39) |
P1444Q |
probably damaging |
Het |
Ern2 |
A |
G |
7: 121,776,993 (GRCm39) |
L309P |
probably damaging |
Het |
Fam151a |
A |
G |
4: 106,599,491 (GRCm39) |
K142E |
probably damaging |
Het |
Fbn1 |
T |
C |
2: 125,156,591 (GRCm39) |
E2378G |
probably damaging |
Het |
Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
Kdm5b |
A |
C |
1: 134,558,288 (GRCm39) |
T1432P |
possibly damaging |
Het |
Kif2a |
G |
A |
13: 107,130,423 (GRCm39) |
S15F |
probably damaging |
Het |
Lzic |
A |
G |
4: 149,571,308 (GRCm39) |
E31G |
probably damaging |
Het |
Mmp16 |
A |
G |
4: 18,112,021 (GRCm39) |
M466V |
probably benign |
Het |
Mtm1 |
T |
C |
X: 70,330,837 (GRCm39) |
V203A |
probably benign |
Het |
Muc21 |
T |
A |
17: 35,932,489 (GRCm39) |
|
probably benign |
Het |
Neurl4 |
A |
G |
11: 69,794,702 (GRCm39) |
M249V |
probably benign |
Het |
Or6c76b |
T |
C |
10: 129,692,759 (GRCm39) |
I124T |
probably damaging |
Het |
Plxna2 |
T |
C |
1: 194,326,794 (GRCm39) |
Y243H |
probably damaging |
Het |
Rbm44 |
A |
G |
1: 91,080,481 (GRCm39) |
N223S |
probably damaging |
Het |
Sel1l3 |
G |
T |
5: 53,357,559 (GRCm39) |
H144Q |
possibly damaging |
Het |
Simc1 |
A |
ANNNNNNNNNNNNNNNNNNNNN |
13: 54,673,060 (GRCm39) |
|
probably benign |
Het |
Snrpb2 |
A |
G |
2: 142,907,086 (GRCm39) |
|
probably benign |
Het |
Spata31d1d |
T |
G |
13: 59,873,838 (GRCm39) |
K1232N |
possibly damaging |
Het |
Spink5 |
A |
T |
18: 44,123,749 (GRCm39) |
E345D |
possibly damaging |
Het |
Sucla2 |
C |
T |
14: 73,798,074 (GRCm39) |
|
probably benign |
Het |
Tarbp1 |
T |
C |
8: 127,175,069 (GRCm39) |
D789G |
probably benign |
Het |
Tedc2 |
T |
A |
17: 24,435,291 (GRCm39) |
E366V |
probably damaging |
Het |
Tedc2 |
C |
A |
17: 24,435,292 (GRCm39) |
E366* |
probably null |
Het |
Trim43b |
G |
C |
9: 88,967,725 (GRCm39) |
L303V |
possibly damaging |
Het |
Tulp2 |
C |
A |
7: 45,168,145 (GRCm39) |
R298S |
probably benign |
Het |
Usp42 |
A |
G |
5: 143,703,088 (GRCm39) |
V511A |
probably damaging |
Het |
Vav1 |
A |
T |
17: 57,608,214 (GRCm39) |
T321S |
probably benign |
Het |
Vmn1r169 |
A |
C |
7: 23,277,247 (GRCm39) |
H213P |
probably damaging |
Het |
Vmn1r170 |
C |
T |
7: 23,305,787 (GRCm39) |
T63I |
probably benign |
Het |
Vmn2r103 |
T |
G |
17: 20,014,509 (GRCm39) |
W434G |
probably damaging |
Het |
Zfp407 |
C |
T |
18: 84,577,898 (GRCm39) |
A1072T |
probably benign |
Het |
Zfp7 |
T |
C |
15: 76,774,908 (GRCm39) |
S317P |
probably damaging |
Het |
|
Other mutations in Tmem232 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00897:Tmem232
|
APN |
17 |
65,563,569 (GRCm39) |
missense |
possibly damaging |
0.71 |
IGL00954:Tmem232
|
APN |
17 |
65,807,148 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01530:Tmem232
|
APN |
17 |
65,563,543 (GRCm39) |
nonsense |
probably null |
|
IGL02881:Tmem232
|
APN |
17 |
65,757,365 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02969:Tmem232
|
APN |
17 |
65,563,558 (GRCm39) |
missense |
possibly damaging |
0.69 |
IGL02972:Tmem232
|
APN |
17 |
65,783,668 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03028:Tmem232
|
APN |
17 |
65,563,384 (GRCm39) |
missense |
probably benign |
0.14 |
IGL03293:Tmem232
|
APN |
17 |
65,757,369 (GRCm39) |
missense |
probably damaging |
1.00 |
R0380:Tmem232
|
UTSW |
17 |
65,563,443 (GRCm39) |
missense |
probably benign |
0.23 |
R0432:Tmem232
|
UTSW |
17 |
65,563,498 (GRCm39) |
missense |
probably damaging |
0.99 |
R0524:Tmem232
|
UTSW |
17 |
65,792,937 (GRCm39) |
missense |
probably damaging |
0.98 |
R0548:Tmem232
|
UTSW |
17 |
65,689,615 (GRCm39) |
missense |
probably benign |
0.22 |
R1521:Tmem232
|
UTSW |
17 |
65,791,496 (GRCm39) |
missense |
probably damaging |
0.99 |
R1954:Tmem232
|
UTSW |
17 |
65,791,482 (GRCm39) |
missense |
probably benign |
0.01 |
R1955:Tmem232
|
UTSW |
17 |
65,791,482 (GRCm39) |
missense |
probably benign |
0.01 |
R2012:Tmem232
|
UTSW |
17 |
65,807,167 (GRCm39) |
missense |
probably benign |
0.21 |
R2294:Tmem232
|
UTSW |
17 |
65,757,436 (GRCm39) |
missense |
probably benign |
0.00 |
R2369:Tmem232
|
UTSW |
17 |
65,709,992 (GRCm39) |
missense |
probably damaging |
1.00 |
R2384:Tmem232
|
UTSW |
17 |
65,709,852 (GRCm39) |
missense |
probably damaging |
1.00 |
R2894:Tmem232
|
UTSW |
17 |
65,757,408 (GRCm39) |
missense |
probably damaging |
1.00 |
R3431:Tmem232
|
UTSW |
17 |
65,572,297 (GRCm39) |
splice site |
probably null |
|
R3788:Tmem232
|
UTSW |
17 |
65,689,628 (GRCm39) |
missense |
possibly damaging |
0.71 |
R3789:Tmem232
|
UTSW |
17 |
65,689,520 (GRCm39) |
missense |
probably benign |
0.02 |
R3789:Tmem232
|
UTSW |
17 |
65,689,628 (GRCm39) |
missense |
possibly damaging |
0.71 |
R4155:Tmem232
|
UTSW |
17 |
65,743,328 (GRCm39) |
missense |
probably damaging |
0.97 |
R4691:Tmem232
|
UTSW |
17 |
65,572,237 (GRCm39) |
missense |
possibly damaging |
0.88 |
R4838:Tmem232
|
UTSW |
17 |
65,737,883 (GRCm39) |
missense |
probably benign |
0.04 |
R5340:Tmem232
|
UTSW |
17 |
65,709,993 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5619:Tmem232
|
UTSW |
17 |
65,793,506 (GRCm39) |
missense |
probably benign |
0.06 |
R6176:Tmem232
|
UTSW |
17 |
65,792,867 (GRCm39) |
missense |
probably damaging |
1.00 |
R6192:Tmem232
|
UTSW |
17 |
65,737,800 (GRCm39) |
missense |
probably damaging |
1.00 |
R6223:Tmem232
|
UTSW |
17 |
65,807,191 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
R6256:Tmem232
|
UTSW |
17 |
65,785,397 (GRCm39) |
missense |
possibly damaging |
0.89 |
R6782:Tmem232
|
UTSW |
17 |
65,807,119 (GRCm39) |
missense |
possibly damaging |
0.88 |
R6856:Tmem232
|
UTSW |
17 |
65,757,305 (GRCm39) |
missense |
possibly damaging |
0.57 |
R7262:Tmem232
|
UTSW |
17 |
65,807,112 (GRCm39) |
missense |
probably benign |
|
R7459:Tmem232
|
UTSW |
17 |
65,563,384 (GRCm39) |
missense |
probably benign |
0.14 |
R7699:Tmem232
|
UTSW |
17 |
65,572,213 (GRCm39) |
missense |
probably damaging |
0.97 |
R7700:Tmem232
|
UTSW |
17 |
65,572,213 (GRCm39) |
missense |
probably damaging |
0.97 |
R8284:Tmem232
|
UTSW |
17 |
65,709,990 (GRCm39) |
missense |
probably damaging |
1.00 |
R8523:Tmem232
|
UTSW |
17 |
65,785,366 (GRCm39) |
missense |
probably damaging |
1.00 |
R8821:Tmem232
|
UTSW |
17 |
65,743,367 (GRCm39) |
missense |
probably damaging |
1.00 |
R9016:Tmem232
|
UTSW |
17 |
65,737,778 (GRCm39) |
missense |
probably benign |
0.30 |
R9420:Tmem232
|
UTSW |
17 |
65,792,881 (GRCm39) |
missense |
probably damaging |
1.00 |
R9617:Tmem232
|
UTSW |
17 |
65,807,180 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- GCCGTGATTAACATTTCGGGCAC -3'
(R):5'- GCACATCCAACAGTGGTCCTTCAG -3'
Sequencing Primer
(F):5'- ACATTTCGGGCACTAAGGTC -3'
(R):5'- CTGTCTTACCGTAGACTGATAGATAC -3'
|
Posted On |
2014-02-11 |