Incidental Mutation 'R4155:Tmem232'
| ID |
315113 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem232
|
| Ensembl Gene |
ENSMUSG00000045036 |
| Gene Name |
transmembrane protein 232 |
| Synonyms |
LOC381107, E130009J12Rik |
| MMRRC Submission |
040999-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
R4155 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
65256005-65540782 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 65436333 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 321
(M321K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000083927
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062161]
[ENSMUST00000086722]
|
| AlphaFold |
Q5K6N0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000062161
AA Change: M321K
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000055652
Gene: ENSMUSG00000045036
AA Change: M321K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TMEM232
|
40 |
488 |
5.3e-235 |
PFAM |
|
coiled coil region
|
598 |
634 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000086722
AA Change: M321K
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000083927
Gene: ENSMUSG00000045036
AA Change: M321K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
61 |
67 |
N/A |
INTRINSIC |
|
coiled coil region
|
598 |
634 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410004B18Rik |
T |
A |
3: 145,938,263 (GRCm38) |
F69I |
possibly damaging |
Het |
| Akt3 |
A |
G |
1: 177,096,977 (GRCm38) |
I184T |
possibly damaging |
Het |
| Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 118,121,899 (GRCm38) |
|
probably benign |
Het |
| Armc2 |
A |
G |
10: 42,011,867 (GRCm38) |
V40A |
probably damaging |
Het |
| Ash2l |
A |
G |
8: 25,817,454 (GRCm38) |
Y485H |
probably damaging |
Het |
| Atr |
T |
A |
9: 95,888,124 (GRCm38) |
C1202* |
probably null |
Het |
| Bcl11b |
A |
T |
12: 107,917,425 (GRCm38) |
|
probably null |
Het |
| Birc6 |
C |
A |
17: 74,596,939 (GRCm38) |
S1242R |
probably benign |
Het |
| Blm |
GCCTCCTCCTCCTCCTCCTCCTCCTCCTCC |
GCCTCCTCCTCCTCCTCCTCCTCCTCC |
7: 80,512,904 (GRCm38) |
|
probably benign |
Het |
| Bsx |
A |
G |
9: 40,876,336 (GRCm38) |
E102G |
probably benign |
Het |
| Casq2 |
A |
T |
3: 102,133,102 (GRCm38) |
|
probably null |
Het |
| Ccpg1 |
C |
A |
9: 73,012,167 (GRCm38) |
Q355K |
probably benign |
Het |
| Copa |
T |
G |
1: 172,101,425 (GRCm38) |
N251K |
probably damaging |
Het |
| Cst8 |
C |
A |
2: 148,800,076 (GRCm38) |
A31E |
possibly damaging |
Het |
| D6Ertd527e |
C |
G |
6: 87,111,524 (GRCm38) |
T223S |
unknown |
Het |
| Ecd |
A |
G |
14: 20,324,564 (GRCm38) |
S503P |
probably damaging |
Het |
| Fbn2 |
C |
A |
18: 58,023,287 (GRCm38) |
E2487* |
probably null |
Het |
| Hoxd9 |
A |
G |
2: 74,699,323 (GRCm38) |
I308V |
probably benign |
Het |
| Ica1l |
G |
A |
1: 60,013,893 (GRCm38) |
A162V |
possibly damaging |
Het |
| Kcnj15 |
A |
T |
16: 95,296,307 (GRCm38) |
K263* |
probably null |
Het |
| Mettl4 |
T |
C |
17: 94,740,575 (GRCm38) |
M213V |
probably benign |
Het |
| Nalf1 |
T |
A |
8: 9,233,023 (GRCm38) |
Y342F |
possibly damaging |
Het |
| Ncan |
C |
A |
8: 70,110,077 (GRCm38) |
E510D |
possibly damaging |
Het |
| Ndufs4 |
A |
T |
13: 114,307,854 (GRCm38) |
S129R |
probably benign |
Het |
| Or14a259 |
T |
A |
7: 86,364,062 (GRCm38) |
I92L |
probably benign |
Het |
| Or4c127 |
A |
G |
2: 90,002,660 (GRCm38) |
S85G |
probably benign |
Het |
| Or52s19 |
T |
C |
7: 103,359,156 (GRCm38) |
T13A |
probably benign |
Het |
| Or8d1b |
A |
T |
9: 38,976,155 (GRCm38) |
T160S |
probably damaging |
Het |
| P2rx5 |
A |
G |
11: 73,171,829 (GRCm38) |
T455A |
probably damaging |
Het |
| Pcdh1 |
T |
A |
18: 38,203,106 (GRCm38) |
T159S |
probably damaging |
Het |
| Poln |
A |
G |
5: 34,009,649 (GRCm38) |
V755A |
possibly damaging |
Het |
| Pou4f1 |
C |
T |
14: 104,467,717 (GRCm38) |
S6N |
possibly damaging |
Het |
| Rpap1 |
C |
T |
2: 119,774,179 (GRCm38) |
R416H |
probably damaging |
Het |
| Samd4 |
T |
A |
14: 47,052,946 (GRCm38) |
M170K |
possibly damaging |
Het |
| Srgn |
A |
G |
10: 62,497,834 (GRCm38) |
F55L |
possibly damaging |
Het |
| Tmcc1 |
C |
T |
6: 116,133,804 (GRCm38) |
G176D |
probably benign |
Het |
| Tnfsf11 |
A |
G |
14: 78,299,869 (GRCm38) |
M118T |
probably benign |
Het |
| Tns1 |
T |
A |
1: 73,914,631 (GRCm38) |
N1848Y |
probably damaging |
Het |
| Ttc27 |
T |
G |
17: 74,840,460 (GRCm38) |
I669S |
probably benign |
Het |
| Uaca |
A |
G |
9: 60,871,753 (GRCm38) |
S1141G |
probably benign |
Het |
| Usp34 |
T |
A |
11: 23,417,676 (GRCm38) |
V1671E |
probably damaging |
Het |
| Wdr64 |
T |
A |
1: 175,769,606 (GRCm38) |
L73H |
probably benign |
Het |
| Zfp410 |
G |
A |
12: 84,327,432 (GRCm38) |
R181H |
probably damaging |
Het |
|
| Other mutations in Tmem232 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00897:Tmem232
|
APN |
17 |
65,256,574 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
IGL00954:Tmem232
|
APN |
17 |
65,500,153 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01530:Tmem232
|
APN |
17 |
65,256,548 (GRCm38) |
nonsense |
probably null |
|
|
IGL02881:Tmem232
|
APN |
17 |
65,450,370 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02969:Tmem232
|
APN |
17 |
65,256,563 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
IGL02972:Tmem232
|
APN |
17 |
65,476,673 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL03028:Tmem232
|
APN |
17 |
65,256,389 (GRCm38) |
missense |
probably benign |
0.14 |
|
IGL03293:Tmem232
|
APN |
17 |
65,450,374 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0380:Tmem232
|
UTSW |
17 |
65,256,448 (GRCm38) |
missense |
probably benign |
0.23 |
|
R0432:Tmem232
|
UTSW |
17 |
65,256,503 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0524:Tmem232
|
UTSW |
17 |
65,485,942 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0548:Tmem232
|
UTSW |
17 |
65,382,620 (GRCm38) |
missense |
probably benign |
0.22 |
|
R1345:Tmem232
|
UTSW |
17 |
65,450,406 (GRCm38) |
missense |
possibly damaging |
0.60 |
|
R1521:Tmem232
|
UTSW |
17 |
65,484,501 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1954:Tmem232
|
UTSW |
17 |
65,484,487 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1955:Tmem232
|
UTSW |
17 |
65,484,487 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2012:Tmem232
|
UTSW |
17 |
65,500,172 (GRCm38) |
missense |
probably benign |
0.21 |
|
R2294:Tmem232
|
UTSW |
17 |
65,450,441 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2369:Tmem232
|
UTSW |
17 |
65,402,997 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2384:Tmem232
|
UTSW |
17 |
65,402,857 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2894:Tmem232
|
UTSW |
17 |
65,450,413 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3431:Tmem232
|
UTSW |
17 |
65,265,302 (GRCm38) |
splice site |
probably null |
|
|
R3788:Tmem232
|
UTSW |
17 |
65,382,633 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R3789:Tmem232
|
UTSW |
17 |
65,382,633 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R3789:Tmem232
|
UTSW |
17 |
65,382,525 (GRCm38) |
missense |
probably benign |
0.02 |
|
R4691:Tmem232
|
UTSW |
17 |
65,265,242 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R4838:Tmem232
|
UTSW |
17 |
65,430,888 (GRCm38) |
missense |
probably benign |
0.04 |
|
R5340:Tmem232
|
UTSW |
17 |
65,402,998 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R5619:Tmem232
|
UTSW |
17 |
65,486,511 (GRCm38) |
missense |
probably benign |
0.06 |
|
R6176:Tmem232
|
UTSW |
17 |
65,485,872 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6192:Tmem232
|
UTSW |
17 |
65,430,805 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6223:Tmem232
|
UTSW |
17 |
65,500,196 (GRCm38) |
start codon destroyed |
probably null |
0.99 |
|
R6256:Tmem232
|
UTSW |
17 |
65,478,402 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R6782:Tmem232
|
UTSW |
17 |
65,500,124 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R6856:Tmem232
|
UTSW |
17 |
65,450,310 (GRCm38) |
missense |
possibly damaging |
0.57 |
|
R7262:Tmem232
|
UTSW |
17 |
65,500,117 (GRCm38) |
missense |
probably benign |
|
|
R7459:Tmem232
|
UTSW |
17 |
65,256,389 (GRCm38) |
missense |
probably benign |
0.14 |
|
R7699:Tmem232
|
UTSW |
17 |
65,265,218 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R7700:Tmem232
|
UTSW |
17 |
65,265,218 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R8284:Tmem232
|
UTSW |
17 |
65,402,995 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8523:Tmem232
|
UTSW |
17 |
65,478,371 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8821:Tmem232
|
UTSW |
17 |
65,436,372 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9016:Tmem232
|
UTSW |
17 |
65,430,783 (GRCm38) |
missense |
probably benign |
0.30 |
|
R9420:Tmem232
|
UTSW |
17 |
65,485,886 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9617:Tmem232
|
UTSW |
17 |
65,500,185 (GRCm38) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GACATTGTGGTAAACGAGCATTC -3'
(R):5'- TGGTGCTTATGACTCCAGCC -3'
Sequencing Primer
(F):5'- ATTATTACCGATTTATACACACCAGG -3'
(R):5'- ATGACTCCAGCCTAGTATTGC -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation