Incidental Mutation 'IGL03065:Tmem132c'
ID |
409663 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tmem132c
|
Ensembl Gene |
ENSMUSG00000034324 |
Gene Name |
transmembrane protein 132C |
Synonyms |
2810482M11Rik, 4632425D07Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.088)
|
Stock # |
IGL03065
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
127318890-127642854 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 127640688 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 953
(Y953C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113090
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119026]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000119026
AA Change: Y953C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000113090 Gene: ENSMUSG00000034324 AA Change: Y953C
Domain | Start | End | E-Value | Type |
low complexity region
|
14 |
21 |
N/A |
INTRINSIC |
Pfam:TMEM132D_N
|
58 |
187 |
1.2e-54 |
PFAM |
Pfam:TMEM132
|
444 |
787 |
4.5e-143 |
PFAM |
Pfam:TMEM132D_C
|
892 |
980 |
2.4e-39 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128068
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132592
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145748
|
SMART Domains |
Protein: ENSMUSP00000121783 Gene: ENSMUSG00000034324
Domain | Start | End | E-Value | Type |
Pfam:TMEM132
|
1 |
112 |
6.2e-31 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrl1 |
A |
G |
8: 84,665,143 (GRCm39) |
M1322V |
possibly damaging |
Het |
Adprh |
C |
T |
16: 38,266,396 (GRCm39) |
V249I |
probably benign |
Het |
Afg2a |
T |
C |
3: 37,486,328 (GRCm39) |
V350A |
possibly damaging |
Het |
Als2 |
T |
C |
1: 59,255,031 (GRCm39) |
S109G |
probably benign |
Het |
Bpifa1 |
T |
A |
2: 153,989,562 (GRCm39) |
N250K |
probably damaging |
Het |
Capn9 |
A |
C |
8: 125,332,298 (GRCm39) |
Y423S |
probably damaging |
Het |
Cd200r1 |
T |
G |
16: 44,614,645 (GRCm39) |
V308G |
probably benign |
Het |
Cic |
T |
C |
7: 24,985,246 (GRCm39) |
|
probably benign |
Het |
Col5a1 |
T |
A |
2: 27,922,757 (GRCm39) |
I275N |
possibly damaging |
Het |
Col6a4 |
C |
A |
9: 105,918,363 (GRCm39) |
|
probably benign |
Het |
Cpeb1 |
T |
C |
7: 81,086,038 (GRCm39) |
R35G |
probably benign |
Het |
Cul1 |
A |
G |
6: 47,472,015 (GRCm39) |
Y52C |
probably damaging |
Het |
Dctn1 |
T |
C |
6: 83,169,475 (GRCm39) |
F496L |
probably damaging |
Het |
Dock11 |
G |
T |
X: 35,310,699 (GRCm39) |
|
probably benign |
Het |
Eaf2 |
C |
T |
16: 36,648,484 (GRCm39) |
R12H |
probably benign |
Het |
Gcc1 |
T |
A |
6: 28,418,401 (GRCm39) |
Q644L |
possibly damaging |
Het |
Gm44865 |
C |
T |
7: 108,165,004 (GRCm39) |
|
probably benign |
Het |
Golgb1 |
C |
T |
16: 36,733,228 (GRCm39) |
S825L |
probably benign |
Het |
Gstp3 |
C |
T |
19: 4,108,730 (GRCm39) |
|
probably null |
Het |
Heph |
T |
A |
X: 95,571,173 (GRCm39) |
I669N |
probably benign |
Het |
Il12rb1 |
A |
T |
8: 71,273,202 (GRCm39) |
Y635F |
possibly damaging |
Het |
Ing3 |
G |
A |
6: 21,971,221 (GRCm39) |
A331T |
probably benign |
Het |
Ipo8 |
T |
A |
6: 148,686,205 (GRCm39) |
I762F |
probably benign |
Het |
Itpr3 |
G |
A |
17: 27,310,907 (GRCm39) |
R510Q |
probably damaging |
Het |
Kif16b |
A |
G |
2: 142,461,833 (GRCm39) |
Y1273H |
probably damaging |
Het |
Map3k14 |
T |
C |
11: 103,115,927 (GRCm39) |
E784G |
probably damaging |
Het |
Mpdz |
A |
T |
4: 81,210,802 (GRCm39) |
N1694K |
probably damaging |
Het |
Myh13 |
T |
C |
11: 67,235,679 (GRCm39) |
F648S |
probably damaging |
Het |
Myh4 |
A |
G |
11: 67,149,982 (GRCm39) |
H1847R |
probably benign |
Het |
Ncoa7 |
T |
A |
10: 30,523,993 (GRCm39) |
D840V |
probably damaging |
Het |
Nxpe2 |
T |
A |
9: 48,230,992 (GRCm39) |
N459I |
possibly damaging |
Het |
Or4d10c |
C |
A |
19: 12,065,975 (GRCm39) |
L60F |
possibly damaging |
Het |
Or4k2 |
C |
A |
14: 50,424,465 (GRCm39) |
D70Y |
probably damaging |
Het |
Or4k47 |
T |
C |
2: 111,451,535 (GRCm39) |
K295E |
probably damaging |
Het |
Ovgp1 |
T |
C |
3: 105,893,682 (GRCm39) |
F485S |
probably benign |
Het |
Parp4 |
G |
T |
14: 56,875,326 (GRCm39) |
A1182S |
probably benign |
Het |
Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
Pla2g15 |
G |
A |
8: 106,886,851 (GRCm39) |
R114H |
probably benign |
Het |
Plppr3 |
T |
A |
10: 79,701,880 (GRCm39) |
T321S |
probably benign |
Het |
Rnf113a1 |
A |
G |
X: 36,455,748 (GRCm39) |
D235G |
probably benign |
Het |
Rsrp1 |
A |
G |
4: 134,651,700 (GRCm39) |
T155A |
possibly damaging |
Het |
Simc1 |
G |
T |
13: 54,685,025 (GRCm39) |
C87F |
probably damaging |
Het |
Slco1a5 |
A |
G |
6: 142,194,569 (GRCm39) |
|
probably benign |
Het |
Slco1a8 |
C |
A |
6: 141,938,228 (GRCm39) |
L230F |
probably damaging |
Het |
Smyd5 |
A |
G |
6: 85,419,146 (GRCm39) |
D276G |
possibly damaging |
Het |
Trank1 |
T |
A |
9: 111,219,361 (GRCm39) |
S2033T |
possibly damaging |
Het |
Trim69 |
A |
G |
2: 122,009,115 (GRCm39) |
T392A |
probably damaging |
Het |
Tsks |
T |
C |
7: 44,592,724 (GRCm39) |
V6A |
probably damaging |
Het |
Yjefn3 |
A |
G |
8: 70,342,206 (GRCm39) |
|
probably benign |
Het |
Zfp263 |
T |
G |
16: 3,564,344 (GRCm39) |
D211E |
probably benign |
Het |
Zfp994 |
A |
T |
17: 22,421,661 (GRCm39) |
F51L |
probably damaging |
Het |
Znfx1 |
A |
T |
2: 166,897,685 (GRCm39) |
M413K |
probably benign |
Het |
|
Other mutations in Tmem132c |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00869:Tmem132c
|
APN |
5 |
127,640,306 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL00985:Tmem132c
|
APN |
5 |
127,581,930 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01599:Tmem132c
|
APN |
5 |
127,436,616 (GRCm39) |
splice site |
probably benign |
|
IGL01750:Tmem132c
|
APN |
5 |
127,540,023 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL01893:Tmem132c
|
APN |
5 |
127,540,093 (GRCm39) |
missense |
possibly damaging |
0.51 |
IGL02143:Tmem132c
|
APN |
5 |
127,640,466 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02164:Tmem132c
|
APN |
5 |
127,613,441 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02252:Tmem132c
|
APN |
5 |
127,539,991 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL02527:Tmem132c
|
APN |
5 |
127,436,675 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02584:Tmem132c
|
APN |
5 |
127,582,063 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02878:Tmem132c
|
APN |
5 |
127,640,154 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03120:Tmem132c
|
APN |
5 |
127,640,448 (GRCm39) |
missense |
probably benign |
0.06 |
IGL03380:Tmem132c
|
APN |
5 |
127,613,506 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03387:Tmem132c
|
APN |
5 |
127,640,784 (GRCm39) |
missense |
probably benign |
0.00 |
R0106:Tmem132c
|
UTSW |
5 |
127,631,733 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0106:Tmem132c
|
UTSW |
5 |
127,631,733 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0415:Tmem132c
|
UTSW |
5 |
127,640,769 (GRCm39) |
missense |
probably damaging |
1.00 |
R0607:Tmem132c
|
UTSW |
5 |
127,640,617 (GRCm39) |
nonsense |
probably null |
|
R1413:Tmem132c
|
UTSW |
5 |
127,640,631 (GRCm39) |
missense |
probably damaging |
1.00 |
R1531:Tmem132c
|
UTSW |
5 |
127,436,955 (GRCm39) |
missense |
probably damaging |
1.00 |
R1648:Tmem132c
|
UTSW |
5 |
127,540,120 (GRCm39) |
splice site |
probably benign |
|
R2148:Tmem132c
|
UTSW |
5 |
127,540,026 (GRCm39) |
missense |
probably damaging |
1.00 |
R2149:Tmem132c
|
UTSW |
5 |
127,540,026 (GRCm39) |
missense |
probably damaging |
1.00 |
R2259:Tmem132c
|
UTSW |
5 |
127,581,988 (GRCm39) |
missense |
probably benign |
0.01 |
R3853:Tmem132c
|
UTSW |
5 |
127,436,933 (GRCm39) |
missense |
probably benign |
0.00 |
R4204:Tmem132c
|
UTSW |
5 |
127,640,829 (GRCm39) |
missense |
possibly damaging |
0.73 |
R4543:Tmem132c
|
UTSW |
5 |
127,582,041 (GRCm39) |
missense |
probably benign |
0.00 |
R4701:Tmem132c
|
UTSW |
5 |
127,641,560 (GRCm39) |
unclassified |
probably benign |
|
R5017:Tmem132c
|
UTSW |
5 |
127,640,414 (GRCm39) |
missense |
probably benign |
0.13 |
R5037:Tmem132c
|
UTSW |
5 |
127,630,199 (GRCm39) |
missense |
probably benign |
0.42 |
R5327:Tmem132c
|
UTSW |
5 |
127,640,816 (GRCm39) |
missense |
possibly damaging |
0.50 |
R5423:Tmem132c
|
UTSW |
5 |
127,640,907 (GRCm39) |
missense |
probably benign |
0.02 |
R5548:Tmem132c
|
UTSW |
5 |
127,628,587 (GRCm39) |
nonsense |
probably null |
|
R6425:Tmem132c
|
UTSW |
5 |
127,630,329 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6717:Tmem132c
|
UTSW |
5 |
127,641,093 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6899:Tmem132c
|
UTSW |
5 |
127,628,744 (GRCm39) |
missense |
probably damaging |
1.00 |
R7007:Tmem132c
|
UTSW |
5 |
127,436,679 (GRCm39) |
missense |
probably damaging |
1.00 |
R7297:Tmem132c
|
UTSW |
5 |
127,437,281 (GRCm39) |
missense |
probably benign |
0.06 |
R7326:Tmem132c
|
UTSW |
5 |
127,641,123 (GRCm39) |
missense |
possibly damaging |
0.51 |
R7386:Tmem132c
|
UTSW |
5 |
127,640,990 (GRCm39) |
missense |
probably benign |
0.16 |
R7504:Tmem132c
|
UTSW |
5 |
127,631,696 (GRCm39) |
missense |
probably damaging |
1.00 |
R7640:Tmem132c
|
UTSW |
5 |
127,640,070 (GRCm39) |
missense |
probably damaging |
1.00 |
R7718:Tmem132c
|
UTSW |
5 |
127,640,504 (GRCm39) |
missense |
probably benign |
0.06 |
R7762:Tmem132c
|
UTSW |
5 |
127,631,760 (GRCm39) |
missense |
possibly damaging |
0.90 |
R7818:Tmem132c
|
UTSW |
5 |
127,641,152 (GRCm39) |
makesense |
probably null |
|
R8117:Tmem132c
|
UTSW |
5 |
127,437,176 (GRCm39) |
missense |
probably benign |
0.22 |
R8425:Tmem132c
|
UTSW |
5 |
127,641,421 (GRCm39) |
missense |
|
|
R8749:Tmem132c
|
UTSW |
5 |
127,437,003 (GRCm39) |
missense |
possibly damaging |
0.75 |
R8771:Tmem132c
|
UTSW |
5 |
127,437,192 (GRCm39) |
missense |
probably benign |
0.00 |
R8798:Tmem132c
|
UTSW |
5 |
127,437,217 (GRCm39) |
nonsense |
probably null |
|
R9372:Tmem132c
|
UTSW |
5 |
127,640,145 (GRCm39) |
missense |
probably damaging |
1.00 |
X0067:Tmem132c
|
UTSW |
5 |
127,613,471 (GRCm39) |
missense |
possibly damaging |
0.79 |
Z1088:Tmem132c
|
UTSW |
5 |
127,581,985 (GRCm39) |
missense |
probably benign |
0.14 |
|
Posted On |
2016-08-02 |