Incidental Mutation 'R7461:Tmem94'
| ID |
578460 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem94
|
| Ensembl Gene |
ENSMUSG00000020747 |
| Gene Name |
transmembrane protein 94 |
| Synonyms |
2310067B10Rik |
| MMRRC Submission |
045535-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.327)
|
| Stock # |
R7461 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
115765433-115799366 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 115786256 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 118
(R118L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091440
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093912]
[ENSMUST00000103033]
[ENSMUST00000103034]
[ENSMUST00000125918]
[ENSMUST00000136720]
[ENSMUST00000141871]
|
| AlphaFold |
Q7TSH8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000093912
AA Change: R118L
PolyPhen 2
Score 0.535 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000091440
Gene: ENSMUSG00000020747
AA Change: R118L
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
67 |
89 |
N/A |
INTRINSIC |
|
transmembrane domain
|
94 |
113 |
N/A |
INTRINSIC |
|
low complexity region
|
115 |
129 |
N/A |
INTRINSIC |
|
low complexity region
|
217 |
226 |
N/A |
INTRINSIC |
|
transmembrane domain
|
280 |
302 |
N/A |
INTRINSIC |
|
transmembrane domain
|
317 |
339 |
N/A |
INTRINSIC |
|
low complexity region
|
397 |
407 |
N/A |
INTRINSIC |
|
low complexity region
|
460 |
470 |
N/A |
INTRINSIC |
|
low complexity region
|
586 |
599 |
N/A |
INTRINSIC |
|
low complexity region
|
920 |
929 |
N/A |
INTRINSIC |
|
SCOP:d1eula_
|
979 |
1282 |
6e-10 |
SMART |
|
transmembrane domain
|
1310 |
1332 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000103033
AA Change: R118L
PolyPhen 2
Score 0.535 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000099322
Gene: ENSMUSG00000020747
AA Change: R118L
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
67 |
89 |
N/A |
INTRINSIC |
|
transmembrane domain
|
94 |
113 |
N/A |
INTRINSIC |
|
low complexity region
|
115 |
129 |
N/A |
INTRINSIC |
|
low complexity region
|
217 |
226 |
N/A |
INTRINSIC |
|
transmembrane domain
|
280 |
302 |
N/A |
INTRINSIC |
|
transmembrane domain
|
317 |
339 |
N/A |
INTRINSIC |
|
low complexity region
|
397 |
407 |
N/A |
INTRINSIC |
|
low complexity region
|
460 |
470 |
N/A |
INTRINSIC |
|
low complexity region
|
586 |
599 |
N/A |
INTRINSIC |
|
low complexity region
|
920 |
929 |
N/A |
INTRINSIC |
|
low complexity region
|
1096 |
1109 |
N/A |
INTRINSIC |
|
Pfam:Cation_ATPase_C
|
1120 |
1334 |
5.5e-10 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000103034
AA Change: R74L
|
| SMART Domains |
Protein: ENSMUSP00000099323
Gene: ENSMUSG00000020747
AA Change: R74L
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
52 |
69 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125918
|
| SMART Domains |
Protein: ENSMUSP00000116666
Gene: ENSMUSG00000020747
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
105 |
115 |
N/A |
INTRINSIC |
|
low complexity region
|
272 |
285 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136720
|
| SMART Domains |
Protein: ENSMUSP00000122111
Gene: ENSMUSG00000020747
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
72 |
84 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141871
|
| SMART Domains |
Protein: ENSMUSP00000118396
Gene: ENSMUSG00000020747
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
72 |
84 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.3043 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (53/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acta2 |
G |
A |
19: 34,252,531 (GRCm38) |
T8I |
probably benign |
Het |
| Adgrb2 |
CTATA |
CTATATA |
4: 130,021,213 (GRCm38) |
|
probably benign |
Het |
| Akt2 |
A |
G |
7: 27,637,170 (GRCm38) |
I448V |
probably benign |
Het |
| Anapc5 |
G |
A |
5: 122,818,865 (GRCm38) |
T117M |
probably damaging |
Het |
| Arhgap10 |
T |
C |
8: 77,388,697 (GRCm38) |
E358G |
probably damaging |
Het |
| C1qtnf6 |
T |
A |
15: 78,527,349 (GRCm38) |
K42N |
probably benign |
Het |
| Cacna1d |
A |
T |
14: 30,066,163 (GRCm38) |
D1605E |
probably benign |
Het |
| Cdkl1 |
T |
A |
12: 69,756,461 (GRCm38) |
I214L |
probably benign |
Het |
| Celsr2 |
C |
T |
3: 108,395,640 (GRCm38) |
G2506R |
probably damaging |
Het |
| Cenpj |
G |
A |
14: 56,527,044 (GRCm38) |
R1304* |
probably null |
Het |
| Cfap58 |
A |
G |
19: 47,982,122 (GRCm38) |
D593G |
possibly damaging |
Het |
| Crip2 |
T |
C |
12: 113,144,157 (GRCm38) |
|
probably null |
Het |
| Crocc2 |
G |
T |
1: 93,194,589 (GRCm38) |
A735S |
possibly damaging |
Het |
| Dcc |
A |
T |
18: 71,306,034 (GRCm38) |
L1279H |
probably damaging |
Het |
| Dnah2 |
A |
G |
11: 69,548,990 (GRCm38) |
|
probably null |
Het |
| Dpp8 |
C |
T |
9: 65,053,120 (GRCm38) |
T311M |
possibly damaging |
Het |
| Eps15 |
T |
C |
4: 109,329,725 (GRCm38) |
S330P |
probably damaging |
Het |
| Exoc2 |
C |
T |
13: 30,882,272 (GRCm38) |
V474I |
probably benign |
Het |
| Fmn1 |
A |
G |
2: 113,364,071 (GRCm38) |
T39A |
unknown |
Het |
| Foxn2 |
T |
C |
17: 88,486,883 (GRCm38) |
I416T |
possibly damaging |
Het |
| Gbp8 |
T |
C |
5: 105,031,014 (GRCm38) |
E145G |
probably damaging |
Het |
| Gjd2 |
A |
C |
2: 114,011,118 (GRCm38) |
S293A |
possibly damaging |
Het |
| Gm3676 |
T |
A |
14: 41,643,276 (GRCm38) |
I141L |
probably benign |
Het |
| Gm4131 |
A |
G |
14: 62,481,089 (GRCm38) |
Y23H |
possibly damaging |
Het |
| Gucy1b1 |
T |
A |
3: 82,039,747 (GRCm38) |
D385V |
possibly damaging |
Het |
| Hdac2 |
T |
C |
10: 36,989,236 (GRCm38) |
S149P |
probably damaging |
Het |
| Igsf9b |
A |
T |
9: 27,334,122 (GRCm38) |
R1128S |
probably benign |
Het |
| Invs |
A |
G |
4: 48,392,668 (GRCm38) |
H294R |
probably damaging |
Het |
| Itgbl1 |
T |
A |
14: 123,827,799 (GRCm38) |
S122T |
possibly damaging |
Het |
| Kansl3 |
G |
A |
1: 36,343,795 (GRCm38) |
S812F |
probably damaging |
Het |
| Kcnt1 |
A |
T |
2: 25,901,346 (GRCm38) |
H567L |
probably benign |
Het |
| Klhl30 |
G |
T |
1: 91,357,408 (GRCm38) |
V329F |
possibly damaging |
Het |
| Krt33a |
A |
G |
11: 100,011,939 (GRCm38) |
I353T |
probably damaging |
Het |
| Lrrc37 |
G |
T |
11: 103,616,290 (GRCm38) |
H1617Q |
unknown |
Het |
| Lrrc7 |
T |
C |
3: 158,187,020 (GRCm38) |
T331A |
probably benign |
Het |
| Megf10 |
G |
T |
18: 57,252,853 (GRCm38) |
V313F |
probably damaging |
Het |
| Myo15a |
A |
G |
11: 60,505,152 (GRCm38) |
T1438A |
|
Het |
| Myocd |
A |
G |
11: 65,218,603 (GRCm38) |
L114P |
probably damaging |
Het |
| Or5b21 |
A |
T |
19: 12,861,777 (GRCm38) |
M1L |
probably benign |
Het |
| Pde4b |
A |
G |
4: 102,255,306 (GRCm38) |
E29G |
probably damaging |
Het |
| Por |
G |
T |
5: 135,729,504 (GRCm38) |
A112S |
probably damaging |
Het |
| Prkcq |
T |
C |
2: 11,299,410 (GRCm38) |
F651S |
probably damaging |
Het |
| Selenoi |
A |
G |
5: 30,266,928 (GRCm38) |
I376V |
possibly damaging |
Het |
| Setbp1 |
A |
C |
18: 78,856,492 (GRCm38) |
M1320R |
probably benign |
Het |
| Skint6 |
A |
T |
4: 113,177,046 (GRCm38) |
|
probably null |
Het |
| Tdrd6 |
T |
C |
17: 43,627,926 (GRCm38) |
T744A |
probably benign |
Het |
| Tmem209 |
C |
T |
6: 30,508,470 (GRCm38) |
W61* |
probably null |
Het |
| Top1 |
A |
T |
2: 160,712,842 (GRCm38) |
|
probably null |
Het |
| Tradd |
T |
C |
8: 105,260,564 (GRCm38) |
K37E |
possibly damaging |
Het |
| Ttc28 |
C |
A |
5: 111,224,129 (GRCm38) |
L846M |
probably damaging |
Het |
| Umodl1 |
T |
A |
17: 30,988,057 (GRCm38) |
C807* |
probably null |
Het |
| Upf2 |
T |
A |
2: 5,973,536 (GRCm38) |
S404T |
unknown |
Het |
| Wscd1 |
T |
C |
11: 71,759,973 (GRCm38) |
L42P |
possibly damaging |
Het |
|
| Other mutations in Tmem94 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00885:Tmem94
|
APN |
11 |
115,795,328 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01086:Tmem94
|
APN |
11 |
115,790,284 (GRCm38) |
missense |
probably benign |
0.25 |
|
IGL01314:Tmem94
|
APN |
11 |
115,790,009 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02123:Tmem94
|
APN |
11 |
115,787,538 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
IGL02355:Tmem94
|
APN |
11 |
115,794,745 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02362:Tmem94
|
APN |
11 |
115,794,745 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02366:Tmem94
|
APN |
11 |
115,797,432 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02450:Tmem94
|
APN |
11 |
115,793,071 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02623:Tmem94
|
APN |
11 |
115,796,401 (GRCm38) |
nonsense |
probably null |
|
|
IGL02816:Tmem94
|
APN |
11 |
115,788,704 (GRCm38) |
splice site |
probably null |
|
|
IGL02836:Tmem94
|
APN |
11 |
115,792,939 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03061:Tmem94
|
APN |
11 |
115,792,421 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
IGL03109:Tmem94
|
APN |
11 |
115,792,398 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03255:Tmem94
|
APN |
11 |
115,792,068 (GRCm38) |
unclassified |
probably benign |
|
|
IGL03397:Tmem94
|
APN |
11 |
115,787,568 (GRCm38) |
unclassified |
probably benign |
|
|
capitulate
|
UTSW |
11 |
115,796,746 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0083:Tmem94
|
UTSW |
11 |
115,796,724 (GRCm38) |
unclassified |
probably benign |
|
|
R0336:Tmem94
|
UTSW |
11 |
115,787,385 (GRCm38) |
missense |
probably benign |
|
|
R0370:Tmem94
|
UTSW |
11 |
115,788,717 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0494:Tmem94
|
UTSW |
11 |
115,794,781 (GRCm38) |
splice site |
probably null |
|
|
R0638:Tmem94
|
UTSW |
11 |
115,792,060 (GRCm38) |
splice site |
probably null |
|
|
R0647:Tmem94
|
UTSW |
11 |
115,796,795 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0900:Tmem94
|
UTSW |
11 |
115,791,978 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1469:Tmem94
|
UTSW |
11 |
115,795,091 (GRCm38) |
unclassified |
probably benign |
|
|
R1616:Tmem94
|
UTSW |
11 |
115,796,145 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1621:Tmem94
|
UTSW |
11 |
115,785,845 (GRCm38) |
missense |
probably benign |
|
|
R1682:Tmem94
|
UTSW |
11 |
115,790,230 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1723:Tmem94
|
UTSW |
11 |
115,794,748 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1760:Tmem94
|
UTSW |
11 |
115,796,754 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1826:Tmem94
|
UTSW |
11 |
115,793,213 (GRCm38) |
nonsense |
probably null |
|
|
R1926:Tmem94
|
UTSW |
11 |
115,792,900 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R1956:Tmem94
|
UTSW |
11 |
115,788,674 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R2033:Tmem94
|
UTSW |
11 |
115,794,328 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R2135:Tmem94
|
UTSW |
11 |
115,794,749 (GRCm38) |
missense |
probably benign |
|
|
R2419:Tmem94
|
UTSW |
11 |
115,796,815 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2511:Tmem94
|
UTSW |
11 |
115,791,961 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3932:Tmem94
|
UTSW |
11 |
115,789,254 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4708:Tmem94
|
UTSW |
11 |
115,786,295 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R4812:Tmem94
|
UTSW |
11 |
115,796,112 (GRCm38) |
nonsense |
probably null |
|
|
R5026:Tmem94
|
UTSW |
11 |
115,793,104 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5714:Tmem94
|
UTSW |
11 |
115,793,190 (GRCm38) |
missense |
probably benign |
0.04 |
|
R5716:Tmem94
|
UTSW |
11 |
115,792,428 (GRCm38) |
missense |
probably benign |
0.17 |
|
R6180:Tmem94
|
UTSW |
11 |
115,791,031 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R6295:Tmem94
|
UTSW |
11 |
115,796,746 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6594:Tmem94
|
UTSW |
11 |
115,798,286 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6696:Tmem94
|
UTSW |
11 |
115,791,988 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6883:Tmem94
|
UTSW |
11 |
115,796,461 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6939:Tmem94
|
UTSW |
11 |
115,785,830 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R7060:Tmem94
|
UTSW |
11 |
115,792,938 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7171:Tmem94
|
UTSW |
11 |
115,790,955 (GRCm38) |
splice site |
probably null |
|
|
R7181:Tmem94
|
UTSW |
11 |
115,794,774 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R7290:Tmem94
|
UTSW |
11 |
115,786,256 (GRCm38) |
missense |
possibly damaging |
0.54 |
|
R7292:Tmem94
|
UTSW |
11 |
115,786,256 (GRCm38) |
missense |
possibly damaging |
0.54 |
|
R7345:Tmem94
|
UTSW |
11 |
115,786,256 (GRCm38) |
missense |
possibly damaging |
0.54 |
|
R7346:Tmem94
|
UTSW |
11 |
115,786,256 (GRCm38) |
missense |
possibly damaging |
0.54 |
|
R7378:Tmem94
|
UTSW |
11 |
115,794,174 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7380:Tmem94
|
UTSW |
11 |
115,796,145 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7460:Tmem94
|
UTSW |
11 |
115,786,256 (GRCm38) |
missense |
possibly damaging |
0.54 |
|
R7463:Tmem94
|
UTSW |
11 |
115,786,256 (GRCm38) |
missense |
possibly damaging |
0.54 |
|
R7464:Tmem94
|
UTSW |
11 |
115,786,256 (GRCm38) |
missense |
possibly damaging |
0.54 |
|
R7465:Tmem94
|
UTSW |
11 |
115,786,256 (GRCm38) |
missense |
possibly damaging |
0.54 |
|
R7673:Tmem94
|
UTSW |
11 |
115,788,378 (GRCm38) |
missense |
probably benign |
0.05 |
|
R7995:Tmem94
|
UTSW |
11 |
115,797,971 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8094:Tmem94
|
UTSW |
11 |
115,788,392 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8447:Tmem94
|
UTSW |
11 |
115,797,870 (GRCm38) |
missense |
probably benign |
|
|
R8447:Tmem94
|
UTSW |
11 |
115,797,197 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R8825:Tmem94
|
UTSW |
11 |
115,797,375 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8910:Tmem94
|
UTSW |
11 |
115,797,426 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9226:Tmem94
|
UTSW |
11 |
115,792,365 (GRCm38) |
missense |
probably damaging |
1.00 |
|
RF003:Tmem94
|
UTSW |
11 |
115,796,132 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0024:Tmem94
|
UTSW |
11 |
115,786,253 (GRCm38) |
missense |
probably benign |
0.34 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGAGGAGCTGTAGTGACC -3'
(R):5'- CCAGTACCAGTGGACAAGAC -3'
Sequencing Primer
(F):5'- CTGTAGTGACCCGAGCATAG -3'
(R):5'- GGGGGTAAAAACTCTCAACTTCC -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation