Incidental Mutation 'R6295:Tmem94'
ID |
508720 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmem94
|
Ensembl Gene |
ENSMUSG00000020747 |
Gene Name |
transmembrane protein 94 |
Synonyms |
2310067B10Rik |
MMRRC Submission |
044463-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.198)
|
Stock # |
R6295 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
115656245-115689859 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 115687572 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Methionine
at position 1144
(L1144M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099322
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041684]
[ENSMUST00000093912]
[ENSMUST00000103033]
[ENSMUST00000125918]
|
AlphaFold |
Q7TSH8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000041684
|
SMART Domains |
Protein: ENSMUSP00000041328 Gene: ENSMUSG00000034471
Domain | Start | End | E-Value | Type |
ANK
|
2 |
32 |
1.27e3 |
SMART |
ANK
|
48 |
77 |
3.01e-4 |
SMART |
ANK
|
81 |
110 |
3.41e-3 |
SMART |
ANK
|
114 |
143 |
1.4e-4 |
SMART |
ANK
|
147 |
176 |
3.26e0 |
SMART |
ANK
|
188 |
217 |
3.33e-6 |
SMART |
ANK
|
220 |
249 |
4.82e-3 |
SMART |
SH3
|
284 |
346 |
1.13e-6 |
SMART |
SAM
|
485 |
551 |
8.53e-12 |
SMART |
SAM
|
554 |
621 |
1.41e-12 |
SMART |
low complexity region
|
762 |
774 |
N/A |
INTRINSIC |
Pfam:Caskin-Pro-rich
|
793 |
883 |
1.4e-32 |
PFAM |
low complexity region
|
904 |
921 |
N/A |
INTRINSIC |
low complexity region
|
925 |
944 |
N/A |
INTRINSIC |
low complexity region
|
961 |
973 |
N/A |
INTRINSIC |
low complexity region
|
1042 |
1069 |
N/A |
INTRINSIC |
low complexity region
|
1084 |
1090 |
N/A |
INTRINSIC |
low complexity region
|
1120 |
1132 |
N/A |
INTRINSIC |
Pfam:Caskin-tail
|
1144 |
1201 |
4.5e-28 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000093912
AA Change: L1144M
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000091440 Gene: ENSMUSG00000020747 AA Change: L1144M
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 |
probably damaging
Transcript: ENSMUST00000103033
AA Change: L1144M
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000099322 Gene: ENSMUSG00000020747 AA Change: L1144M
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 |
noncoding transcript
Transcript: ENSMUST00000125658
|
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 |
noncoding transcript
Transcript: ENSMUST00000175989
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
98% (49/50) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb5 |
A |
C |
12: 118,838,379 (GRCm39) |
V1061G |
probably damaging |
Het |
Acap1 |
A |
G |
11: 69,781,413 (GRCm39) |
|
probably null |
Het |
Apbb1 |
A |
G |
7: 105,215,902 (GRCm39) |
F112L |
probably benign |
Het |
Atg9a |
A |
G |
1: 75,161,702 (GRCm39) |
S615P |
probably benign |
Het |
Atp8a2 |
G |
A |
14: 60,249,848 (GRCm39) |
R548* |
probably null |
Het |
Bbof1 |
A |
T |
12: 84,457,942 (GRCm39) |
N69I |
possibly damaging |
Het |
Bcl2l14 |
T |
A |
6: 134,404,370 (GRCm39) |
V186D |
probably benign |
Het |
Bmp1 |
T |
G |
14: 70,728,823 (GRCm39) |
Y583S |
possibly damaging |
Het |
Boc |
A |
C |
16: 44,312,711 (GRCm39) |
S586R |
probably benign |
Het |
Btbd9 |
A |
T |
17: 30,518,710 (GRCm39) |
|
probably null |
Het |
Cacna1e |
T |
C |
1: 154,317,919 (GRCm39) |
M1180V |
probably damaging |
Het |
Ciao1 |
T |
C |
2: 127,088,376 (GRCm39) |
H149R |
probably damaging |
Het |
Cops5 |
T |
C |
1: 10,100,920 (GRCm39) |
|
probably benign |
Het |
Doc2b |
C |
T |
11: 75,671,093 (GRCm39) |
R209Q |
probably damaging |
Het |
Doc2b |
T |
C |
11: 75,686,451 (GRCm39) |
Y90C |
probably benign |
Het |
Ep400 |
A |
G |
5: 110,901,675 (GRCm39) |
F481L |
probably benign |
Het |
Fat4 |
T |
A |
3: 39,061,229 (GRCm39) |
|
probably null |
Het |
Fbxw16 |
T |
A |
9: 109,277,837 (GRCm39) |
|
probably benign |
Het |
Fbxw27 |
T |
C |
9: 109,601,154 (GRCm39) |
E17G |
possibly damaging |
Het |
Gm29735 |
G |
A |
7: 141,710,367 (GRCm39) |
P162S |
unknown |
Het |
Gypa |
T |
G |
8: 81,222,969 (GRCm39) |
S24R |
unknown |
Het |
Hdhd5 |
T |
C |
6: 120,495,485 (GRCm39) |
N153D |
probably benign |
Het |
Ibsp |
C |
A |
5: 104,449,987 (GRCm39) |
|
probably null |
Het |
Klhdc3 |
C |
T |
17: 46,988,972 (GRCm39) |
V73I |
probably benign |
Het |
Lrrc37a |
T |
C |
11: 103,388,459 (GRCm39) |
E2322G |
unknown |
Het |
Lrrtm3 |
T |
C |
10: 63,765,913 (GRCm39) |
H558R |
probably benign |
Het |
Mbtd1 |
C |
T |
11: 93,823,058 (GRCm39) |
H493Y |
possibly damaging |
Het |
Mphosph9 |
A |
G |
5: 124,458,978 (GRCm39) |
V64A |
possibly damaging |
Het |
Nthl1 |
C |
T |
17: 24,857,475 (GRCm39) |
R251C |
probably damaging |
Het |
Numa1 |
G |
A |
7: 101,649,974 (GRCm39) |
R1235H |
probably benign |
Het |
Opn1sw |
T |
A |
6: 29,379,413 (GRCm39) |
Y197F |
possibly damaging |
Het |
Or10a3m |
T |
C |
7: 108,312,845 (GRCm39) |
V95A |
probably damaging |
Het |
Pcca |
A |
T |
14: 122,896,187 (GRCm39) |
I268F |
probably benign |
Het |
Per2 |
A |
T |
1: 91,377,594 (GRCm39) |
D76E |
unknown |
Het |
Pfas |
T |
C |
11: 68,888,825 (GRCm39) |
N374S |
probably benign |
Het |
Pomk |
C |
A |
8: 26,472,955 (GRCm39) |
V333F |
probably damaging |
Het |
Ptgfr |
T |
C |
3: 151,540,926 (GRCm39) |
E194G |
probably benign |
Het |
Ptpn14 |
C |
T |
1: 189,582,997 (GRCm39) |
P615S |
probably damaging |
Het |
Pyroxd1 |
T |
C |
6: 142,300,479 (GRCm39) |
I203T |
probably benign |
Het |
Rgs22 |
T |
C |
15: 36,087,520 (GRCm39) |
N466S |
probably benign |
Het |
Rpl3l |
G |
A |
17: 24,952,966 (GRCm39) |
V309I |
probably benign |
Het |
Rtkn2 |
C |
T |
10: 67,815,529 (GRCm39) |
|
probably benign |
Het |
Sec16a |
C |
T |
2: 26,318,253 (GRCm39) |
A1613T |
probably damaging |
Het |
Sis |
T |
A |
3: 72,874,103 (GRCm39) |
T33S |
probably damaging |
Het |
Slc22a4 |
C |
A |
11: 53,898,634 (GRCm39) |
V153F |
possibly damaging |
Het |
Stxbp1 |
C |
G |
2: 32,684,621 (GRCm39) |
E603Q |
probably damaging |
Het |
Tiam2 |
A |
G |
17: 3,559,831 (GRCm39) |
S1291G |
probably damaging |
Het |
Ttn |
G |
A |
2: 76,579,673 (GRCm39) |
T23740M |
probably damaging |
Het |
Vmn1r201 |
T |
C |
13: 22,659,533 (GRCm39) |
V249A |
probably benign |
Het |
Wdr7 |
T |
A |
18: 63,888,182 (GRCm39) |
C552S |
probably damaging |
Het |
|
Other mutations in Tmem94 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00885:Tmem94
|
APN |
11 |
115,686,154 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01086:Tmem94
|
APN |
11 |
115,681,110 (GRCm39) |
missense |
probably benign |
0.25 |
IGL01314:Tmem94
|
APN |
11 |
115,680,835 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02123:Tmem94
|
APN |
11 |
115,678,364 (GRCm39) |
missense |
possibly damaging |
0.51 |
IGL02355:Tmem94
|
APN |
11 |
115,685,571 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02362:Tmem94
|
APN |
11 |
115,685,571 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02366:Tmem94
|
APN |
11 |
115,688,258 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02450:Tmem94
|
APN |
11 |
115,683,897 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02623:Tmem94
|
APN |
11 |
115,687,227 (GRCm39) |
nonsense |
probably null |
|
IGL02816:Tmem94
|
APN |
11 |
115,679,530 (GRCm39) |
splice site |
probably null |
|
IGL02836:Tmem94
|
APN |
11 |
115,683,765 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03061:Tmem94
|
APN |
11 |
115,683,247 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL03109:Tmem94
|
APN |
11 |
115,683,224 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03255:Tmem94
|
APN |
11 |
115,682,894 (GRCm39) |
unclassified |
probably benign |
|
IGL03397:Tmem94
|
APN |
11 |
115,678,394 (GRCm39) |
unclassified |
probably benign |
|
capitulate
|
UTSW |
11 |
115,687,572 (GRCm39) |
missense |
probably damaging |
1.00 |
R0083:Tmem94
|
UTSW |
11 |
115,687,550 (GRCm39) |
unclassified |
probably benign |
|
R0336:Tmem94
|
UTSW |
11 |
115,678,211 (GRCm39) |
missense |
probably benign |
|
R0370:Tmem94
|
UTSW |
11 |
115,679,543 (GRCm39) |
missense |
probably damaging |
1.00 |
R0494:Tmem94
|
UTSW |
11 |
115,685,607 (GRCm39) |
splice site |
probably null |
|
R0638:Tmem94
|
UTSW |
11 |
115,682,886 (GRCm39) |
splice site |
probably null |
|
R0647:Tmem94
|
UTSW |
11 |
115,687,621 (GRCm39) |
missense |
probably damaging |
1.00 |
R0900:Tmem94
|
UTSW |
11 |
115,682,804 (GRCm39) |
missense |
probably benign |
0.00 |
R1469:Tmem94
|
UTSW |
11 |
115,685,917 (GRCm39) |
unclassified |
probably benign |
|
R1616:Tmem94
|
UTSW |
11 |
115,686,971 (GRCm39) |
critical splice donor site |
probably null |
|
R1621:Tmem94
|
UTSW |
11 |
115,676,671 (GRCm39) |
missense |
probably benign |
|
R1682:Tmem94
|
UTSW |
11 |
115,681,056 (GRCm39) |
missense |
probably damaging |
1.00 |
R1723:Tmem94
|
UTSW |
11 |
115,685,574 (GRCm39) |
missense |
probably damaging |
1.00 |
R1760:Tmem94
|
UTSW |
11 |
115,687,580 (GRCm39) |
missense |
probably damaging |
1.00 |
R1826:Tmem94
|
UTSW |
11 |
115,684,039 (GRCm39) |
nonsense |
probably null |
|
R1926:Tmem94
|
UTSW |
11 |
115,683,726 (GRCm39) |
missense |
possibly damaging |
0.67 |
R1956:Tmem94
|
UTSW |
11 |
115,679,500 (GRCm39) |
missense |
possibly damaging |
0.75 |
R2033:Tmem94
|
UTSW |
11 |
115,685,154 (GRCm39) |
missense |
possibly damaging |
0.65 |
R2135:Tmem94
|
UTSW |
11 |
115,685,575 (GRCm39) |
missense |
probably benign |
|
R2419:Tmem94
|
UTSW |
11 |
115,687,641 (GRCm39) |
missense |
probably damaging |
1.00 |
R2511:Tmem94
|
UTSW |
11 |
115,682,787 (GRCm39) |
missense |
probably damaging |
1.00 |
R3932:Tmem94
|
UTSW |
11 |
115,680,080 (GRCm39) |
missense |
probably benign |
0.00 |
R4708:Tmem94
|
UTSW |
11 |
115,677,121 (GRCm39) |
missense |
possibly damaging |
0.87 |
R4812:Tmem94
|
UTSW |
11 |
115,686,938 (GRCm39) |
nonsense |
probably null |
|
R5026:Tmem94
|
UTSW |
11 |
115,683,930 (GRCm39) |
missense |
probably damaging |
1.00 |
R5714:Tmem94
|
UTSW |
11 |
115,684,016 (GRCm39) |
missense |
probably benign |
0.04 |
R5716:Tmem94
|
UTSW |
11 |
115,683,254 (GRCm39) |
missense |
probably benign |
0.17 |
R6180:Tmem94
|
UTSW |
11 |
115,681,857 (GRCm39) |
critical splice acceptor site |
probably null |
|
R6594:Tmem94
|
UTSW |
11 |
115,689,112 (GRCm39) |
missense |
probably damaging |
1.00 |
R6696:Tmem94
|
UTSW |
11 |
115,682,814 (GRCm39) |
missense |
probably damaging |
1.00 |
R6883:Tmem94
|
UTSW |
11 |
115,687,287 (GRCm39) |
missense |
probably damaging |
1.00 |
R6939:Tmem94
|
UTSW |
11 |
115,676,656 (GRCm39) |
missense |
possibly damaging |
0.47 |
R7060:Tmem94
|
UTSW |
11 |
115,683,764 (GRCm39) |
missense |
probably damaging |
1.00 |
R7171:Tmem94
|
UTSW |
11 |
115,681,781 (GRCm39) |
splice site |
probably null |
|
R7181:Tmem94
|
UTSW |
11 |
115,685,600 (GRCm39) |
missense |
probably damaging |
0.97 |
R7290:Tmem94
|
UTSW |
11 |
115,677,082 (GRCm39) |
missense |
possibly damaging |
0.54 |
R7292:Tmem94
|
UTSW |
11 |
115,677,082 (GRCm39) |
missense |
possibly damaging |
0.54 |
R7345:Tmem94
|
UTSW |
11 |
115,677,082 (GRCm39) |
missense |
possibly damaging |
0.54 |
R7346:Tmem94
|
UTSW |
11 |
115,677,082 (GRCm39) |
missense |
possibly damaging |
0.54 |
R7378:Tmem94
|
UTSW |
11 |
115,685,000 (GRCm39) |
missense |
probably damaging |
1.00 |
R7380:Tmem94
|
UTSW |
11 |
115,686,971 (GRCm39) |
critical splice donor site |
probably null |
|
R7460:Tmem94
|
UTSW |
11 |
115,677,082 (GRCm39) |
missense |
possibly damaging |
0.54 |
R7461:Tmem94
|
UTSW |
11 |
115,677,082 (GRCm39) |
missense |
possibly damaging |
0.54 |
R7463:Tmem94
|
UTSW |
11 |
115,677,082 (GRCm39) |
missense |
possibly damaging |
0.54 |
R7464:Tmem94
|
UTSW |
11 |
115,677,082 (GRCm39) |
missense |
possibly damaging |
0.54 |
R7465:Tmem94
|
UTSW |
11 |
115,677,082 (GRCm39) |
missense |
possibly damaging |
0.54 |
R7673:Tmem94
|
UTSW |
11 |
115,679,204 (GRCm39) |
missense |
probably benign |
0.05 |
R7995:Tmem94
|
UTSW |
11 |
115,688,797 (GRCm39) |
missense |
probably damaging |
1.00 |
R8094:Tmem94
|
UTSW |
11 |
115,679,218 (GRCm39) |
critical splice donor site |
probably null |
|
R8447:Tmem94
|
UTSW |
11 |
115,688,696 (GRCm39) |
missense |
probably benign |
|
R8447:Tmem94
|
UTSW |
11 |
115,688,023 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8825:Tmem94
|
UTSW |
11 |
115,688,201 (GRCm39) |
missense |
probably benign |
0.00 |
R8910:Tmem94
|
UTSW |
11 |
115,688,252 (GRCm39) |
missense |
probably damaging |
1.00 |
R9226:Tmem94
|
UTSW |
11 |
115,683,191 (GRCm39) |
missense |
probably damaging |
1.00 |
RF003:Tmem94
|
UTSW |
11 |
115,686,958 (GRCm39) |
missense |
probably damaging |
1.00 |
X0024:Tmem94
|
UTSW |
11 |
115,677,079 (GRCm39) |
missense |
probably benign |
0.34 |
|
Predicted Primers |
PCR Primer
(F):5'- TTACCCTCTGCTCAGGTGAGAG -3'
(R):5'- AATGTTTAGCAAGCCCTCAGC -3'
Sequencing Primer
(F):5'- CTCTGTGCCCTGCTAGTGAG -3'
(R):5'- TCAGCAGGTAAGTGCCCAC -3'
|
Posted On |
2018-04-02 |