Incidental Mutation 'R8447:Tmem94'
ID |
654566 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmem94
|
Ensembl Gene |
ENSMUSG00000020747 |
Gene Name |
transmembrane protein 94 |
Synonyms |
2310067B10Rik |
MMRRC Submission |
067902-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.276)
|
Stock # |
R8447 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
115656245-115689859 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 115688023 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Phenylalanine
at position 1190
(C1190F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000091440
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041684]
[ENSMUST00000093912]
[ENSMUST00000103033]
|
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: C1190F
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000091440 Gene: ENSMUSG00000020747 AA Change: C1190F
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: C1190F
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000099322 Gene: ENSMUSG00000020747 AA Change: C1190F
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb4 |
A |
C |
5: 8,957,278 (GRCm39) |
T136P |
probably damaging |
Het |
Abcc3 |
A |
T |
11: 94,254,886 (GRCm39) |
L639Q |
possibly damaging |
Het |
Adam10 |
T |
A |
9: 70,655,400 (GRCm39) |
N289K |
probably damaging |
Het |
Akap12 |
A |
G |
10: 4,306,289 (GRCm39) |
E1138G |
probably benign |
Het |
Akr1e1 |
C |
A |
13: 4,648,793 (GRCm39) |
L167F |
probably damaging |
Het |
Cars1 |
T |
C |
7: 143,123,766 (GRCm39) |
K506E |
possibly damaging |
Het |
Castor1 |
T |
C |
11: 4,170,165 (GRCm39) |
V81A |
probably damaging |
Het |
Cfap46 |
C |
A |
7: 139,260,902 (GRCm39) |
R65S |
possibly damaging |
Het |
Cfap57 |
C |
T |
4: 118,472,128 (GRCm39) |
V84I |
probably benign |
Het |
Clec16a |
C |
A |
16: 10,559,487 (GRCm39) |
T920K |
probably benign |
Het |
Coro2b |
C |
T |
9: 62,333,842 (GRCm39) |
E351K |
probably damaging |
Het |
Diablo |
T |
C |
5: 123,655,829 (GRCm39) |
E163G |
probably damaging |
Het |
Dnah6 |
A |
G |
6: 73,115,757 (GRCm39) |
L1547P |
probably damaging |
Het |
Dynll2 |
G |
T |
11: 87,874,719 (GRCm39) |
D37E |
probably benign |
Het |
Eml4 |
A |
T |
17: 83,755,656 (GRCm39) |
Q408L |
probably damaging |
Het |
F2rl3 |
T |
C |
8: 73,489,963 (GRCm39) |
*397R |
probably null |
Het |
Fance |
T |
A |
17: 28,545,155 (GRCm39) |
L127Q |
unknown |
Het |
Fat4 |
T |
C |
3: 39,033,824 (GRCm39) |
V2492A |
possibly damaging |
Het |
Ggta1 |
C |
T |
2: 35,292,573 (GRCm39) |
D245N |
probably damaging |
Het |
Gli1 |
T |
C |
10: 127,166,106 (GRCm39) |
N1049S |
probably benign |
Het |
Grin2c |
A |
G |
11: 115,148,215 (GRCm39) |
V354A |
probably benign |
Het |
Kank4 |
T |
A |
4: 98,666,729 (GRCm39) |
I573F |
probably damaging |
Het |
Kdm3a |
A |
G |
6: 71,588,881 (GRCm39) |
V376A |
probably benign |
Het |
Kndc1 |
T |
C |
7: 139,481,121 (GRCm39) |
V69A |
probably damaging |
Het |
Lcmt1 |
T |
A |
7: 123,020,825 (GRCm39) |
L250Q |
probably damaging |
Het |
Ldhb |
A |
T |
6: 142,444,356 (GRCm39) |
V99D |
probably damaging |
Het |
Lepr |
T |
C |
4: 101,671,688 (GRCm39) |
V904A |
probably benign |
Het |
Lipe |
G |
T |
7: 25,080,017 (GRCm39) |
N710K |
probably damaging |
Het |
Med1 |
C |
A |
11: 98,060,240 (GRCm39) |
D230Y |
probably damaging |
Het |
Mpv17l |
T |
A |
16: 13,758,864 (GRCm39) |
I96K |
probably benign |
Het |
Obox1 |
A |
T |
7: 15,289,541 (GRCm39) |
Q110L |
probably damaging |
Het |
Or11h6 |
T |
C |
14: 50,880,008 (GRCm39) |
V84A |
probably benign |
Het |
Or4f4b |
T |
A |
2: 111,314,101 (GRCm39) |
Y137N |
probably damaging |
Het |
Or4k37 |
T |
A |
2: 111,159,307 (GRCm39) |
I181N |
possibly damaging |
Het |
Or5t16 |
T |
A |
2: 86,818,885 (GRCm39) |
I212F |
probably benign |
Het |
Or6c76 |
T |
G |
10: 129,612,371 (GRCm39) |
M211R |
possibly damaging |
Het |
Or9s14 |
C |
A |
1: 92,535,494 (GRCm39) |
|
probably benign |
Het |
Pah |
T |
C |
10: 87,417,827 (GRCm39) |
|
probably null |
Het |
Pate1 |
A |
T |
9: 35,597,631 (GRCm39) |
N40K |
probably benign |
Het |
Pclo |
C |
A |
5: 14,731,423 (GRCm39) |
D182E |
|
Het |
Prl7a2 |
A |
T |
13: 27,849,941 (GRCm39) |
S44T |
possibly damaging |
Het |
Pwp2 |
T |
A |
10: 78,007,873 (GRCm39) |
D894V |
probably benign |
Het |
Ripor2 |
T |
A |
13: 24,907,771 (GRCm39) |
L1014Q |
probably damaging |
Het |
Rpe |
G |
A |
1: 66,740,188 (GRCm39) |
|
probably null |
Het |
Sh2d3c |
A |
G |
2: 32,642,671 (GRCm39) |
T706A |
probably damaging |
Het |
Slc34a1 |
T |
C |
13: 24,006,309 (GRCm39) |
F445S |
possibly damaging |
Het |
Spata20 |
C |
A |
11: 94,373,080 (GRCm39) |
L515F |
probably damaging |
Het |
Tcf20 |
G |
A |
15: 82,737,437 (GRCm39) |
S1338F |
possibly damaging |
Het |
Tm9sf2 |
C |
A |
14: 122,377,180 (GRCm39) |
P236Q |
probably damaging |
Het |
Tmem135 |
T |
C |
7: 88,803,240 (GRCm39) |
Y311C |
probably damaging |
Het |
Tmem245 |
T |
C |
4: 56,906,261 (GRCm39) |
Q548R |
probably benign |
Het |
Zp3 |
G |
A |
5: 136,013,244 (GRCm39) |
G192E |
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 |
|
R6295:Tmem94
|
UTSW |
11 |
115,687,572 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
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'- CTGAGGGCTTGCTAAACATTTAG -3'
(R):5'- TGGCAAAATCCTCGAACCAGG -3'
Sequencing Primer
(F):5'- CATTTAGAAAAGCTGAGCAGGTGCC -3'
(R):5'- CTGTCATCATTGCTGCCAAAGGAAG -3'
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Posted On |
2020-10-20 |