Incidental Mutation 'R2135:Tmem94'
ID |
235735 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmem94
|
Ensembl Gene |
ENSMUSG00000020747 |
Gene Name |
transmembrane protein 94 |
Synonyms |
2310067B10Rik |
MMRRC Submission |
040138-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.276)
|
Stock # |
R2135 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
115656245-115689859 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 115685575 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 943
(I943V)
|
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 |
probably benign
Transcript: ENSMUST00000093912
AA Change: I943V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000091440 Gene: ENSMUSG00000020747 AA Change: I943V
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 benign
Transcript: ENSMUST00000103033
AA Change: I943V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000099322 Gene: ENSMUSG00000020747 AA Change: I943V
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 |
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 |
0.0581 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.6%
|
Validation Efficiency |
100% (70/70) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930522L14Rik |
A |
T |
5: 109,885,509 (GRCm39) |
H116Q |
probably benign |
Het |
Adamts16 |
C |
A |
13: 70,949,126 (GRCm39) |
L178F |
probably damaging |
Het |
Adgrv1 |
A |
G |
13: 81,672,676 (GRCm39) |
|
probably null |
Het |
Akap9 |
A |
G |
5: 4,114,509 (GRCm39) |
T46A |
probably damaging |
Het |
Ankrd2 |
T |
C |
19: 42,032,498 (GRCm39) |
L253P |
probably damaging |
Het |
Arap3 |
T |
C |
18: 38,107,509 (GRCm39) |
D1336G |
probably damaging |
Het |
Cacna2d2 |
C |
A |
9: 107,403,712 (GRCm39) |
L992I |
possibly damaging |
Het |
Cdhr2 |
T |
A |
13: 54,868,760 (GRCm39) |
I574N |
probably damaging |
Het |
Cecr2 |
C |
T |
6: 120,697,923 (GRCm39) |
T74M |
probably damaging |
Het |
Ces5a |
C |
A |
8: 94,226,369 (GRCm39) |
E481D |
probably benign |
Het |
Cfap74 |
C |
G |
4: 155,514,397 (GRCm39) |
N544K |
probably damaging |
Het |
Cfap74 |
T |
A |
4: 155,514,408 (GRCm39) |
L548Q |
probably damaging |
Het |
Cfb |
C |
T |
17: 35,076,254 (GRCm39) |
V1145I |
possibly damaging |
Het |
CK137956 |
A |
G |
4: 127,845,433 (GRCm39) |
|
probably benign |
Het |
Commd10 |
T |
A |
18: 47,123,604 (GRCm39) |
L153Q |
possibly damaging |
Het |
Cox6c |
T |
C |
15: 35,937,429 (GRCm39) |
|
probably benign |
Het |
Dock4 |
A |
G |
12: 40,795,667 (GRCm39) |
Y828C |
probably benign |
Het |
Ermp1 |
T |
C |
19: 29,623,465 (GRCm39) |
D119G |
possibly damaging |
Het |
Ext1 |
G |
T |
15: 52,965,140 (GRCm39) |
Q409K |
possibly damaging |
Het |
Fat4 |
A |
T |
3: 39,034,882 (GRCm39) |
I2845F |
probably damaging |
Het |
Frmd6 |
A |
G |
12: 70,941,771 (GRCm39) |
N494S |
probably benign |
Het |
Fscn3 |
A |
G |
6: 28,431,583 (GRCm39) |
T305A |
probably benign |
Het |
Gbx1 |
G |
T |
5: 24,731,220 (GRCm39) |
R199S |
possibly damaging |
Het |
Gm11437 |
T |
C |
11: 84,044,638 (GRCm39) |
R192G |
probably damaging |
Het |
Gucy2c |
T |
A |
6: 136,700,726 (GRCm39) |
D572V |
probably damaging |
Het |
Idh1 |
A |
C |
1: 65,201,078 (GRCm39) |
M291R |
probably damaging |
Het |
Kcnt2 |
A |
G |
1: 140,356,551 (GRCm39) |
Y330C |
probably damaging |
Het |
Kdm4a |
A |
G |
4: 117,999,656 (GRCm39) |
L922P |
probably damaging |
Het |
L3mbtl2 |
A |
G |
15: 81,566,215 (GRCm39) |
D346G |
possibly damaging |
Het |
Lsm14a |
A |
G |
7: 34,070,609 (GRCm39) |
S96P |
probably damaging |
Het |
Ltn1 |
A |
G |
16: 87,179,601 (GRCm39) |
L1520P |
probably damaging |
Het |
Marchf6 |
A |
T |
15: 31,509,910 (GRCm39) |
C26* |
probably null |
Het |
Msra |
G |
A |
14: 64,360,657 (GRCm39) |
P228L |
probably damaging |
Het |
Mycbp2 |
T |
C |
14: 103,446,329 (GRCm39) |
Y1800C |
probably damaging |
Het |
Mycbp2 |
A |
T |
14: 103,383,378 (GRCm39) |
D395E |
probably benign |
Het |
Ncr1 |
C |
A |
7: 4,343,756 (GRCm39) |
|
probably benign |
Het |
Nkd1 |
T |
C |
8: 89,318,278 (GRCm39) |
I201T |
probably benign |
Het |
Nsrp1 |
A |
T |
11: 76,945,834 (GRCm39) |
|
probably benign |
Het |
Or2t48 |
A |
C |
11: 58,420,611 (GRCm39) |
I67S |
probably damaging |
Het |
Or7e177 |
T |
A |
9: 20,211,593 (GRCm39) |
D32E |
probably benign |
Het |
Pate5 |
A |
C |
9: 35,750,479 (GRCm39) |
|
probably null |
Het |
Pkdrej |
T |
C |
15: 85,700,707 (GRCm39) |
Y1743C |
probably damaging |
Het |
Plekha5 |
T |
A |
6: 140,526,225 (GRCm39) |
H281Q |
possibly damaging |
Het |
Ppp2r3d |
A |
C |
9: 101,088,757 (GRCm39) |
M522R |
probably damaging |
Het |
Prdm12 |
T |
C |
2: 31,530,325 (GRCm39) |
F72S |
possibly damaging |
Het |
Prima1 |
A |
T |
12: 103,168,949 (GRCm39) |
F106L |
probably damaging |
Het |
Ptchd4 |
A |
G |
17: 42,627,965 (GRCm39) |
H142R |
probably benign |
Het |
Rasgrf2 |
G |
A |
13: 92,120,374 (GRCm39) |
A793V |
probably benign |
Het |
Rbsn |
T |
A |
6: 92,166,854 (GRCm39) |
M597L |
probably benign |
Het |
Ripk4 |
A |
T |
16: 97,544,933 (GRCm39) |
D571E |
probably damaging |
Het |
Rp9 |
T |
C |
9: 22,379,425 (GRCm39) |
K25E |
possibly damaging |
Het |
Sec31b |
T |
C |
19: 44,523,135 (GRCm39) |
S211G |
probably damaging |
Het |
Shank2 |
C |
T |
7: 143,964,971 (GRCm39) |
P1070S |
probably damaging |
Het |
Sla |
A |
G |
15: 66,654,563 (GRCm39) |
V241A |
probably benign |
Het |
Slc25a40 |
A |
G |
5: 8,477,489 (GRCm39) |
T25A |
possibly damaging |
Het |
Slc3a2 |
A |
G |
19: 8,685,608 (GRCm39) |
S164P |
probably benign |
Het |
Slc7a5 |
A |
T |
8: 122,610,444 (GRCm39) |
W457R |
probably null |
Het |
Slco6c1 |
A |
G |
1: 97,032,542 (GRCm39) |
M303T |
probably benign |
Het |
Smim10l1 |
T |
C |
6: 133,082,489 (GRCm39) |
F12S |
probably damaging |
Het |
Syne2 |
A |
G |
12: 75,999,560 (GRCm39) |
I2318V |
probably damaging |
Het |
Tecta |
A |
C |
9: 42,251,581 (GRCm39) |
C1781G |
probably damaging |
Het |
Timmdc1 |
A |
T |
16: 38,319,313 (GRCm39) |
H280Q |
probably benign |
Het |
Tktl2 |
G |
A |
8: 66,964,999 (GRCm39) |
V186M |
probably damaging |
Het |
Tmem30b |
A |
G |
12: 73,592,107 (GRCm39) |
L336P |
probably damaging |
Het |
Tshb |
A |
G |
3: 102,685,464 (GRCm39) |
|
probably null |
Het |
Vcpip1 |
A |
G |
1: 9,818,035 (GRCm39) |
V116A |
probably benign |
Het |
Vmn2r76 |
A |
G |
7: 85,880,219 (GRCm39) |
Y156H |
probably benign |
Het |
Zcrb1 |
T |
C |
15: 93,295,067 (GRCm39) |
N23S |
probably damaging |
Het |
Zfyve26 |
T |
C |
12: 79,292,826 (GRCm39) |
R2108G |
possibly 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 |
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 |
|
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'- AGGCTGTGTACCGTTTGCAG -3'
(R):5'- CCAGCAACGGTACATTGTCG -3'
Sequencing Primer
(F):5'- ACCGTTTGCAGGGCATG -3'
(R):5'- CAGCAACGGTACATTGTCGATGTTC -3'
|
Posted On |
2014-10-01 |