Incidental Mutation 'R6215:Tmem116'
ID |
503655 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmem116
|
Ensembl Gene |
ENSMUSG00000029452 |
Gene Name |
transmembrane protein 116 |
Synonyms |
C030022K24Rik, 4930406A18Rik, 4930513P12Rik |
MMRRC Submission |
044348-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6215 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
121590643-121656601 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 121629171 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Methionine
at position 188
(T188M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000091917
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031405]
[ENSMUST00000060004]
[ENSMUST00000094357]
[ENSMUST00000111795]
[ENSMUST00000149966]
[ENSMUST00000156080]
|
AlphaFold |
G3X9M9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031405
AA Change: T153M
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000031405 Gene: ENSMUSG00000029452 AA Change: T153M
Domain | Start | End | E-Value | Type |
transmembrane domain
|
23 |
45 |
N/A |
INTRINSIC |
transmembrane domain
|
65 |
84 |
N/A |
INTRINSIC |
transmembrane domain
|
105 |
127 |
N/A |
INTRINSIC |
transmembrane domain
|
170 |
192 |
N/A |
INTRINSIC |
transmembrane domain
|
225 |
242 |
N/A |
INTRINSIC |
transmembrane domain
|
257 |
279 |
N/A |
INTRINSIC |
low complexity region
|
311 |
326 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000060004
AA Change: T33M
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000054232 Gene: ENSMUSG00000029452 AA Change: T33M
Domain | Start | End | E-Value | Type |
transmembrane domain
|
50 |
72 |
N/A |
INTRINSIC |
transmembrane domain
|
105 |
122 |
N/A |
INTRINSIC |
transmembrane domain
|
137 |
159 |
N/A |
INTRINSIC |
low complexity region
|
191 |
206 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000094357
AA Change: T188M
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000091917 Gene: ENSMUSG00000029452 AA Change: T188M
Domain | Start | End | E-Value | Type |
transmembrane domain
|
23 |
45 |
N/A |
INTRINSIC |
transmembrane domain
|
57 |
79 |
N/A |
INTRINSIC |
transmembrane domain
|
94 |
116 |
N/A |
INTRINSIC |
transmembrane domain
|
140 |
162 |
N/A |
INTRINSIC |
transmembrane domain
|
205 |
227 |
N/A |
INTRINSIC |
transmembrane domain
|
260 |
277 |
N/A |
INTRINSIC |
transmembrane domain
|
292 |
314 |
N/A |
INTRINSIC |
low complexity region
|
346 |
361 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000111795
AA Change: T33M
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000144614 Gene: ENSMUSG00000029452 AA Change: T33M
Domain | Start | End | E-Value | Type |
transmembrane domain
|
50 |
72 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000124247
|
SMART Domains |
Protein: ENSMUSP00000134334 Gene: ENSMUSG00000029452
Domain | Start | End | E-Value | Type |
transmembrane domain
|
50 |
72 |
N/A |
INTRINSIC |
transmembrane domain
|
103 |
125 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000149966
AA Change: T33M
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000116328 Gene: ENSMUSG00000029452 AA Change: T33M
Domain | Start | End | E-Value | Type |
transmembrane domain
|
50 |
72 |
N/A |
INTRINSIC |
transmembrane domain
|
105 |
123 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000150805
AA Change: T224M
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000156080
AA Change: T33M
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000121579 Gene: ENSMUSG00000029452 AA Change: T33M
Domain | Start | End | E-Value | Type |
transmembrane domain
|
23 |
45 |
N/A |
INTRINSIC |
transmembrane domain
|
57 |
79 |
N/A |
INTRINSIC |
transmembrane domain
|
94 |
116 |
N/A |
INTRINSIC |
transmembrane domain
|
140 |
162 |
N/A |
INTRINSIC |
transmembrane domain
|
205 |
227 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
Validation Efficiency |
95% (42/44) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrv1 |
C |
T |
13: 81,727,713 (GRCm39) |
W309* |
probably null |
Het |
Aox1 |
G |
A |
1: 58,124,620 (GRCm39) |
V954I |
probably benign |
Het |
Asnsd1 |
A |
C |
1: 53,387,187 (GRCm39) |
|
probably null |
Het |
Aste1 |
A |
G |
9: 105,274,056 (GRCm39) |
K38E |
probably damaging |
Het |
Catsperg1 |
A |
G |
7: 28,899,664 (GRCm39) |
V339A |
probably damaging |
Het |
Ccdc13 |
A |
G |
9: 121,627,975 (GRCm39) |
|
probably benign |
Het |
Cd79b |
C |
A |
11: 106,203,267 (GRCm39) |
|
probably null |
Het |
Cemip2 |
C |
A |
19: 21,789,751 (GRCm39) |
N650K |
probably benign |
Het |
Chd3 |
A |
G |
11: 69,247,380 (GRCm39) |
L981P |
probably damaging |
Het |
Chia1 |
T |
C |
3: 106,029,761 (GRCm39) |
F132L |
probably damaging |
Het |
Dhx9 |
G |
A |
1: 153,348,209 (GRCm39) |
P336S |
probably damaging |
Het |
Dido1 |
T |
C |
2: 180,303,945 (GRCm39) |
K1320E |
probably damaging |
Het |
Dmbt1 |
G |
T |
7: 130,668,463 (GRCm39) |
C573F |
possibly damaging |
Het |
Dmtn |
A |
G |
14: 70,850,776 (GRCm39) |
I205T |
probably benign |
Het |
Efnb3 |
C |
A |
11: 69,447,591 (GRCm39) |
V181L |
probably benign |
Het |
Flg2 |
G |
T |
3: 93,109,166 (GRCm39) |
C398F |
possibly damaging |
Het |
Gabbr1 |
A |
G |
17: 37,380,257 (GRCm39) |
D604G |
probably damaging |
Het |
Glis2 |
T |
A |
16: 4,428,197 (GRCm39) |
L83* |
probably null |
Het |
Gm10719 |
T |
A |
9: 3,019,040 (GRCm39) |
|
probably null |
Homo |
Hipk3 |
T |
C |
2: 104,264,086 (GRCm39) |
D804G |
probably damaging |
Het |
Kcnd1 |
G |
C |
X: 7,690,148 (GRCm39) |
A23P |
probably damaging |
Homo |
Kcnj13 |
A |
G |
1: 87,314,256 (GRCm39) |
V322A |
probably benign |
Het |
Nav3 |
A |
G |
10: 109,688,426 (GRCm39) |
L617P |
probably damaging |
Het |
Npc1 |
ACAGCAGCAGCAGCAGCAG |
ACAGCAGCAGCAGCAG |
18: 12,369,249 (GRCm39) |
|
probably benign |
Het |
Or8b3b |
A |
G |
9: 38,584,510 (GRCm39) |
S90P |
probably benign |
Het |
Osgin1 |
G |
A |
8: 120,172,183 (GRCm39) |
V326I |
probably benign |
Het |
Pcsk7 |
A |
C |
9: 45,821,674 (GRCm39) |
N156T |
possibly damaging |
Het |
Pde4d |
C |
T |
13: 110,085,967 (GRCm39) |
S515L |
probably damaging |
Het |
Peg10 |
GC |
GCCCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
Ppp2r5a |
T |
A |
1: 191,094,447 (GRCm39) |
Q191L |
probably benign |
Het |
Prom2 |
A |
G |
2: 127,381,695 (GRCm39) |
|
probably null |
Het |
Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
Sart3 |
C |
T |
5: 113,881,267 (GRCm39) |
A938T |
probably benign |
Het |
Scn3a |
T |
C |
2: 65,325,380 (GRCm39) |
I1046V |
probably benign |
Het |
Sh3glb2 |
T |
C |
2: 30,235,805 (GRCm39) |
E313G |
possibly damaging |
Het |
Slc13a1 |
A |
T |
6: 24,090,795 (GRCm39) |
Y541* |
probably null |
Het |
Smtnl2 |
G |
A |
11: 72,292,225 (GRCm39) |
A274V |
probably damaging |
Het |
Spata31h1 |
T |
A |
10: 82,126,946 (GRCm39) |
K2021N |
probably benign |
Het |
Speer1d |
C |
T |
5: 11,307,197 (GRCm39) |
T25I |
probably damaging |
Het |
Tm6sf2 |
T |
C |
8: 70,525,724 (GRCm39) |
V27A |
possibly damaging |
Het |
Trim21 |
A |
G |
7: 102,208,646 (GRCm39) |
S358P |
probably damaging |
Het |
Ttc21a |
A |
G |
9: 119,795,838 (GRCm39) |
Y1224C |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,710,552 (GRCm39) |
|
probably benign |
Het |
Vmn2r99 |
A |
G |
17: 19,602,820 (GRCm39) |
Q525R |
probably benign |
Het |
|
Other mutations in Tmem116 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01152:Tmem116
|
APN |
5 |
121,601,862 (GRCm39) |
missense |
probably benign |
0.05 |
IGL02711:Tmem116
|
APN |
5 |
121,625,804 (GRCm39) |
splice site |
probably benign |
|
R0008:Tmem116
|
UTSW |
5 |
121,633,159 (GRCm39) |
missense |
probably damaging |
1.00 |
R0131:Tmem116
|
UTSW |
5 |
121,631,845 (GRCm39) |
splice site |
probably benign |
|
R1163:Tmem116
|
UTSW |
5 |
121,631,819 (GRCm39) |
missense |
probably damaging |
1.00 |
R1490:Tmem116
|
UTSW |
5 |
121,633,174 (GRCm39) |
missense |
probably damaging |
1.00 |
R2019:Tmem116
|
UTSW |
5 |
121,627,317 (GRCm39) |
missense |
possibly damaging |
0.85 |
R6007:Tmem116
|
UTSW |
5 |
121,655,955 (GRCm39) |
makesense |
probably null |
|
R6216:Tmem116
|
UTSW |
5 |
121,629,171 (GRCm39) |
missense |
probably benign |
0.02 |
R6221:Tmem116
|
UTSW |
5 |
121,629,171 (GRCm39) |
missense |
probably benign |
0.02 |
R6222:Tmem116
|
UTSW |
5 |
121,629,171 (GRCm39) |
missense |
probably benign |
0.02 |
R6980:Tmem116
|
UTSW |
5 |
121,606,050 (GRCm39) |
critical splice donor site |
probably null |
|
R7055:Tmem116
|
UTSW |
5 |
121,605,987 (GRCm39) |
missense |
probably damaging |
1.00 |
R7248:Tmem116
|
UTSW |
5 |
121,601,899 (GRCm39) |
splice site |
probably null |
|
R7268:Tmem116
|
UTSW |
5 |
121,605,918 (GRCm39) |
missense |
|
|
R7485:Tmem116
|
UTSW |
5 |
121,633,124 (GRCm39) |
missense |
|
|
R7655:Tmem116
|
UTSW |
5 |
121,590,252 (GRCm39) |
critical splice donor site |
probably null |
|
R7656:Tmem116
|
UTSW |
5 |
121,590,252 (GRCm39) |
critical splice donor site |
probably null |
|
R8737:Tmem116
|
UTSW |
5 |
121,620,433 (GRCm39) |
missense |
|
|
R9084:Tmem116
|
UTSW |
5 |
121,627,387 (GRCm39) |
missense |
|
|
R9168:Tmem116
|
UTSW |
5 |
121,605,975 (GRCm39) |
missense |
|
|
X0024:Tmem116
|
UTSW |
5 |
121,620,457 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Predicted Primers |
|
Posted On |
2018-02-27 |