Incidental Mutation 'IGL03093:Tmem245'
| ID |
418458 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tmem245
|
| Ensembl Gene |
ENSMUSG00000055296 |
| Gene Name |
transmembrane protein 245 |
| Synonyms |
D730040F13Rik, A630051L19Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.298)
|
| Stock # |
IGL03093
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
56866923-56947437 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 56886019 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 866
(R866W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103234
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068792]
[ENSMUST00000107609]
[ENSMUST00000132816]
|
| AlphaFold |
B1AZA5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000068792
AA Change: R862W
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000067421
Gene: ENSMUSG00000055296
AA Change: R862W
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
25 |
N/A |
INTRINSIC |
|
transmembrane domain
|
50 |
72 |
N/A |
INTRINSIC |
|
transmembrane domain
|
109 |
131 |
N/A |
INTRINSIC |
|
transmembrane domain
|
144 |
166 |
N/A |
INTRINSIC |
|
transmembrane domain
|
181 |
203 |
N/A |
INTRINSIC |
|
transmembrane domain
|
212 |
231 |
N/A |
INTRINSIC |
|
transmembrane domain
|
235 |
252 |
N/A |
INTRINSIC |
|
low complexity region
|
309 |
330 |
N/A |
INTRINSIC |
|
transmembrane domain
|
351 |
373 |
N/A |
INTRINSIC |
|
transmembrane domain
|
457 |
479 |
N/A |
INTRINSIC |
|
Pfam:UPF0118
|
589 |
838 |
1.7e-14 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107609
AA Change: R866W
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000103234
Gene: ENSMUSG00000055296
AA Change: R866W
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
25 |
N/A |
INTRINSIC |
|
transmembrane domain
|
50 |
72 |
N/A |
INTRINSIC |
|
transmembrane domain
|
109 |
131 |
N/A |
INTRINSIC |
|
transmembrane domain
|
144 |
166 |
N/A |
INTRINSIC |
|
transmembrane domain
|
181 |
203 |
N/A |
INTRINSIC |
|
transmembrane domain
|
212 |
231 |
N/A |
INTRINSIC |
|
transmembrane domain
|
235 |
252 |
N/A |
INTRINSIC |
|
low complexity region
|
309 |
330 |
N/A |
INTRINSIC |
|
transmembrane domain
|
351 |
373 |
N/A |
INTRINSIC |
|
transmembrane domain
|
449 |
471 |
N/A |
INTRINSIC |
|
Pfam:UPF0118
|
585 |
842 |
1.1e-12 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125082
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000132816
AA Change: R457W
PolyPhen 2
Score 0.846 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000117449
Gene: ENSMUSG00000055296
AA Change: R457W
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
52 |
74 |
N/A |
INTRINSIC |
|
Pfam:UPF0118
|
182 |
433 |
4.5e-14 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155625
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Add3 |
A |
G |
19: 53,219,638 (GRCm39) |
D121G |
probably damaging |
Het |
| Cacna1s |
A |
G |
1: 136,043,802 (GRCm39) |
D1380G |
probably benign |
Het |
| Clca3a1 |
T |
C |
3: 144,453,262 (GRCm39) |
Y487C |
probably damaging |
Het |
| Coro2a |
A |
G |
4: 46,544,158 (GRCm39) |
S278P |
possibly damaging |
Het |
| Creb3l3 |
A |
G |
10: 80,927,047 (GRCm39) |
S128P |
probably benign |
Het |
| Dab2 |
A |
G |
15: 6,465,892 (GRCm39) |
R697G |
probably damaging |
Het |
| Erap1 |
T |
C |
13: 74,823,399 (GRCm39) |
F811S |
probably benign |
Het |
| Fam170b |
A |
G |
14: 32,557,482 (GRCm39) |
S106G |
probably damaging |
Het |
| Galk2 |
T |
C |
2: 125,771,563 (GRCm39) |
L196P |
probably damaging |
Het |
| Gan |
T |
C |
8: 117,910,314 (GRCm39) |
M81T |
probably benign |
Het |
| Gemin2 |
A |
G |
12: 59,068,511 (GRCm39) |
T197A |
probably benign |
Het |
| Hemgn |
A |
T |
4: 46,396,504 (GRCm39) |
M244K |
probably benign |
Het |
| Htr6 |
A |
G |
4: 138,789,080 (GRCm39) |
F325S |
probably damaging |
Het |
| Igkv9-120 |
A |
G |
6: 68,027,398 (GRCm39) |
D104G |
probably damaging |
Het |
| Itpr2 |
A |
C |
6: 146,281,008 (GRCm39) |
I216S |
probably damaging |
Het |
| Lingo1 |
T |
C |
9: 56,526,748 (GRCm39) |
I614V |
possibly damaging |
Het |
| Mep1b |
C |
T |
18: 21,226,710 (GRCm39) |
T524M |
probably benign |
Het |
| Mtif2 |
A |
G |
11: 29,480,702 (GRCm39) |
|
probably benign |
Het |
| Mylk |
G |
A |
16: 34,732,562 (GRCm39) |
R614H |
possibly damaging |
Het |
| Or2ag2 |
T |
C |
7: 106,485,410 (GRCm39) |
T205A |
probably benign |
Het |
| Or52s19 |
T |
C |
7: 103,007,446 (GRCm39) |
|
probably benign |
Het |
| Pabpc4 |
G |
A |
4: 123,180,502 (GRCm39) |
D75N |
probably damaging |
Het |
| Paics |
T |
A |
5: 77,109,355 (GRCm39) |
|
probably null |
Het |
| Prl |
T |
A |
13: 27,248,870 (GRCm39) |
I172N |
probably benign |
Het |
| Ripk2 |
A |
G |
4: 16,152,056 (GRCm39) |
S168P |
probably damaging |
Het |
| Siglecf |
T |
C |
7: 43,001,865 (GRCm39) |
V225A |
probably damaging |
Het |
| Slc36a1 |
A |
G |
11: 55,110,430 (GRCm39) |
I86V |
probably benign |
Het |
| Slc6a13 |
A |
G |
6: 121,309,407 (GRCm39) |
Y306C |
probably damaging |
Het |
| Soat2 |
T |
A |
15: 102,066,078 (GRCm39) |
L250Q |
probably damaging |
Het |
| Tex38 |
A |
G |
4: 115,637,762 (GRCm39) |
S14P |
probably damaging |
Het |
| Tm2d1 |
A |
T |
4: 98,268,921 (GRCm39) |
C59S |
possibly damaging |
Het |
| Tmco1 |
A |
G |
1: 167,143,848 (GRCm39) |
D82G |
probably damaging |
Het |
| Tnip1 |
G |
T |
11: 54,831,652 (GRCm39) |
Y7* |
probably null |
Het |
| Trp73 |
A |
G |
4: 154,189,330 (GRCm39) |
M48T |
probably benign |
Het |
| Tslp |
T |
C |
18: 32,948,612 (GRCm39) |
|
probably benign |
Het |
| Usp47 |
T |
C |
7: 111,688,827 (GRCm39) |
F745L |
probably damaging |
Het |
| Vmn2r53 |
T |
A |
7: 12,334,791 (GRCm39) |
T290S |
probably benign |
Het |
| Wdr1 |
T |
C |
5: 38,718,472 (GRCm39) |
D30G |
probably benign |
Het |
| Zkscan2 |
T |
C |
7: 123,094,073 (GRCm39) |
Y247C |
probably benign |
Het |
|
| Other mutations in Tmem245 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02472:Tmem245
|
APN |
4 |
56,899,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02668:Tmem245
|
APN |
4 |
56,925,081 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
Integral
|
UTSW |
4 |
56,899,170 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
leibniz
|
UTSW |
4 |
56,916,770 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0090:Tmem245
|
UTSW |
4 |
56,899,410 (GRCm39) |
missense |
probably benign |
|
|
R0116:Tmem245
|
UTSW |
4 |
56,926,213 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0648:Tmem245
|
UTSW |
4 |
56,906,270 (GRCm39) |
missense |
probably benign |
0.38 |
|
R0864:Tmem245
|
UTSW |
4 |
56,890,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1102:Tmem245
|
UTSW |
4 |
56,903,200 (GRCm39) |
intron |
probably benign |
|
|
R1548:Tmem245
|
UTSW |
4 |
56,906,233 (GRCm39) |
nonsense |
probably null |
|
|
R1778:Tmem245
|
UTSW |
4 |
56,903,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1840:Tmem245
|
UTSW |
4 |
56,903,947 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1942:Tmem245
|
UTSW |
4 |
56,923,511 (GRCm39) |
unclassified |
probably benign |
|
|
R1969:Tmem245
|
UTSW |
4 |
56,937,964 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2341:Tmem245
|
UTSW |
4 |
56,937,957 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2364:Tmem245
|
UTSW |
4 |
56,899,391 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3848:Tmem245
|
UTSW |
4 |
56,926,298 (GRCm39) |
unclassified |
probably benign |
|
|
R4591:Tmem245
|
UTSW |
4 |
56,910,204 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4772:Tmem245
|
UTSW |
4 |
56,937,989 (GRCm39) |
splice site |
probably null |
|
|
R4779:Tmem245
|
UTSW |
4 |
56,936,468 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R4860:Tmem245
|
UTSW |
4 |
56,899,164 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4860:Tmem245
|
UTSW |
4 |
56,899,164 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5049:Tmem245
|
UTSW |
4 |
56,925,057 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5061:Tmem245
|
UTSW |
4 |
56,946,945 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5199:Tmem245
|
UTSW |
4 |
56,925,149 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5377:Tmem245
|
UTSW |
4 |
56,947,084 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5547:Tmem245
|
UTSW |
4 |
56,910,156 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5846:Tmem245
|
UTSW |
4 |
56,903,241 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5851:Tmem245
|
UTSW |
4 |
56,916,770 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5991:Tmem245
|
UTSW |
4 |
56,916,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6314:Tmem245
|
UTSW |
4 |
56,888,592 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6992:Tmem245
|
UTSW |
4 |
56,937,940 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7172:Tmem245
|
UTSW |
4 |
56,903,946 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7632:Tmem245
|
UTSW |
4 |
56,916,787 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7660:Tmem245
|
UTSW |
4 |
56,899,170 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7672:Tmem245
|
UTSW |
4 |
56,947,069 (GRCm39) |
missense |
probably benign |
|
|
R7735:Tmem245
|
UTSW |
4 |
56,925,155 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7900:Tmem245
|
UTSW |
4 |
56,924,973 (GRCm39) |
splice site |
probably null |
|
|
R8280:Tmem245
|
UTSW |
4 |
56,890,884 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8306:Tmem245
|
UTSW |
4 |
56,886,037 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8446:Tmem245
|
UTSW |
4 |
56,906,261 (GRCm39) |
missense |
probably benign |
0.24 |
|
R8447:Tmem245
|
UTSW |
4 |
56,906,261 (GRCm39) |
missense |
probably benign |
0.24 |
|
R8491:Tmem245
|
UTSW |
4 |
56,906,261 (GRCm39) |
missense |
probably benign |
0.24 |
|
R8524:Tmem245
|
UTSW |
4 |
56,906,261 (GRCm39) |
missense |
probably benign |
0.24 |
|
R8750:Tmem245
|
UTSW |
4 |
56,886,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8756:Tmem245
|
UTSW |
4 |
56,899,025 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8899:Tmem245
|
UTSW |
4 |
56,903,916 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9035:Tmem245
|
UTSW |
4 |
56,922,384 (GRCm39) |
intron |
probably benign |
|
|
R9267:Tmem245
|
UTSW |
4 |
56,947,236 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9292:Tmem245
|
UTSW |
4 |
56,926,173 (GRCm39) |
unclassified |
probably benign |
|
|
R9292:Tmem245
|
UTSW |
4 |
56,937,979 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9667:Tmem245
|
UTSW |
4 |
56,947,119 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1189:Tmem245
|
UTSW |
4 |
56,937,901 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation