Incidental Mutation 'R0864:Tmem245'
ID |
82245 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmem245
|
Ensembl Gene |
ENSMUSG00000055296 |
Gene Name |
transmembrane protein 245 |
Synonyms |
D730040F13Rik, A630051L19Rik |
MMRRC Submission |
039038-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.298)
|
Stock # |
R0864 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
56866923-56947437 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 56890837 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 321
(H321Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117449
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068792]
[ENSMUST00000107609]
[ENSMUST00000132816]
|
AlphaFold |
B1AZA5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000068792
AA Change: H726Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000067421 Gene: ENSMUSG00000055296 AA Change: H726Q
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 |
noncoding transcript
Transcript: ENSMUST00000083610
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000107609
AA Change: H730Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000103234 Gene: ENSMUSG00000055296 AA Change: H730Q
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 |
probably damaging
Transcript: ENSMUST00000132816
AA Change: H321Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000117449 Gene: ENSMUSG00000055296 AA Change: H321Q
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
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.1%
- 10x: 97.3%
- 20x: 93.8%
|
Validation Efficiency |
93% (39/42) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acvr2a |
A |
G |
2: 48,784,798 (GRCm39) |
|
probably benign |
Het |
Alx4 |
A |
G |
2: 93,473,200 (GRCm39) |
Y66C |
probably damaging |
Het |
Apol7e |
T |
A |
15: 77,601,993 (GRCm39) |
V197E |
probably damaging |
Het |
Chac1 |
C |
A |
2: 119,183,950 (GRCm39) |
A184E |
probably damaging |
Het |
Clmn |
G |
A |
12: 104,756,274 (GRCm39) |
T192I |
possibly damaging |
Het |
Csmd1 |
T |
A |
8: 16,240,040 (GRCm39) |
Y1124F |
probably damaging |
Het |
Ctnnbl1 |
C |
T |
2: 157,641,337 (GRCm39) |
|
probably benign |
Het |
D430041D05Rik |
G |
A |
2: 104,060,773 (GRCm39) |
P1374S |
possibly damaging |
Het |
Dyrk4 |
T |
C |
6: 126,854,296 (GRCm39) |
E499G |
possibly damaging |
Het |
Fat1 |
T |
A |
8: 45,471,074 (GRCm39) |
I1603N |
probably damaging |
Het |
Fbn1 |
A |
T |
2: 125,184,811 (GRCm39) |
C1660* |
probably null |
Het |
Gapt |
G |
C |
13: 110,490,273 (GRCm39) |
T130R |
probably damaging |
Het |
Hpn |
T |
C |
7: 30,808,426 (GRCm39) |
I41V |
probably benign |
Het |
Iqca1 |
C |
A |
1: 90,070,453 (GRCm39) |
G133V |
probably null |
Het |
Map4 |
A |
G |
9: 109,808,037 (GRCm39) |
Y34C |
probably damaging |
Het |
Mapk8 |
C |
T |
14: 33,114,949 (GRCm39) |
R189H |
probably damaging |
Het |
Mprip |
T |
C |
11: 59,649,587 (GRCm39) |
V1097A |
probably benign |
Het |
Msh2 |
A |
G |
17: 87,987,480 (GRCm39) |
T207A |
probably benign |
Het |
Muc4 |
A |
G |
16: 32,570,820 (GRCm39) |
S627G |
probably benign |
Het |
Nbeal2 |
G |
A |
9: 110,457,263 (GRCm39) |
T2266I |
probably damaging |
Het |
Pdcd6ip |
A |
T |
9: 113,503,578 (GRCm39) |
|
probably benign |
Het |
Pdk2 |
A |
G |
11: 94,918,759 (GRCm39) |
Y339H |
probably damaging |
Het |
Piwil2 |
T |
C |
14: 70,632,823 (GRCm39) |
D583G |
probably benign |
Het |
Plin4 |
T |
A |
17: 56,410,966 (GRCm39) |
M1022L |
probably benign |
Het |
Pmpca |
G |
A |
2: 26,283,221 (GRCm39) |
|
probably null |
Het |
Rbbp4 |
G |
T |
4: 129,214,344 (GRCm39) |
|
probably benign |
Het |
Rbbp8 |
G |
A |
18: 11,865,241 (GRCm39) |
|
probably benign |
Het |
Rbms3 |
A |
T |
9: 117,458,860 (GRCm39) |
|
probably benign |
Het |
Snx14 |
A |
T |
9: 88,266,049 (GRCm39) |
S726T |
possibly damaging |
Het |
Supt4a |
T |
A |
11: 87,633,913 (GRCm39) |
S88T |
probably benign |
Het |
Trim43c |
A |
T |
9: 88,725,087 (GRCm39) |
H202L |
probably benign |
Het |
Trip12 |
A |
G |
1: 84,721,730 (GRCm39) |
F1334S |
probably damaging |
Het |
Vmn1r36 |
T |
C |
6: 66,693,840 (GRCm39) |
T12A |
probably null |
Het |
Ywhae |
T |
G |
11: 75,650,256 (GRCm39) |
|
probably null |
Het |
Zc3h4 |
T |
A |
7: 16,154,104 (GRCm39) |
S131T |
probably damaging |
Het |
Zfp280b |
C |
T |
10: 75,874,139 (GRCm39) |
T6M |
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 |
IGL03093:Tmem245
|
APN |
4 |
56,886,019 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGCTATCAAACTGCTCACTCCTTGC -3'
(R):5'- AGACAAATGAGACCTGTTGCCAGAC -3'
Sequencing Primer
(F):5'- CACCTGCAAATGACTAGGTTATGG -3'
(R):5'- ACCTGTTGCCAGACTTGGAATAC -3'
|
Posted On |
2013-11-08 |