Incidental Mutation 'R5846:Tmem245'
ID |
453602 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmem245
|
Ensembl Gene |
ENSMUSG00000055296 |
Gene Name |
transmembrane protein 245 |
Synonyms |
D730040F13Rik, A630051L19Rik |
MMRRC Submission |
044064-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.298)
|
Stock # |
R5846 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
56866923-56947437 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 56903241 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 610
(S610T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103234
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068792]
[ENSMUST00000107609]
[ENSMUST00000132816]
|
AlphaFold |
B1AZA5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000068792
|
SMART Domains |
Protein: ENSMUSP00000067421 Gene: ENSMUSG00000055296
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 benign
Transcript: ENSMUST00000107609
AA Change: S610T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000103234 Gene: ENSMUSG00000055296 AA Change: S610T
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 benign
Transcript: ENSMUST00000132816
|
SMART Domains |
Protein: ENSMUSP00000117449 Gene: ENSMUSG00000055296
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.4%
|
Validation Efficiency |
97% (67/69) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4932414N04Rik |
T |
C |
2: 68,562,377 (GRCm39) |
S335P |
unknown |
Het |
Ace3 |
A |
T |
11: 105,889,188 (GRCm39) |
I473F |
probably benign |
Het |
Adcy2 |
T |
A |
13: 68,886,707 (GRCm39) |
N281Y |
probably damaging |
Het |
Adgra1 |
T |
A |
7: 139,455,196 (GRCm39) |
W275R |
probably damaging |
Het |
Apmap |
T |
C |
2: 150,450,341 (GRCm39) |
D20G |
probably damaging |
Het |
Arap2 |
T |
C |
5: 62,807,116 (GRCm39) |
T1184A |
probably damaging |
Het |
Atp13a2 |
T |
C |
4: 140,722,907 (GRCm39) |
V303A |
possibly damaging |
Het |
BC004004 |
A |
T |
17: 29,501,282 (GRCm39) |
|
probably benign |
Het |
C1s1 |
G |
A |
6: 124,517,912 (GRCm39) |
P23S |
possibly damaging |
Het |
C1s2 |
T |
A |
6: 124,608,123 (GRCm39) |
N197Y |
probably damaging |
Het |
Camsap3 |
A |
G |
8: 3,653,980 (GRCm39) |
H539R |
probably damaging |
Het |
Catsperb |
A |
T |
12: 101,569,025 (GRCm39) |
N899I |
probably damaging |
Het |
Cct4 |
T |
C |
11: 22,951,354 (GRCm39) |
|
probably benign |
Het |
Chrm2 |
A |
T |
6: 36,500,385 (GRCm39) |
T81S |
probably damaging |
Het |
Dnaaf3 |
A |
T |
7: 4,526,686 (GRCm39) |
S464T |
possibly damaging |
Het |
Dnah10 |
T |
A |
5: 124,900,437 (GRCm39) |
I3898N |
possibly damaging |
Het |
Dnah3 |
TTCCTC |
TTC |
7: 119,550,244 (GRCm39) |
|
probably benign |
Het |
Dnajc13 |
T |
C |
9: 104,067,584 (GRCm39) |
K1187E |
probably damaging |
Het |
Dock4 |
A |
T |
12: 40,867,735 (GRCm39) |
D1437V |
probably damaging |
Het |
Dst |
C |
T |
1: 34,234,942 (GRCm39) |
Q3674* |
probably null |
Het |
Eef1a2 |
T |
C |
2: 180,794,776 (GRCm39) |
Y141C |
probably damaging |
Het |
Fads3 |
G |
T |
19: 10,030,397 (GRCm39) |
Q178H |
probably null |
Het |
Fbxw22 |
T |
A |
9: 109,215,829 (GRCm39) |
M140L |
probably benign |
Het |
Fndc7 |
A |
G |
3: 108,788,707 (GRCm39) |
I178T |
probably damaging |
Het |
Foxd1 |
T |
C |
13: 98,491,549 (GRCm39) |
M141T |
probably damaging |
Het |
H4c2 |
T |
C |
13: 23,941,215 (GRCm39) |
V71A |
possibly damaging |
Het |
Havcr2 |
T |
C |
11: 46,360,343 (GRCm39) |
I141T |
probably benign |
Het |
Hectd1 |
A |
C |
12: 51,820,618 (GRCm39) |
N1190K |
probably damaging |
Het |
Hook3 |
T |
A |
8: 26,534,355 (GRCm39) |
|
probably benign |
Het |
Hpgd |
T |
A |
8: 56,760,702 (GRCm39) |
I133N |
possibly damaging |
Het |
Itih2 |
T |
C |
2: 10,102,714 (GRCm39) |
R807G |
probably benign |
Het |
Klhl35 |
G |
A |
7: 99,122,094 (GRCm39) |
G65D |
probably damaging |
Het |
Lrch4 |
C |
G |
5: 137,631,919 (GRCm39) |
C48W |
probably damaging |
Het |
Mafa |
A |
G |
15: 75,619,627 (GRCm39) |
S49P |
probably benign |
Het |
Magi1 |
A |
G |
6: 93,662,584 (GRCm39) |
V1170A |
probably damaging |
Het |
Mprip |
A |
T |
11: 59,649,380 (GRCm39) |
K1028M |
probably damaging |
Het |
Mtpn |
C |
T |
6: 35,489,225 (GRCm39) |
D100N |
probably benign |
Het |
Numb |
G |
T |
12: 83,923,521 (GRCm39) |
|
probably benign |
Het |
Obscn |
A |
G |
11: 58,929,435 (GRCm39) |
L6063P |
probably damaging |
Het |
Or2y6 |
A |
G |
11: 52,103,881 (GRCm39) |
*312Q |
probably null |
Het |
Or6c6c |
A |
T |
10: 129,540,756 (GRCm39) |
N3I |
probably damaging |
Het |
P3h3 |
A |
T |
6: 124,834,157 (GRCm39) |
|
probably null |
Het |
Pi4k2a |
A |
G |
19: 42,103,477 (GRCm39) |
D329G |
probably benign |
Het |
Ptch1 |
T |
C |
13: 63,713,268 (GRCm39) |
|
probably benign |
Het |
Samd9l |
A |
G |
6: 3,376,754 (GRCm39) |
V169A |
probably benign |
Het |
Sdk1 |
T |
C |
5: 142,100,148 (GRCm39) |
Y1393H |
probably damaging |
Het |
Slc18a3 |
T |
A |
14: 32,185,880 (GRCm39) |
M168L |
probably benign |
Het |
Smurf1 |
T |
C |
5: 144,816,190 (GRCm39) |
T722A |
probably damaging |
Het |
Ssr2 |
C |
T |
3: 88,488,379 (GRCm39) |
P85L |
probably damaging |
Het |
Syne2 |
G |
T |
12: 76,074,898 (GRCm39) |
A4614S |
probably benign |
Het |
Tgfbr3 |
C |
A |
5: 107,288,521 (GRCm39) |
G380V |
possibly damaging |
Het |
Tk1 |
G |
T |
11: 117,706,748 (GRCm39) |
|
probably benign |
Het |
Tmtc2 |
A |
G |
10: 105,107,302 (GRCm39) |
|
probably benign |
Het |
Trim30b |
A |
G |
7: 104,006,578 (GRCm39) |
Y93H |
possibly damaging |
Het |
Tsks |
A |
G |
7: 44,593,412 (GRCm39) |
D126G |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,733,812 (GRCm39) |
|
probably benign |
Het |
Usp15 |
A |
G |
10: 123,017,647 (GRCm39) |
W50R |
probably damaging |
Het |
Vmn2r55 |
A |
T |
7: 12,404,492 (GRCm39) |
F304I |
probably benign |
Het |
Xirp2 |
T |
A |
2: 67,339,587 (GRCm39) |
D609E |
probably damaging |
Het |
Zan |
C |
T |
5: 137,392,638 (GRCm39) |
|
probably null |
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 |
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 |
|
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'- TCACGAAAATGAGAACCACTGG -3'
(R):5'- AGGTCTAAGGAATTCAGGCTG -3'
Sequencing Primer
(F):5'- CCCTGTCAAGTGCCTGTAATATAAGG -3'
(R):5'- ATTCAGGCTGAGTGGAATGATCC -3'
|
Posted On |
2017-02-10 |