Incidental Mutation 'R8280:Tmem245'
ID |
638142 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmem245
|
Ensembl Gene |
ENSMUSG00000055296 |
Gene Name |
transmembrane protein 245 |
Synonyms |
D730040F13Rik, A630051L19Rik |
MMRRC Submission |
067703-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.298)
|
Stock # |
R8280 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
56866923-56947437 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 56890884 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 715
(S715T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103234
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068792]
[ENSMUST00000107609]
[ENSMUST00000132816]
|
AlphaFold |
B1AZA5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000068792
AA Change: S711T
PolyPhen 2
Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000067421 Gene: ENSMUSG00000055296 AA Change: S711T
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 |
possibly damaging
Transcript: ENSMUST00000107609
AA Change: S715T
PolyPhen 2
Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000103234 Gene: ENSMUSG00000055296 AA Change: S715T
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 |
probably damaging
Transcript: ENSMUST00000132816
AA Change: S306T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000117449 Gene: ENSMUSG00000055296 AA Change: S306T
Domain | Start | End | E-Value | Type |
transmembrane domain
|
52 |
74 |
N/A |
INTRINSIC |
Pfam:UPF0118
|
182 |
433 |
4.5e-14 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (47/47) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933427D14Rik |
A |
G |
11: 72,086,667 (GRCm39) |
V248A |
possibly damaging |
Het |
Alpk2 |
A |
G |
18: 65,440,274 (GRCm39) |
I373T |
probably benign |
Het |
Anxa1 |
A |
T |
19: 20,352,650 (GRCm39) |
M308K |
possibly damaging |
Het |
Apob |
T |
C |
12: 8,060,851 (GRCm39) |
M3111T |
possibly damaging |
Het |
Cacna1e |
T |
C |
1: 154,344,839 (GRCm39) |
D1095G |
probably damaging |
Het |
Cacna2d3 |
C |
T |
14: 28,704,328 (GRCm39) |
V818I |
probably benign |
Het |
Ces1c |
T |
A |
8: 93,825,809 (GRCm39) |
H550L |
possibly damaging |
Het |
Cluap1 |
A |
G |
16: 3,729,017 (GRCm39) |
|
probably benign |
Het |
Cped1 |
G |
T |
6: 21,986,820 (GRCm39) |
R4L |
unknown |
Het |
Cyb561d1 |
A |
G |
3: 108,106,532 (GRCm39) |
I229T |
probably benign |
Het |
Cyb561d1 |
A |
G |
3: 108,106,713 (GRCm39) |
C169R |
probably damaging |
Het |
Dip2a |
C |
T |
10: 76,100,610 (GRCm39) |
V1522M |
possibly damaging |
Het |
Diras2 |
A |
G |
13: 52,661,863 (GRCm39) |
M148T |
probably benign |
Het |
Dnah5 |
G |
T |
15: 28,408,538 (GRCm39) |
A3508S |
probably benign |
Het |
Fam43b |
T |
C |
4: 138,123,281 (GRCm39) |
E13G |
probably damaging |
Het |
Farsa |
T |
G |
8: 85,587,808 (GRCm39) |
I113S |
probably damaging |
Het |
Fcrl2 |
G |
T |
3: 87,166,364 (GRCm39) |
S137* |
probably null |
Het |
Fer1l4 |
T |
C |
2: 155,891,620 (GRCm39) |
D114G |
probably damaging |
Het |
Gm4181 |
A |
T |
14: 51,868,015 (GRCm39) |
*185R |
probably null |
Het |
Gm5901 |
G |
A |
7: 105,027,105 (GRCm39) |
|
probably null |
Het |
Heatr4 |
C |
A |
12: 84,016,670 (GRCm39) |
E532D |
probably benign |
Het |
Il10 |
C |
T |
1: 130,947,749 (GRCm39) |
P34L |
possibly damaging |
Het |
Irag1 |
T |
C |
7: 110,522,828 (GRCm39) |
E205G |
possibly damaging |
Het |
Lilra6 |
A |
G |
7: 3,916,046 (GRCm39) |
L271P |
probably benign |
Het |
Mlh1 |
A |
T |
9: 111,078,286 (GRCm39) |
|
probably null |
Het |
Naaa |
T |
C |
5: 92,411,308 (GRCm39) |
Y293C |
probably damaging |
Het |
Ndufaf7 |
G |
A |
17: 79,251,275 (GRCm39) |
G227R |
possibly damaging |
Het |
Nmral1 |
A |
G |
16: 4,531,659 (GRCm39) |
S199P |
probably damaging |
Het |
Or1o11 |
T |
C |
17: 37,756,744 (GRCm39) |
F100L |
probably benign |
Het |
Or4c122 |
A |
T |
2: 89,079,234 (GRCm39) |
I268K |
probably damaging |
Het |
Or4k2 |
A |
C |
14: 50,423,723 (GRCm39) |
L318* |
probably null |
Het |
Or4x6 |
C |
A |
2: 89,949,742 (GRCm39) |
V67L |
probably benign |
Het |
Or6b2 |
T |
C |
1: 92,407,729 (GRCm39) |
I205V |
noncoding transcript |
Het |
Or8b52 |
T |
A |
9: 38,576,783 (GRCm39) |
Y119F |
probably damaging |
Het |
Or8g21 |
C |
T |
9: 38,906,075 (GRCm39) |
V219I |
probably benign |
Het |
Paxbp1 |
G |
T |
16: 90,831,123 (GRCm39) |
H418N |
probably benign |
Het |
Prtg |
A |
G |
9: 72,813,433 (GRCm39) |
Y931C |
probably damaging |
Het |
Robo4 |
T |
C |
9: 37,315,372 (GRCm39) |
S239P |
probably benign |
Het |
Rragd |
A |
G |
4: 32,995,112 (GRCm39) |
R76G |
probably benign |
Het |
Samd8 |
G |
A |
14: 21,830,219 (GRCm39) |
W278* |
probably null |
Het |
Slc22a8 |
T |
A |
19: 8,586,627 (GRCm39) |
Y379* |
probably null |
Het |
Taar8c |
T |
A |
10: 23,976,835 (GRCm39) |
I326F |
probably benign |
Het |
Tnnt3 |
A |
G |
7: 142,055,359 (GRCm39) |
I1M |
unknown |
Het |
Trio |
A |
G |
15: 27,902,996 (GRCm39) |
I214T |
unknown |
Het |
Uqcrfs1 |
A |
T |
13: 30,729,071 (GRCm39) |
S54T |
probably benign |
Het |
Usf3 |
A |
G |
16: 44,038,864 (GRCm39) |
T1115A |
probably benign |
Het |
Zscan4f |
A |
T |
7: 11,251,599 (GRCm39) |
I212F |
probably damaging |
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 |
|
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 |
|
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'- CACATTGCTGATCCAGAGACC -3'
(R):5'- TCTCATCAGAGAGAAGTGTAGTTTGC -3'
Sequencing Primer
(F):5'- GCTGATCCAGAGACCTTATTCTAAGG -3'
(R):5'- TGCAGCTTAGATATCTATGGGC -3'
|
Posted On |
2020-07-28 |