Incidental Mutation 'R8491:Tmem245'
| ID |
657984 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem245
|
| Ensembl Gene |
ENSMUSG00000055296 |
| Gene Name |
transmembrane protein 245 |
| Synonyms |
D730040F13Rik, A630051L19Rik |
| MMRRC Submission |
067933-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.298)
|
| Stock # |
R8491 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
56866923-56947437 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 56906261 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 548
(Q548R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103234
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068792]
[ENSMUST00000107609]
[ENSMUST00000132816]
|
| AlphaFold |
B1AZA5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068792
AA Change: Q556R
PolyPhen 2
Score 0.369 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000067421
Gene: ENSMUSG00000055296
AA Change: Q556R
| 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: Q548R
PolyPhen 2
Score 0.242 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000103234
Gene: ENSMUSG00000055296
AA Change: Q548R
| 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 benign
Transcript: ENSMUST00000132816
AA Change: Q151R
PolyPhen 2
Score 0.128 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000117449
Gene: ENSMUSG00000055296
AA Change: Q151R
| 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: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (52/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aard |
A |
T |
15: 51,903,708 (GRCm39) |
I44F |
unknown |
Het |
| Agap1 |
A |
G |
1: 89,537,294 (GRCm39) |
E100G |
probably damaging |
Het |
| Aoc3 |
G |
T |
11: 101,223,042 (GRCm39) |
R426L |
probably benign |
Het |
| Aspm |
T |
G |
1: 139,385,433 (GRCm39) |
L359R |
probably damaging |
Het |
| Atp8b2 |
A |
G |
3: 89,865,676 (GRCm39) |
S75P |
probably damaging |
Het |
| Bcl9l |
A |
G |
9: 44,412,065 (GRCm39) |
E17G |
probably benign |
Het |
| Casc3 |
G |
T |
11: 98,713,977 (GRCm39) |
R403L |
probably benign |
Het |
| Cdh16 |
T |
C |
8: 105,343,681 (GRCm39) |
D605G |
probably damaging |
Het |
| Cdh2 |
A |
G |
18: 16,757,775 (GRCm39) |
|
probably null |
Het |
| Cers5 |
T |
A |
15: 99,638,831 (GRCm39) |
K161N |
probably damaging |
Het |
| Cfap57 |
C |
T |
4: 118,472,128 (GRCm39) |
V84I |
probably benign |
Het |
| Cntnap3 |
A |
T |
13: 64,933,157 (GRCm39) |
D454E |
probably damaging |
Het |
| Cxcl15 |
T |
A |
5: 90,943,089 (GRCm39) |
C30* |
probably null |
Het |
| Cyp4a12a |
C |
A |
4: 115,158,650 (GRCm39) |
|
probably null |
Het |
| Dlc1 |
A |
T |
8: 37,052,000 (GRCm39) |
I577N |
probably benign |
Het |
| Dusp6 |
C |
A |
10: 99,102,081 (GRCm39) |
R210S |
possibly damaging |
Het |
| Faxc |
T |
A |
4: 21,993,319 (GRCm39) |
M321K |
probably damaging |
Het |
| Fez2 |
C |
A |
17: 78,692,200 (GRCm39) |
V340L |
probably benign |
Het |
| G530012D18Rik |
C |
G |
1: 85,504,935 (GRCm39) |
D113E |
unknown |
Het |
| Gdnf |
A |
G |
15: 7,864,272 (GRCm39) |
I228V |
possibly damaging |
Het |
| Gm12258 |
A |
G |
11: 58,745,122 (GRCm39) |
T18A |
|
Het |
| Gm5460 |
T |
C |
14: 33,761,740 (GRCm39) |
L194P |
probably damaging |
Het |
| Gm6040 |
T |
G |
8: 21,407,135 (GRCm39) |
R28S |
possibly damaging |
Het |
| Gmps |
A |
G |
3: 63,921,779 (GRCm39) |
E594G |
probably benign |
Het |
| Hspg2 |
T |
C |
4: 137,281,030 (GRCm39) |
V3334A |
probably benign |
Het |
| Idh3a |
T |
C |
9: 54,506,963 (GRCm39) |
|
probably null |
Het |
| Ins1 |
A |
G |
19: 52,252,808 (GRCm39) |
|
probably benign |
Het |
| Mug1 |
A |
T |
6: 121,859,688 (GRCm39) |
D1229V |
probably damaging |
Het |
| Ndufs1 |
T |
C |
1: 63,196,384 (GRCm39) |
D347G |
probably damaging |
Het |
| Or52d3 |
G |
A |
7: 104,229,242 (GRCm39) |
V130I |
probably damaging |
Het |
| Or8k25 |
A |
G |
2: 86,244,099 (GRCm39) |
I99T |
probably benign |
Het |
| Pclo |
C |
A |
5: 14,565,244 (GRCm39) |
N3K |
unknown |
Het |
| Pigl |
A |
G |
11: 62,364,293 (GRCm39) |
R112G |
probably null |
Het |
| Prkcq |
T |
C |
2: 11,284,335 (GRCm39) |
Y502H |
probably damaging |
Het |
| Psg16 |
T |
C |
7: 16,824,437 (GRCm39) |
Y74H |
probably damaging |
Het |
| Psme4 |
G |
A |
11: 30,722,161 (GRCm39) |
G60D |
possibly damaging |
Het |
| Rpp14 |
A |
T |
14: 8,083,925 (GRCm38) |
Q27L |
possibly damaging |
Het |
| Serpini2 |
A |
C |
3: 75,159,822 (GRCm39) |
C315G |
probably damaging |
Het |
| Slitrk3 |
A |
G |
3: 72,958,592 (GRCm39) |
I60T |
possibly damaging |
Het |
| Svil |
T |
C |
18: 5,106,678 (GRCm39) |
Y1436H |
probably damaging |
Het |
| Tob1 |
A |
G |
11: 94,105,115 (GRCm39) |
D217G |
probably benign |
Het |
| Trim21 |
A |
C |
7: 102,208,689 (GRCm39) |
D343E |
probably benign |
Het |
| Triobp |
C |
T |
15: 78,878,326 (GRCm39) |
H1750Y |
possibly damaging |
Het |
| Trmt13 |
T |
C |
3: 116,376,228 (GRCm39) |
R388G |
probably benign |
Het |
| Ubqlnl |
A |
G |
7: 103,798,582 (GRCm39) |
V305A |
probably benign |
Het |
| Ushbp1 |
A |
G |
8: 71,845,041 (GRCm39) |
V244A |
probably benign |
Het |
| Vdac2 |
T |
A |
14: 21,887,838 (GRCm39) |
N60K |
possibly damaging |
Het |
| Vwa5a |
A |
G |
9: 38,652,476 (GRCm39) |
E753G |
probably damaging |
Het |
| Washc4 |
A |
G |
10: 83,411,987 (GRCm39) |
D706G |
probably benign |
Het |
| Zbtb5 |
T |
C |
4: 44,995,090 (GRCm39) |
D98G |
probably damaging |
Het |
| Zfp53 |
A |
G |
17: 21,729,621 (GRCm39) |
I551M |
probably benign |
Het |
| Zfp958 |
G |
T |
8: 4,676,215 (GRCm39) |
R61I |
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 |
|
|
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 |
|
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'- TCACTGCTGGAATGGGAAGTG -3'
(R):5'- TCTTGTACCCTGAGACCCAG -3'
Sequencing Primer
(F):5'- TCATCCAAAGGCTGCTAGTG -3'
(R):5'- CTGAGACCCAGGAAGAGAAGTG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation