Incidental Mutation 'R6314:Tmem245'
| ID |
509927 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem245
|
| Ensembl Gene |
ENSMUSG00000055296 |
| Gene Name |
transmembrane protein 245 |
| Synonyms |
D730040F13Rik, A630051L19Rik |
| MMRRC Submission |
044471-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.298)
|
| Stock # |
R6314 (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 56888592 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 778
(V778D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000067421
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068792]
[ENSMUST00000107609]
[ENSMUST00000132816]
|
| AlphaFold |
B1AZA5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000068792
AA Change: V778D
PolyPhen 2
Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000067421
Gene: ENSMUSG00000055296
AA Change: V778D
| 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: V782D
PolyPhen 2
Score 0.632 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000103234
Gene: ENSMUSG00000055296
AA Change: V782D
| 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: V373D
PolyPhen 2
Score 0.818 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000117449
Gene: ENSMUSG00000055296
AA Change: V373D
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.5%
|
| Validation Efficiency |
98% (54/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930449I24Rik |
A |
C |
5: 146,441,702 (GRCm39) |
E283A |
possibly damaging |
Het |
| Aadacl2 |
A |
T |
3: 59,924,824 (GRCm39) |
R130S |
probably damaging |
Het |
| Adam22 |
A |
T |
5: 8,177,365 (GRCm39) |
C581* |
probably null |
Het |
| Adss2 |
T |
A |
1: 177,595,334 (GRCm39) |
Y402F |
probably damaging |
Het |
| Agfg1 |
A |
T |
1: 82,836,155 (GRCm39) |
Q13H |
probably damaging |
Het |
| Ankdd1a |
C |
T |
9: 65,415,343 (GRCm39) |
A227T |
possibly damaging |
Het |
| Armc8 |
A |
G |
9: 99,417,937 (GRCm39) |
S74P |
probably benign |
Het |
| Atn1 |
A |
T |
6: 124,724,013 (GRCm39) |
|
probably benign |
Het |
| Ddx5 |
T |
C |
11: 106,679,347 (GRCm39) |
|
probably benign |
Het |
| Depdc1a |
T |
A |
3: 159,204,051 (GRCm39) |
H33Q |
probably damaging |
Het |
| Dnmt3l |
A |
T |
10: 77,895,521 (GRCm39) |
Y58F |
probably benign |
Het |
| Efemp1 |
C |
T |
11: 28,864,603 (GRCm39) |
T219I |
probably benign |
Het |
| Enpp2 |
T |
C |
15: 54,729,366 (GRCm39) |
N436D |
probably damaging |
Het |
| Epb41l4a |
A |
G |
18: 34,007,208 (GRCm39) |
V261A |
probably damaging |
Het |
| Erap1 |
A |
T |
13: 74,822,894 (GRCm39) |
K802N |
probably damaging |
Het |
| Fads2b |
T |
C |
2: 85,332,520 (GRCm39) |
N168S |
probably benign |
Het |
| Fcrl6 |
T |
A |
1: 172,426,186 (GRCm39) |
|
probably null |
Het |
| Fv1 |
A |
T |
4: 147,954,156 (GRCm39) |
|
probably null |
Het |
| Gdpd4 |
T |
A |
7: 97,623,160 (GRCm39) |
M257K |
probably damaging |
Het |
| Gorab |
T |
C |
1: 163,224,658 (GRCm39) |
S48G |
probably damaging |
Het |
| Gxylt2 |
A |
T |
6: 100,775,164 (GRCm39) |
H361L |
probably damaging |
Het |
| Hk1 |
A |
G |
10: 62,128,223 (GRCm39) |
Y300H |
possibly damaging |
Het |
| Hk3 |
T |
C |
13: 55,161,393 (GRCm39) |
R156G |
probably benign |
Het |
| Hook3 |
T |
A |
8: 26,578,136 (GRCm39) |
M118L |
probably benign |
Het |
| Lmnb2 |
G |
A |
10: 80,745,804 (GRCm39) |
R92C |
probably damaging |
Het |
| Lsr |
A |
G |
7: 30,658,024 (GRCm39) |
L380P |
probably damaging |
Het |
| Mettl16 |
A |
T |
11: 74,686,832 (GRCm39) |
R204* |
probably null |
Het |
| Or5h18 |
A |
T |
16: 58,847,820 (GRCm39) |
I150K |
probably benign |
Het |
| Or7a37 |
A |
G |
10: 78,806,179 (GRCm39) |
H232R |
probably benign |
Het |
| Or7e173 |
C |
A |
9: 19,938,958 (GRCm39) |
S92I |
probably damaging |
Het |
| Orc3 |
C |
A |
4: 34,579,797 (GRCm39) |
G494C |
possibly damaging |
Het |
| Pcare |
T |
G |
17: 72,059,452 (GRCm39) |
Q75P |
probably benign |
Het |
| Pip5k1a |
G |
T |
3: 94,975,432 (GRCm39) |
T346K |
probably damaging |
Het |
| Pitx1 |
A |
T |
13: 55,974,166 (GRCm39) |
S222T |
possibly damaging |
Het |
| Pm20d1 |
T |
C |
1: 131,743,754 (GRCm39) |
V473A |
possibly damaging |
Het |
| Pnpla6 |
C |
T |
8: 3,571,572 (GRCm39) |
L168F |
probably benign |
Het |
| Pramel13 |
T |
C |
4: 144,121,157 (GRCm39) |
D289G |
probably damaging |
Het |
| Reln |
C |
A |
5: 22,357,482 (GRCm39) |
E195* |
probably null |
Het |
| S100a7l2 |
A |
T |
3: 90,995,683 (GRCm39) |
V73E |
possibly damaging |
Het |
| Sec24b |
A |
T |
3: 129,800,894 (GRCm39) |
|
probably null |
Het |
| Selenbp1 |
A |
G |
3: 94,844,576 (GRCm39) |
N78D |
probably damaging |
Het |
| Serpina1d |
T |
A |
12: 103,730,959 (GRCm39) |
T340S |
probably benign |
Het |
| Slc13a2 |
CGTTATCTGT |
CGT |
11: 78,294,306 (GRCm39) |
|
probably benign |
Het |
| Snap29 |
T |
C |
16: 17,237,183 (GRCm39) |
M98T |
probably benign |
Het |
| Son |
G |
T |
16: 91,457,298 (GRCm39) |
|
probably benign |
Het |
| Spef1l |
A |
C |
7: 139,556,402 (GRCm39) |
L195R |
possibly damaging |
Het |
| Tgfbi |
A |
T |
13: 56,773,976 (GRCm39) |
T252S |
probably benign |
Het |
| Thsd7a |
T |
C |
6: 12,554,996 (GRCm39) |
N296S |
possibly damaging |
Het |
| Tmem225 |
C |
G |
9: 40,062,016 (GRCm39) |
T210S |
probably benign |
Het |
| Tor4a |
T |
C |
2: 25,084,794 (GRCm39) |
R370G |
possibly damaging |
Het |
| Tubgcp3 |
T |
C |
8: 12,698,625 (GRCm39) |
H442R |
probably benign |
Het |
| Vmn1r20 |
A |
T |
6: 57,409,042 (GRCm39) |
M123L |
probably benign |
Het |
| Zfp622 |
T |
C |
15: 25,987,067 (GRCm39) |
V273A |
probably benign |
Het |
| Zhx1 |
C |
T |
15: 57,917,398 (GRCm39) |
V283I |
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 |
|
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 |
|
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'- TTCAAGTGGGCCTCCAATGG -3'
(R):5'- ACTTTGTAACTGTTGCCCGG -3'
Sequencing Primer
(F):5'- CTGGGATTTGAACTCAGGACCTAC -3'
(R):5'- AACTGTTGCCCGGGCTTTG -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation