Incidental Mutation 'R5851:Tmem245'
ID |
454658 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmem245
|
Ensembl Gene |
ENSMUSG00000055296 |
Gene Name |
transmembrane protein 245 |
Synonyms |
D730040F13Rik, A630051L19Rik |
MMRRC Submission |
044067-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.298)
|
Stock # |
R5851 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
56866923-56947437 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 56916770 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 53
(I53V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117449
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068792]
[ENSMUST00000107609]
[ENSMUST00000132816]
|
AlphaFold |
B1AZA5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000068792
AA Change: I458V
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000067421 Gene: ENSMUSG00000055296 AA Change: I458V
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: ENSMUST00000082661
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107609
AA Change: I450V
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000103234 Gene: ENSMUSG00000055296 AA Change: I450V
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
AA Change: I53V
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000117449 Gene: ENSMUSG00000055296 AA Change: I53V
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 |
0.0622 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.0%
|
Validation Efficiency |
100% (75/75) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca2 |
A |
G |
2: 25,332,322 (GRCm39) |
N1452D |
possibly damaging |
Het |
Abhd15 |
T |
C |
11: 77,409,273 (GRCm39) |
L329P |
probably benign |
Het |
Add3 |
T |
C |
19: 53,225,205 (GRCm39) |
S442P |
probably damaging |
Het |
Arhgef18 |
T |
C |
8: 3,484,980 (GRCm39) |
F228L |
probably damaging |
Het |
Bptf |
A |
T |
11: 107,001,688 (GRCm39) |
Y475N |
probably damaging |
Het |
C3 |
T |
C |
17: 57,518,612 (GRCm39) |
N1257S |
probably null |
Het |
Cdkl1 |
A |
T |
12: 69,803,338 (GRCm39) |
Y179* |
probably null |
Het |
Ceacam1 |
T |
C |
7: 25,174,025 (GRCm39) |
N210S |
possibly damaging |
Het |
Celf3 |
T |
A |
3: 94,386,433 (GRCm39) |
I7N |
probably damaging |
Het |
Clxn |
T |
A |
16: 14,738,300 (GRCm39) |
L155H |
probably damaging |
Het |
Cmpk1 |
A |
G |
4: 114,844,167 (GRCm39) |
V55A |
possibly damaging |
Het |
Csrnp1 |
C |
T |
9: 119,802,144 (GRCm39) |
G305D |
possibly damaging |
Het |
Dnah3 |
A |
G |
7: 119,638,585 (GRCm39) |
S1266P |
possibly damaging |
Het |
Edc4 |
T |
C |
8: 106,617,499 (GRCm39) |
L1077P |
probably damaging |
Het |
Fam174a |
G |
A |
1: 95,252,868 (GRCm39) |
G157S |
probably damaging |
Het |
Fubp3 |
T |
A |
2: 31,488,622 (GRCm39) |
D159E |
probably benign |
Het |
Garem2 |
C |
T |
5: 30,319,288 (GRCm39) |
T250M |
probably damaging |
Het |
H2-Eb1 |
C |
T |
17: 34,528,745 (GRCm39) |
P92L |
probably benign |
Het |
Ifnl3 |
G |
T |
7: 28,222,936 (GRCm39) |
C69F |
probably damaging |
Het |
Itga2b |
C |
A |
11: 102,348,427 (GRCm39) |
|
probably benign |
Het |
Klhl33 |
A |
T |
14: 51,130,335 (GRCm39) |
D386E |
probably damaging |
Het |
Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
Loricrin |
G |
A |
3: 91,987,846 (GRCm39) |
A480V |
unknown |
Het |
Msh3 |
G |
T |
13: 92,352,030 (GRCm39) |
Q1041K |
probably benign |
Het |
Mtrex |
G |
A |
13: 113,045,486 (GRCm39) |
R349W |
probably damaging |
Het |
Myo1e |
G |
A |
9: 70,291,086 (GRCm39) |
G959E |
probably benign |
Het |
Nfat5 |
G |
T |
8: 108,074,359 (GRCm39) |
V338L |
probably damaging |
Het |
Nrf1 |
A |
G |
6: 30,089,975 (GRCm39) |
H18R |
possibly damaging |
Het |
Nup160 |
A |
G |
2: 90,537,382 (GRCm39) |
D752G |
probably benign |
Het |
Obscn |
A |
T |
11: 58,885,526 (GRCm39) |
L2489* |
probably null |
Het |
Or4p22 |
A |
G |
2: 88,317,204 (GRCm39) |
I43V |
possibly damaging |
Het |
Or51q1c |
A |
G |
7: 103,652,659 (GRCm39) |
E59G |
probably benign |
Het |
Paip1 |
T |
C |
13: 119,577,301 (GRCm39) |
S215P |
possibly damaging |
Het |
Pate2 |
T |
A |
9: 35,581,797 (GRCm39) |
Y26* |
probably null |
Het |
Pcdhb10 |
A |
G |
18: 37,545,811 (GRCm39) |
I296V |
probably benign |
Het |
Pdzph1 |
T |
G |
17: 59,280,741 (GRCm39) |
T514P |
probably benign |
Het |
Pnlip |
G |
A |
19: 58,662,224 (GRCm39) |
W123* |
probably null |
Het |
Prmt2 |
C |
A |
10: 76,072,574 (GRCm39) |
C9F |
possibly damaging |
Het |
Rbl1 |
T |
A |
2: 157,009,245 (GRCm39) |
K763N |
probably benign |
Het |
Rfk |
C |
T |
19: 17,372,562 (GRCm39) |
A28V |
probably damaging |
Het |
Scart1 |
C |
T |
7: 139,807,940 (GRCm39) |
P704S |
possibly damaging |
Het |
Sdk1 |
G |
A |
5: 141,948,424 (GRCm39) |
V590I |
probably benign |
Het |
Sele |
A |
G |
1: 163,877,143 (GRCm39) |
K140E |
probably benign |
Het |
Sla |
G |
A |
15: 66,655,572 (GRCm39) |
T189I |
probably damaging |
Het |
Slc46a2 |
A |
G |
4: 59,913,906 (GRCm39) |
V339A |
probably damaging |
Het |
Slc5a9 |
A |
G |
4: 111,742,797 (GRCm39) |
F432L |
probably benign |
Het |
Slc6a19 |
A |
G |
13: 73,839,859 (GRCm39) |
F141S |
possibly damaging |
Het |
Tas2r123 |
T |
C |
6: 132,824,271 (GRCm39) |
L56S |
probably damaging |
Het |
Tektip1 |
A |
T |
10: 81,200,711 (GRCm39) |
|
probably null |
Het |
Tor2a |
A |
T |
2: 32,651,619 (GRCm39) |
Q278L |
probably benign |
Het |
Trav6-3 |
A |
G |
14: 53,667,572 (GRCm39) |
M15V |
probably benign |
Het |
Ttc28 |
G |
A |
5: 111,383,335 (GRCm39) |
|
probably benign |
Het |
Ubap2 |
G |
A |
4: 41,206,268 (GRCm39) |
Q534* |
probably null |
Het |
Yju2 |
C |
T |
17: 56,274,582 (GRCm39) |
S298F |
probably damaging |
Het |
Zfp954 |
C |
A |
7: 7,118,624 (GRCm39) |
E307* |
probably null |
Het |
Zscan21 |
A |
G |
5: 138,124,740 (GRCm39) |
K219E |
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 |
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'- ACTTTAGTGAGCAGAGGTACTTCTG -3'
(R):5'- AGCCATGACAATAATGAACTCTGC -3'
Sequencing Primer
(F):5'- GCAGAGGTACTTCTGATAAGCC -3'
(R):5'- TAATGAACTCTGCACATAACAGC -3'
|
Posted On |
2017-02-10 |