Incidental Mutation 'R9597:Tmem62'
| ID |
723321 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem62
|
| Ensembl Gene |
ENSMUSG00000054484 |
| Gene Name |
transmembrane protein 62 |
| Synonyms |
B830009D23Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.085)
|
| Stock # |
R9597 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
120807498-120838333 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 120829567 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 437
(F437L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000064310
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067582]
[ENSMUST00000110686]
[ENSMUST00000139428]
|
| AlphaFold |
Q8BXJ9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000067582
AA Change: F437L
PolyPhen 2
Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000064310
Gene: ENSMUSG00000054484
AA Change: F437L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
Pfam:Metallophos
|
56 |
261 |
7.3e-11 |
PFAM |
|
transmembrane domain
|
430 |
452 |
N/A |
INTRINSIC |
|
transmembrane domain
|
479 |
501 |
N/A |
INTRINSIC |
|
transmembrane domain
|
530 |
552 |
N/A |
INTRINSIC |
|
transmembrane domain
|
573 |
595 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110686
AA Change: F307L
PolyPhen 2
Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000106314
Gene: ENSMUSG00000054484
AA Change: F307L
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
300 |
322 |
N/A |
INTRINSIC |
|
transmembrane domain
|
349 |
371 |
N/A |
INTRINSIC |
|
transmembrane domain
|
400 |
422 |
N/A |
INTRINSIC |
|
transmembrane domain
|
443 |
465 |
N/A |
INTRINSIC |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000139428
|
| SMART Domains |
Protein: ENSMUSP00000118808
Gene: ENSMUSG00000054484
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
SCOP:d1utea_
|
59 |
274 |
9e-9 |
SMART |
|
low complexity region
|
308 |
327 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
T |
C |
6: 142,578,813 (GRCm39) |
E952G |
possibly damaging |
Het |
| Abhd12 |
T |
C |
2: 150,688,198 (GRCm39) |
I170V |
probably benign |
Het |
| Ankmy1 |
A |
G |
1: 92,804,773 (GRCm39) |
V840A |
|
Het |
| Arhgap18 |
T |
A |
10: 26,788,655 (GRCm39) |
V589D |
probably damaging |
Het |
| Armc7 |
A |
G |
11: 115,379,712 (GRCm39) |
T137A |
probably benign |
Het |
| Bcl9 |
A |
T |
3: 97,117,323 (GRCm39) |
I457K |
probably benign |
Het |
| Ccdc148 |
A |
T |
2: 58,893,397 (GRCm39) |
Y78N |
probably benign |
Het |
| Ccdc24 |
A |
G |
4: 117,729,348 (GRCm39) |
V43A |
probably damaging |
Het |
| Cep68 |
G |
A |
11: 20,188,506 (GRCm39) |
T633I |
probably benign |
Het |
| Cfap157 |
T |
C |
2: 32,669,753 (GRCm39) |
I277V |
probably benign |
Het |
| Clec4a2 |
C |
A |
6: 123,116,291 (GRCm39) |
A152E |
probably benign |
Het |
| Crocc2 |
G |
T |
1: 93,118,217 (GRCm39) |
C380F |
probably benign |
Het |
| Cyp2ab1 |
A |
T |
16: 20,135,340 (GRCm39) |
M54K |
probably benign |
Het |
| Fbn1 |
C |
A |
2: 125,187,906 (GRCm39) |
R1541L |
probably benign |
Het |
| Fem1c |
G |
T |
18: 46,638,362 (GRCm39) |
L547I |
probably damaging |
Het |
| Firrm |
A |
T |
1: 163,804,340 (GRCm39) |
L331Q |
probably null |
Het |
| Fras1 |
A |
G |
5: 96,888,551 (GRCm39) |
D2699G |
probably damaging |
Het |
| Inpp5f |
A |
C |
7: 128,278,515 (GRCm39) |
D435A |
possibly damaging |
Het |
| Kcnn2 |
T |
C |
18: 45,816,149 (GRCm39) |
V460A |
probably benign |
Het |
| Krt81 |
T |
C |
15: 101,358,919 (GRCm39) |
I278V |
probably benign |
Het |
| Lrp2 |
T |
A |
2: 69,260,703 (GRCm39) |
E4509D |
probably benign |
Het |
| Mfsd14b |
C |
A |
13: 65,221,414 (GRCm39) |
V293L |
probably benign |
Het |
| Myh2 |
G |
A |
11: 67,064,302 (GRCm39) |
D86N |
possibly damaging |
Het |
| Naip6 |
T |
C |
13: 100,436,646 (GRCm39) |
I626V |
probably benign |
Het |
| Neto1 |
T |
C |
18: 86,422,821 (GRCm39) |
S93P |
possibly damaging |
Het |
| Obscn |
G |
T |
11: 59,027,009 (GRCm39) |
R65S |
probably benign |
Het |
| Or52e8 |
A |
G |
7: 104,624,413 (GRCm39) |
F264L |
probably benign |
Het |
| Pcdh7 |
A |
G |
5: 57,877,197 (GRCm39) |
T251A |
possibly damaging |
Het |
| Pramel15 |
A |
T |
4: 144,103,526 (GRCm39) |
V200E |
probably damaging |
Het |
| Prdm14 |
T |
C |
1: 13,192,657 (GRCm39) |
K361E |
possibly damaging |
Het |
| Rgs2 |
A |
G |
1: 143,877,826 (GRCm39) |
F125L |
probably damaging |
Het |
| Scd2 |
C |
A |
19: 44,288,246 (GRCm39) |
Q213K |
probably damaging |
Het |
| Slc23a2 |
C |
A |
2: 131,904,098 (GRCm39) |
R454L |
probably damaging |
Het |
| Smg1 |
T |
C |
7: 117,812,270 (GRCm39) |
D31G |
unknown |
Het |
| Spata7 |
T |
A |
12: 98,600,559 (GRCm39) |
N57K |
probably damaging |
Het |
| Spef2 |
T |
C |
15: 9,599,897 (GRCm39) |
M1983V |
unknown |
Het |
| Srcap |
G |
T |
7: 127,121,219 (GRCm39) |
R184L |
possibly damaging |
Het |
| Tafa4 |
A |
G |
6: 96,991,429 (GRCm39) |
W7R |
probably benign |
Het |
| Tbpl2 |
A |
G |
2: 23,977,296 (GRCm39) |
S241P |
probably damaging |
Het |
| Tcaim |
A |
G |
9: 122,637,830 (GRCm39) |
|
probably null |
Het |
| Tep1 |
G |
T |
14: 51,100,465 (GRCm39) |
A351E |
probably damaging |
Het |
| Tiparp |
A |
G |
3: 65,438,701 (GRCm39) |
T6A |
probably benign |
Het |
| Tpp1 |
A |
T |
7: 105,396,714 (GRCm39) |
H434Q |
probably benign |
Het |
| Vmn2r17 |
A |
G |
5: 109,575,669 (GRCm39) |
Y180C |
probably damaging |
Het |
| Vmn2r52 |
A |
T |
7: 9,904,719 (GRCm39) |
Y373* |
probably null |
Het |
| Vwa1 |
G |
A |
4: 155,857,336 (GRCm39) |
P154L |
probably damaging |
Het |
|
| Other mutations in Tmem62 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00417:Tmem62
|
APN |
2 |
120,837,445 (GRCm39) |
splice site |
probably null |
|
|
IGL01011:Tmem62
|
APN |
2 |
120,809,700 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
IGL02125:Tmem62
|
APN |
2 |
120,826,993 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02430:Tmem62
|
APN |
2 |
120,817,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0031:Tmem62
|
UTSW |
2 |
120,829,594 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0535:Tmem62
|
UTSW |
2 |
120,833,077 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1597:Tmem62
|
UTSW |
2 |
120,814,843 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1656:Tmem62
|
UTSW |
2 |
120,837,483 (GRCm39) |
missense |
probably benign |
0.36 |
|
R1682:Tmem62
|
UTSW |
2 |
120,837,538 (GRCm39) |
missense |
probably benign |
0.32 |
|
R1702:Tmem62
|
UTSW |
2 |
120,809,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1755:Tmem62
|
UTSW |
2 |
120,814,958 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1886:Tmem62
|
UTSW |
2 |
120,817,151 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1943:Tmem62
|
UTSW |
2 |
120,817,107 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2151:Tmem62
|
UTSW |
2 |
120,817,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2419:Tmem62
|
UTSW |
2 |
120,837,586 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3034:Tmem62
|
UTSW |
2 |
120,809,605 (GRCm39) |
splice site |
probably benign |
|
|
R3782:Tmem62
|
UTSW |
2 |
120,807,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4326:Tmem62
|
UTSW |
2 |
120,810,991 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4328:Tmem62
|
UTSW |
2 |
120,810,991 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4620:Tmem62
|
UTSW |
2 |
120,826,845 (GRCm39) |
intron |
probably benign |
|
|
R5168:Tmem62
|
UTSW |
2 |
120,824,088 (GRCm39) |
missense |
probably benign |
0.16 |
|
R5625:Tmem62
|
UTSW |
2 |
120,820,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6057:Tmem62
|
UTSW |
2 |
120,807,943 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6386:Tmem62
|
UTSW |
2 |
120,829,595 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7038:Tmem62
|
UTSW |
2 |
120,824,058 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7182:Tmem62
|
UTSW |
2 |
120,835,224 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7569:Tmem62
|
UTSW |
2 |
120,837,411 (GRCm39) |
missense |
probably benign |
|
|
R7607:Tmem62
|
UTSW |
2 |
120,826,921 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7849:Tmem62
|
UTSW |
2 |
120,814,853 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8353:Tmem62
|
UTSW |
2 |
120,814,817 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8531:Tmem62
|
UTSW |
2 |
120,837,533 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8944:Tmem62
|
UTSW |
2 |
120,817,316 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9218:Tmem62
|
UTSW |
2 |
120,835,224 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9448:Tmem62
|
UTSW |
2 |
120,808,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0052:Tmem62
|
UTSW |
2 |
120,824,009 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGCCAAGCATTTAAACAGGAAGTG -3'
(R):5'- TGTTCATTTGAAAGCTGTACCTCAC -3'
Sequencing Primer
(F):5'- ACACGGGTTTCATATCGC -3'
(R):5'- CAGAATCCTCTGTATGCTTGTTAATG -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation