Incidental Mutation 'R8253:Tmem145'
| ID |
640127 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem145
|
| Ensembl Gene |
ENSMUSG00000043843 |
| Gene Name |
transmembrane protein 145 |
| Synonyms |
B930076A02Rik |
| MMRRC Submission |
067679-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.102)
|
| Stock # |
R8253 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
25005531-25015620 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 25006939 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Aspartic acid
at position 114
(Y114D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104046
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080288]
[ENSMUST00000108409]
[ENSMUST00000119703]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080288
|
| SMART Domains |
Protein: ENSMUSP00000104047
Gene: ENSMUSG00000058741
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pro-rich_19
|
1 |
366 |
3.3e-196 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108409
AA Change: Y114D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000104046
Gene: ENSMUSG00000043843
AA Change: Y114D
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
Pfam:GpcrRhopsn4
|
157 |
411 |
7.5e-81 |
PFAM |
|
low complexity region
|
486 |
503 |
N/A |
INTRINSIC |
|
low complexity region
|
505 |
516 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000119703
AA Change: Y114D
PolyPhen 2
Score 0.720 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000112676
Gene: ENSMUSG00000043843
AA Change: Y114D
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
Pfam:GpcrRhopsn4
|
143 |
397 |
4.3e-81 |
PFAM |
|
low complexity region
|
478 |
493 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit progressive hearing impairment. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afap1l1 |
T |
C |
18: 61,874,702 (GRCm39) |
E493G |
probably benign |
Het |
| Akr1a1 |
A |
T |
4: 116,493,840 (GRCm39) |
D313E |
probably damaging |
Het |
| Ap1m1 |
T |
A |
8: 73,006,730 (GRCm39) |
V242E |
probably damaging |
Het |
| Atad2b |
T |
A |
12: 5,024,159 (GRCm39) |
S670T |
possibly damaging |
Het |
| Atad2b |
C |
T |
12: 5,024,160 (GRCm39) |
S670L |
probably benign |
Het |
| Atp23 |
C |
T |
10: 126,704,543 (GRCm39) |
G197S |
probably benign |
Het |
| Avpr1b |
A |
T |
1: 131,537,154 (GRCm39) |
T313S |
probably benign |
Het |
| Cblc |
A |
G |
7: 19,520,157 (GRCm39) |
I362T |
probably damaging |
Het |
| Ccdc171 |
T |
A |
4: 83,661,207 (GRCm39) |
S1106T |
probably damaging |
Het |
| Cimap3 |
T |
C |
3: 105,905,683 (GRCm39) |
M193V |
probably benign |
Het |
| Csde1 |
C |
A |
3: 102,946,037 (GRCm39) |
N10K |
probably damaging |
Het |
| Csnk2a2 |
T |
C |
8: 96,215,005 (GRCm39) |
Y24C |
|
Het |
| Cyb5r4 |
G |
T |
9: 86,941,108 (GRCm39) |
L420F |
probably damaging |
Het |
| Cyth4 |
A |
G |
15: 78,486,937 (GRCm39) |
I22V |
probably benign |
Het |
| Dnah8 |
CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT |
CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT |
17: 30,979,841 (GRCm39) |
|
probably null |
Het |
| Dner |
C |
T |
1: 84,512,598 (GRCm39) |
G323E |
probably damaging |
Het |
| Elf1 |
T |
C |
14: 79,773,792 (GRCm39) |
M1T |
probably null |
Het |
| Fam13c |
T |
C |
10: 70,389,033 (GRCm39) |
S520P |
probably damaging |
Het |
| Fhip1b |
T |
A |
7: 105,028,294 (GRCm39) |
H885L |
possibly damaging |
Het |
| Gabra2 |
A |
G |
5: 71,249,413 (GRCm39) |
I30T |
probably benign |
Het |
| Gm6793 |
T |
A |
8: 112,741,640 (GRCm39) |
M1L |
probably benign |
Het |
| Inpp5a |
T |
C |
7: 139,061,556 (GRCm39) |
L76P |
probably damaging |
Het |
| Itih5 |
T |
C |
2: 10,243,406 (GRCm39) |
I381T |
probably benign |
Het |
| Lyrm7 |
T |
C |
11: 54,741,227 (GRCm39) |
I36V |
probably null |
Het |
| Magi2 |
A |
G |
5: 20,814,305 (GRCm39) |
I906V |
probably benign |
Het |
| Mup5 |
C |
T |
4: 61,752,811 (GRCm39) |
A71T |
probably benign |
Het |
| Ndufaf6 |
G |
A |
4: 11,059,086 (GRCm39) |
R248W |
probably damaging |
Het |
| Or52z14 |
A |
T |
7: 103,253,538 (GRCm39) |
I226L |
possibly damaging |
Het |
| Or5p50 |
A |
G |
7: 107,421,776 (GRCm39) |
I300T |
probably damaging |
Het |
| Palm |
A |
T |
10: 79,643,511 (GRCm39) |
K80* |
probably null |
Het |
| Pcyox1 |
C |
T |
6: 86,366,044 (GRCm39) |
R390K |
probably benign |
Het |
| Pdx1 |
T |
C |
5: 147,207,459 (GRCm39) |
|
probably null |
Het |
| Pkp2 |
T |
A |
16: 16,086,406 (GRCm39) |
V689D |
probably damaging |
Het |
| Prkar2a |
G |
T |
9: 108,617,638 (GRCm39) |
R232L |
probably damaging |
Het |
| Rasgrp4 |
C |
T |
7: 28,838,287 (GRCm39) |
T87M |
possibly damaging |
Het |
| Ryr2 |
T |
A |
13: 11,842,439 (GRCm39) |
Q486L |
possibly damaging |
Het |
| Shd |
T |
C |
17: 56,283,295 (GRCm39) |
V309A |
|
Het |
| Skint7 |
C |
T |
4: 111,834,675 (GRCm39) |
Q20* |
probably null |
Het |
| Slc35g1 |
C |
A |
19: 38,391,237 (GRCm39) |
T173K |
probably damaging |
Het |
| Slit2 |
T |
C |
5: 48,433,013 (GRCm39) |
F1073L |
probably benign |
Het |
| Snx18 |
T |
A |
13: 113,731,317 (GRCm39) |
D559V |
probably damaging |
Het |
| Tbr1 |
G |
T |
2: 61,635,585 (GRCm39) |
Q178H |
probably benign |
Het |
| Ttc22 |
T |
C |
4: 106,495,717 (GRCm39) |
L357P |
probably damaging |
Het |
| Uba2 |
T |
C |
7: 33,850,323 (GRCm39) |
M377V |
probably damaging |
Het |
| Vps13c |
T |
A |
9: 67,850,770 (GRCm39) |
Y2242* |
probably null |
Het |
| Xdh |
T |
G |
17: 74,225,377 (GRCm39) |
Q475P |
possibly damaging |
Het |
| Zbtb42 |
T |
G |
12: 112,646,746 (GRCm39) |
L307R |
probably damaging |
Het |
|
| Other mutations in Tmem145 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00926:Tmem145
|
APN |
7 |
25,014,155 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL00958:Tmem145
|
APN |
7 |
25,006,782 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01347:Tmem145
|
APN |
7 |
25,014,260 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01936:Tmem145
|
APN |
7 |
25,010,816 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02526:Tmem145
|
APN |
7 |
25,007,657 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL02686:Tmem145
|
APN |
7 |
25,014,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03182:Tmem145
|
APN |
7 |
25,014,304 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0087:Tmem145
|
UTSW |
7 |
25,007,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0180:Tmem145
|
UTSW |
7 |
25,014,124 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0329:Tmem145
|
UTSW |
7 |
25,008,099 (GRCm39) |
splice site |
probably benign |
|
|
R0504:Tmem145
|
UTSW |
7 |
25,010,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1488:Tmem145
|
UTSW |
7 |
25,006,860 (GRCm39) |
splice site |
probably null |
|
|
R1681:Tmem145
|
UTSW |
7 |
25,014,159 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2352:Tmem145
|
UTSW |
7 |
25,005,598 (GRCm39) |
missense |
probably benign |
|
|
R3834:Tmem145
|
UTSW |
7 |
25,010,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4175:Tmem145
|
UTSW |
7 |
25,008,218 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4414:Tmem145
|
UTSW |
7 |
25,006,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4485:Tmem145
|
UTSW |
7 |
25,006,587 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R4631:Tmem145
|
UTSW |
7 |
25,007,250 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4983:Tmem145
|
UTSW |
7 |
25,008,027 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4999:Tmem145
|
UTSW |
7 |
25,008,459 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5772:Tmem145
|
UTSW |
7 |
25,015,039 (GRCm39) |
missense |
probably benign |
0.21 |
|
R5821:Tmem145
|
UTSW |
7 |
25,014,946 (GRCm39) |
missense |
probably benign |
0.30 |
|
R5909:Tmem145
|
UTSW |
7 |
25,007,618 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6021:Tmem145
|
UTSW |
7 |
25,008,270 (GRCm39) |
splice site |
probably null |
|
|
R6430:Tmem145
|
UTSW |
7 |
25,008,463 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R6768:Tmem145
|
UTSW |
7 |
25,008,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6778:Tmem145
|
UTSW |
7 |
25,010,801 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7428:Tmem145
|
UTSW |
7 |
25,006,590 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7536:Tmem145
|
UTSW |
7 |
25,007,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7748:Tmem145
|
UTSW |
7 |
25,006,753 (GRCm39) |
nonsense |
probably null |
|
|
R7826:Tmem145
|
UTSW |
7 |
25,006,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8441:Tmem145
|
UTSW |
7 |
25,008,200 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R9129:Tmem145
|
UTSW |
7 |
25,014,265 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R9277:Tmem145
|
UTSW |
7 |
25,009,165 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9297:Tmem145
|
UTSW |
7 |
25,008,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Tmem145
|
UTSW |
7 |
25,009,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTGACGACCCATCCCAGTG -3'
(R):5'- GCTGAGTGCGATATACCACCATC -3'
Sequencing Primer
(F):5'- TGGCCAGCGGTGTACAAG -3'
(R):5'- GAGTGCGATATACCACCATCTTTCAC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation