Incidental Mutation 'R7630:Tmem79'
| ID |
589583 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem79
|
| Ensembl Gene |
ENSMUSG00000001420 |
| Gene Name |
transmembrane protein 79 |
| Synonyms |
Matt, mattrin, 2310042N02Rik, ma, 2310074C17Rik |
| MMRRC Submission |
045691-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7630 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
88236351-88241761 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 88240768 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 60
(E60G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001456
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001451]
[ENSMUST00000001456]
[ENSMUST00000107552]
[ENSMUST00000107553]
[ENSMUST00000154381]
[ENSMUST00000177005]
[ENSMUST00000193872]
|
| AlphaFold |
Q9D709 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001451
|
| SMART Domains |
Protein: ENSMUSP00000001451
Gene: ENSMUSG00000001415
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
14 |
N/A |
INTRINSIC |
|
Pfam:EST1
|
77 |
189 |
1.1e-26 |
PFAM |
|
Pfam:EST1_DNA_bind
|
197 |
427 |
4.6e-53 |
PFAM |
|
low complexity region
|
447 |
468 |
N/A |
INTRINSIC |
|
low complexity region
|
481 |
501 |
N/A |
INTRINSIC |
|
Pfam:EST1_DNA_bind
|
611 |
745 |
3.7e-9 |
PFAM |
|
coiled coil region
|
801 |
842 |
N/A |
INTRINSIC |
|
PINc
|
856 |
979 |
3.23e-15 |
SMART |
|
low complexity region
|
990 |
999 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000001456
AA Change: E60G
PolyPhen 2
Score 0.535 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000001456
Gene: ENSMUSG00000001420
AA Change: E60G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
30 |
43 |
N/A |
INTRINSIC |
|
low complexity region
|
79 |
89 |
N/A |
INTRINSIC |
|
low complexity region
|
177 |
192 |
N/A |
INTRINSIC |
|
transmembrane domain
|
197 |
219 |
N/A |
INTRINSIC |
|
transmembrane domain
|
234 |
256 |
N/A |
INTRINSIC |
|
transmembrane domain
|
280 |
302 |
N/A |
INTRINSIC |
|
transmembrane domain
|
312 |
330 |
N/A |
INTRINSIC |
|
transmembrane domain
|
337 |
359 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107552
AA Change: E60G
PolyPhen 2
Score 0.535 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000103176
Gene: ENSMUSG00000001420
AA Change: E60G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
30 |
43 |
N/A |
INTRINSIC |
|
low complexity region
|
79 |
89 |
N/A |
INTRINSIC |
|
low complexity region
|
177 |
192 |
N/A |
INTRINSIC |
|
transmembrane domain
|
197 |
219 |
N/A |
INTRINSIC |
|
transmembrane domain
|
234 |
256 |
N/A |
INTRINSIC |
|
transmembrane domain
|
280 |
302 |
N/A |
INTRINSIC |
|
transmembrane domain
|
312 |
330 |
N/A |
INTRINSIC |
|
transmembrane domain
|
337 |
359 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107553
AA Change: E60G
PolyPhen 2
Score 0.535 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000103177
Gene: ENSMUSG00000001420
AA Change: E60G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
30 |
43 |
N/A |
INTRINSIC |
|
low complexity region
|
79 |
89 |
N/A |
INTRINSIC |
|
low complexity region
|
177 |
192 |
N/A |
INTRINSIC |
|
transmembrane domain
|
197 |
219 |
N/A |
INTRINSIC |
|
transmembrane domain
|
234 |
256 |
N/A |
INTRINSIC |
|
transmembrane domain
|
280 |
302 |
N/A |
INTRINSIC |
|
transmembrane domain
|
312 |
330 |
N/A |
INTRINSIC |
|
transmembrane domain
|
337 |
359 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154381
|
| SMART Domains |
Protein: ENSMUSP00000134809
Gene: ENSMUSG00000001418
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NCU-G1
|
2 |
72 |
5.4e-18 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177005
|
| SMART Domains |
Protein: ENSMUSP00000135398
Gene: ENSMUSG00000001418
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
35 |
N/A |
INTRINSIC |
|
Pfam:NCU-G1
|
54 |
397 |
1.1e-104 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000193872
AA Change: E60G
PolyPhen 2
Score 0.535 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000141830
Gene: ENSMUSG00000001420
AA Change: E60G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
30 |
43 |
N/A |
INTRINSIC |
|
low complexity region
|
79 |
89 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
93% (40/43) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a spontaneous mutation exhibit abnormal coat/hair pigmentation, abnormal zigzag hair morphology, and a more sparse and shiny coat than wild-type controls. Some adults display a mild irritation around the eyes. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A530084C06Rik |
G |
T |
13: 31,742,978 (GRCm39) |
R92S |
unknown |
Het |
| Agbl1 |
A |
T |
7: 76,535,904 (GRCm39) |
I1019F |
unknown |
Het |
| Arhgap15 |
A |
G |
2: 43,670,648 (GRCm39) |
T11A |
probably benign |
Het |
| Armh1 |
C |
A |
4: 117,070,938 (GRCm39) |
A396S |
probably benign |
Het |
| Atg2b |
T |
C |
12: 105,613,213 (GRCm39) |
|
probably null |
Het |
| Aup1 |
C |
A |
6: 83,031,904 (GRCm39) |
D50E |
unknown |
Het |
| Ccl25 |
A |
G |
8: 4,403,955 (GRCm39) |
Y49C |
probably damaging |
Het |
| Cnga3 |
A |
G |
1: 37,297,127 (GRCm39) |
D148G |
probably damaging |
Het |
| Cpeb3 |
A |
T |
19: 37,031,693 (GRCm39) |
F570I |
probably damaging |
Het |
| Cyp3a16 |
T |
A |
5: 145,373,120 (GRCm39) |
|
probably null |
Het |
| Eif2d |
C |
T |
1: 131,082,103 (GRCm39) |
T65M |
probably benign |
Het |
| Fryl |
T |
C |
5: 73,267,588 (GRCm39) |
I426V |
possibly damaging |
Het |
| Hgf |
T |
C |
5: 16,803,248 (GRCm39) |
S387P |
probably benign |
Het |
| Hyal6 |
T |
C |
6: 24,734,583 (GRCm39) |
V172A |
probably damaging |
Het |
| Il10ra |
T |
C |
9: 45,167,369 (GRCm39) |
D396G |
probably damaging |
Het |
| Kif26a |
A |
G |
12: 112,142,131 (GRCm39) |
D795G |
probably damaging |
Het |
| Lrrc8c |
T |
A |
5: 105,755,568 (GRCm39) |
S448T |
probably damaging |
Het |
| Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
| Notch2 |
A |
G |
3: 98,044,824 (GRCm39) |
D1582G |
possibly damaging |
Het |
| Or14c42-ps1 |
T |
C |
7: 86,211,680 (GRCm39) |
S247P |
probably damaging |
Het |
| Or1l4b |
A |
C |
2: 37,036,371 (GRCm39) |
D49A |
probably damaging |
Het |
| Osmr |
T |
C |
15: 6,846,452 (GRCm39) |
I741V |
possibly damaging |
Het |
| Plec |
C |
T |
15: 76,074,816 (GRCm39) |
|
probably null |
Het |
| Prkag3 |
A |
G |
1: 74,783,894 (GRCm39) |
F330L |
probably damaging |
Het |
| Prkn |
A |
G |
17: 11,456,455 (GRCm39) |
E93G |
probably benign |
Het |
| Rexo4 |
A |
T |
2: 26,850,622 (GRCm39) |
F247I |
probably damaging |
Het |
| Rph3a |
T |
C |
5: 121,081,113 (GRCm39) |
D628G |
probably damaging |
Het |
| Rsf1 |
GGCG |
GGCGACGGCCGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
| Rxylt1 |
T |
C |
10: 121,931,865 (GRCm39) |
I103V |
possibly damaging |
Het |
| Scnn1g |
T |
C |
7: 121,359,704 (GRCm39) |
S396P |
probably damaging |
Het |
| Slc1a5 |
G |
A |
7: 16,529,732 (GRCm39) |
V384M |
probably damaging |
Het |
| Sltm |
C |
G |
9: 70,493,955 (GRCm39) |
P802R |
possibly damaging |
Het |
| Smc4 |
CTA |
CTATA |
3: 68,925,400 (GRCm39) |
|
probably benign |
Het |
| Synpo2 |
A |
G |
3: 122,873,681 (GRCm39) |
V1154A |
probably damaging |
Het |
| Tanc2 |
T |
C |
11: 105,667,734 (GRCm39) |
V105A |
probably benign |
Het |
| Tapbp |
T |
C |
17: 34,139,318 (GRCm39) |
S105P |
probably benign |
Het |
| Txnrd2 |
A |
G |
16: 18,257,140 (GRCm39) |
D152G |
possibly damaging |
Het |
| Vcl |
T |
A |
14: 21,033,470 (GRCm39) |
L142* |
probably null |
Het |
| Vmn2r58 |
T |
C |
7: 41,513,611 (GRCm39) |
Y344C |
probably damaging |
Het |
| Vmn2r-ps117 |
A |
G |
17: 19,044,909 (GRCm39) |
D442G |
probably benign |
Het |
| Xpo6 |
A |
T |
7: 125,739,561 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Tmem79 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01314:Tmem79
|
APN |
3 |
88,239,883 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL01883:Tmem79
|
APN |
3 |
88,237,145 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02680:Tmem79
|
APN |
3 |
88,240,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
snickerdoodle
|
UTSW |
3 |
88,239,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0239:Tmem79
|
UTSW |
3 |
88,240,628 (GRCm39) |
missense |
probably benign |
|
|
R0239:Tmem79
|
UTSW |
3 |
88,240,628 (GRCm39) |
missense |
probably benign |
|
|
R0656:Tmem79
|
UTSW |
3 |
88,240,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4663:Tmem79
|
UTSW |
3 |
88,240,751 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5168:Tmem79
|
UTSW |
3 |
88,240,651 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5583:Tmem79
|
UTSW |
3 |
88,239,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7305:Tmem79
|
UTSW |
3 |
88,240,718 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7687:Tmem79
|
UTSW |
3 |
88,239,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7788:Tmem79
|
UTSW |
3 |
88,239,949 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9192:Tmem79
|
UTSW |
3 |
88,240,764 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9781:Tmem79
|
UTSW |
3 |
88,239,931 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGCACTGTAGATCAATGGGCAC -3'
(R):5'- TGACAGAACCGGAGACACTG -3'
Sequencing Primer
(F):5'- CTAACTGTCTTCTCGGGGAGCAG -3'
(R):5'- GGCCCTGCTGGACATGAAG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation