Incidental Mutation 'R0656:Tmem79'
ID |
62540 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmem79
|
Ensembl Gene |
ENSMUSG00000001420 |
Gene Name |
transmembrane protein 79 |
Synonyms |
Matt, mattrin, 2310042N02Rik, ma, 2310074C17Rik |
MMRRC Submission |
038841-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0656 (G1)
|
Quality Score |
92 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
88236351-88241761 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 88240241 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 236
(T236A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103177
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001451]
[ENSMUST00000001454]
[ENSMUST00000001456]
[ENSMUST00000107552]
[ENSMUST00000107553]
[ENSMUST00000154381]
[ENSMUST00000177005]
[ENSMUST00000176425]
[ENSMUST00000176519]
[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 |
probably benign
Transcript: ENSMUST00000001454
|
SMART Domains |
Protein: ENSMUSP00000001454 Gene: ENSMUSG00000001418
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
35 |
N/A |
INTRINSIC |
Pfam:NCU-G1
|
53 |
130 |
2.7e-26 |
PFAM |
Pfam:NCU-G1
|
124 |
333 |
4.8e-77 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000001456
AA Change: T236A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000001456 Gene: ENSMUSG00000001420 AA Change: T236A
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 damaging
Transcript: ENSMUST00000107552
AA Change: T236A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000103176 Gene: ENSMUSG00000001420 AA Change: T236A
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 damaging
Transcript: ENSMUST00000107553
AA Change: T236A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000103177 Gene: ENSMUSG00000001420 AA Change: T236A
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 |
noncoding transcript
Transcript: ENSMUST00000140039
|
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 |
noncoding transcript
Transcript: ENSMUST00000194942
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193646
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192057
|
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 |
probably benign
Transcript: ENSMUST00000176425
|
SMART Domains |
Protein: ENSMUSP00000135575 Gene: ENSMUSG00000001418
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
35 |
N/A |
INTRINSIC |
Pfam:NCU-G1
|
37 |
314 |
3.3e-94 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176519
|
SMART Domains |
Protein: ENSMUSP00000135263 Gene: ENSMUSG00000001418
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
35 |
N/A |
INTRINSIC |
Pfam:NCU-G1
|
53 |
125 |
4.7e-26 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000193872
|
SMART Domains |
Protein: ENSMUSP00000141830 Gene: ENSMUSG00000001420
Domain | Start | End | E-Value | Type |
low complexity region
|
30 |
43 |
N/A |
INTRINSIC |
low complexity region
|
79 |
89 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.4886 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.3%
- 20x: 94.2%
|
Validation Efficiency |
98% (92/94) |
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930533K18Rik |
T |
A |
10: 70,704,630 (GRCm39) |
|
noncoding transcript |
Het |
Alox5 |
A |
G |
6: 116,400,291 (GRCm39) |
|
probably benign |
Het |
Anxa11 |
T |
A |
14: 25,874,421 (GRCm39) |
D203E |
probably damaging |
Het |
Atp12a |
A |
T |
14: 56,611,938 (GRCm39) |
N371Y |
probably damaging |
Het |
Bloc1s6 |
A |
G |
2: 122,584,543 (GRCm39) |
I39M |
probably benign |
Het |
Celsr3 |
A |
C |
9: 108,711,854 (GRCm39) |
I1688L |
possibly damaging |
Het |
Cgn |
T |
C |
3: 94,682,204 (GRCm39) |
|
probably benign |
Het |
Chd4 |
A |
T |
6: 125,079,930 (GRCm39) |
I453F |
probably damaging |
Het |
Dbnl |
A |
G |
11: 5,747,321 (GRCm39) |
T247A |
probably benign |
Het |
Dpysl3 |
T |
C |
18: 43,571,136 (GRCm39) |
E46G |
possibly damaging |
Het |
Dsg1a |
T |
C |
18: 20,468,949 (GRCm39) |
|
probably benign |
Het |
Fbp1 |
C |
T |
13: 63,019,099 (GRCm39) |
E150K |
probably benign |
Het |
Flnb |
T |
A |
14: 7,927,352 (GRCm38) |
L1854Q |
probably damaging |
Het |
Gcn1 |
C |
T |
5: 115,727,362 (GRCm39) |
T714M |
probably benign |
Het |
Gm12216 |
A |
T |
11: 53,704,162 (GRCm39) |
|
probably benign |
Het |
Gpr82 |
T |
C |
X: 13,531,829 (GRCm39) |
S126P |
probably benign |
Het |
Hmbs |
T |
A |
9: 44,248,657 (GRCm39) |
H256L |
probably benign |
Het |
Ibsp |
A |
T |
5: 104,457,886 (GRCm39) |
|
probably null |
Het |
Ints13 |
A |
G |
6: 146,453,959 (GRCm39) |
V240A |
probably benign |
Het |
Iqca1l |
C |
T |
5: 24,754,760 (GRCm39) |
V337M |
possibly damaging |
Het |
Kalrn |
T |
C |
16: 33,852,837 (GRCm39) |
D343G |
probably damaging |
Het |
Kin |
T |
C |
2: 10,090,531 (GRCm39) |
|
probably benign |
Het |
Klhdc1 |
T |
C |
12: 69,304,804 (GRCm39) |
V192A |
probably benign |
Het |
Lpar3 |
T |
A |
3: 145,946,426 (GRCm39) |
C35S |
possibly damaging |
Het |
Lrrtm4 |
A |
G |
6: 79,998,953 (GRCm39) |
I122V |
possibly damaging |
Het |
Mfsd13a |
C |
T |
19: 46,354,943 (GRCm39) |
T40I |
probably benign |
Het |
Mgat4c |
T |
C |
10: 102,224,452 (GRCm39) |
M222T |
probably damaging |
Het |
Muc4 |
C |
A |
16: 32,570,488 (GRCm39) |
S516Y |
possibly damaging |
Het |
Myo1e |
A |
T |
9: 70,274,956 (GRCm39) |
Q703L |
probably damaging |
Het |
Neb |
A |
G |
2: 52,115,570 (GRCm39) |
|
probably benign |
Het |
Necab3 |
T |
G |
2: 154,388,223 (GRCm39) |
E239A |
probably null |
Het |
Npr1 |
G |
T |
3: 90,368,676 (GRCm39) |
N461K |
probably benign |
Het |
Or4k44 |
T |
C |
2: 111,367,972 (GRCm39) |
I221V |
probably damaging |
Het |
Pcdhb2 |
A |
G |
18: 37,428,543 (GRCm39) |
Y172C |
probably damaging |
Het |
Pcdhb7 |
A |
G |
18: 37,474,954 (GRCm39) |
D30G |
probably benign |
Het |
Phf12 |
A |
C |
11: 77,920,158 (GRCm39) |
Q898P |
probably benign |
Het |
Plekhn1 |
T |
C |
4: 156,309,821 (GRCm39) |
E132G |
possibly damaging |
Het |
Ptpn3 |
A |
G |
4: 57,270,075 (GRCm39) |
V29A |
probably benign |
Het |
Rundc3b |
T |
A |
5: 8,619,529 (GRCm39) |
I143F |
probably damaging |
Het |
Ryr3 |
T |
G |
2: 112,478,651 (GRCm39) |
|
probably benign |
Het |
Sash1 |
A |
G |
10: 8,626,901 (GRCm39) |
|
probably null |
Het |
Slc4a2 |
A |
G |
5: 24,636,257 (GRCm39) |
D201G |
probably benign |
Het |
Tecpr1 |
T |
A |
5: 144,150,871 (GRCm39) |
|
probably null |
Het |
Timm21 |
T |
C |
18: 84,967,326 (GRCm39) |
H150R |
probably damaging |
Het |
Usp34 |
G |
T |
11: 23,422,967 (GRCm39) |
V3095F |
probably damaging |
Het |
Vmn1r8 |
A |
T |
6: 57,013,573 (GRCm39) |
Q208L |
probably benign |
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 |
|
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 |
R7630:Tmem79
|
UTSW |
3 |
88,240,768 (GRCm39) |
missense |
possibly damaging |
0.54 |
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'- TTCAGGATACCCTGAGTGGTTCCAG -3'
(R):5'- GATCTACAGTGCATCGAGCGGAAG -3'
Sequencing Primer
(F):5'- CTGAGTGGTTCCAGCAGAATG -3'
(R):5'- GAATTTCCTGCCAGCTCGAC -3'
|
Posted On |
2013-07-30 |