Incidental Mutation 'IGL02680:Tmem79'
ID |
303334 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tmem79
|
Ensembl Gene |
ENSMUSG00000001420 |
Gene Name |
transmembrane protein 79 |
Synonyms |
Matt, mattrin, 2310042N02Rik, ma, 2310074C17Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02680
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
88236351-88241761 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 88240270 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 226
(L226P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103177
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001451]
[ENSMUST00000001454]
[ENSMUST00000001456]
[ENSMUST00000107552]
[ENSMUST00000107553]
[ENSMUST00000154381]
[ENSMUST00000176425]
[ENSMUST00000177005]
[ENSMUST00000193872]
[ENSMUST00000176519]
|
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: L226P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000001456 Gene: ENSMUSG00000001420 AA Change: L226P
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: L226P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000103176 Gene: ENSMUSG00000001420 AA Change: L226P
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: L226P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000103177 Gene: ENSMUSG00000001420 AA Change: L226P
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: ENSMUST00000192057
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194942
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193646
|
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: 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: 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 |
|
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921524L21Rik |
T |
A |
18: 6,635,949 (GRCm39) |
|
probably benign |
Het |
Aldh1a3 |
C |
A |
7: 66,055,895 (GRCm39) |
V299F |
probably damaging |
Het |
Ankar |
A |
G |
1: 72,709,275 (GRCm39) |
Y747H |
probably damaging |
Het |
Armc9 |
T |
C |
1: 86,180,000 (GRCm39) |
I107T |
probably damaging |
Het |
Atmin |
A |
T |
8: 117,684,236 (GRCm39) |
D632V |
probably damaging |
Het |
Atp5pd |
C |
A |
11: 115,306,840 (GRCm39) |
|
probably null |
Het |
Cadps2 |
T |
C |
6: 23,838,895 (GRCm39) |
E81G |
probably damaging |
Het |
Cep162 |
A |
G |
9: 87,128,797 (GRCm39) |
V67A |
possibly damaging |
Het |
Cfap100 |
C |
T |
6: 90,389,217 (GRCm39) |
V335I |
probably benign |
Het |
Dmtf1 |
A |
T |
5: 9,180,381 (GRCm39) |
D181E |
probably benign |
Het |
Efcab14 |
T |
A |
4: 115,597,615 (GRCm39) |
I70N |
probably damaging |
Het |
Frzb |
T |
C |
2: 80,254,970 (GRCm39) |
T189A |
possibly damaging |
Het |
Fstl3 |
G |
A |
10: 79,614,506 (GRCm39) |
W69* |
probably null |
Het |
Gjb3 |
C |
T |
4: 127,219,815 (GRCm39) |
C239Y |
probably damaging |
Het |
Ifna1 |
A |
G |
4: 88,768,523 (GRCm39) |
D67G |
probably benign |
Het |
Inpp5d |
A |
G |
1: 87,629,205 (GRCm39) |
T397A |
possibly damaging |
Het |
Myh11 |
G |
T |
16: 14,027,384 (GRCm39) |
H1283Q |
probably benign |
Het |
Naip6 |
A |
G |
13: 100,420,256 (GRCm39) |
V1338A |
probably benign |
Het |
Obscn |
A |
G |
11: 58,890,846 (GRCm39) |
S7229P |
unknown |
Het |
Or1l4b |
A |
T |
2: 37,036,427 (GRCm39) |
I68F |
probably damaging |
Het |
Pfkp |
G |
A |
13: 6,650,708 (GRCm39) |
|
probably benign |
Het |
Pop1 |
T |
A |
15: 34,502,619 (GRCm39) |
I102K |
probably damaging |
Het |
Ppp1r21 |
A |
G |
17: 88,891,290 (GRCm39) |
M732V |
probably benign |
Het |
Rsc1a1 |
A |
G |
4: 141,412,408 (GRCm39) |
V168A |
probably benign |
Het |
Scd2 |
G |
A |
19: 44,289,685 (GRCm39) |
V227I |
probably benign |
Het |
Scn10a |
T |
A |
9: 119,495,125 (GRCm39) |
Y372F |
probably damaging |
Het |
Slc35c2 |
G |
T |
2: 165,124,055 (GRCm39) |
T94K |
probably damaging |
Het |
Slc41a2 |
A |
G |
10: 83,119,728 (GRCm39) |
Y345H |
probably benign |
Het |
Slc5a11 |
T |
C |
7: 122,864,854 (GRCm39) |
S387P |
probably damaging |
Het |
Smg7 |
T |
A |
1: 152,721,145 (GRCm39) |
N727I |
probably benign |
Het |
Steap2 |
A |
T |
5: 5,723,474 (GRCm39) |
F469I |
probably benign |
Het |
Tex2 |
T |
A |
11: 106,459,058 (GRCm39) |
|
probably benign |
Het |
Tnfrsf14 |
G |
T |
4: 155,008,927 (GRCm39) |
C165* |
probably null |
Het |
Trim21 |
A |
G |
7: 102,208,870 (GRCm39) |
V283A |
probably benign |
Het |
Vmn2r16 |
A |
T |
5: 109,487,948 (GRCm39) |
M274L |
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 |
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 |
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 |
|
Posted On |
2015-04-16 |