Incidental Mutation 'IGL02023:Mgat4c'
| ID |
184051 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mgat4c
|
| Ensembl Gene |
ENSMUSG00000019888 |
| Gene Name |
MGAT4 family, member C |
| Synonyms |
9130411I17Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02023
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
101517348-102227330 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 102214045 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 9
(Y9*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151859
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020039]
[ENSMUST00000120748]
[ENSMUST00000127504]
[ENSMUST00000138016]
[ENSMUST00000138522]
[ENSMUST00000156751]
[ENSMUST00000179929]
[ENSMUST00000163753]
[ENSMUST00000219195]
|
| AlphaFold |
Q9D306 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000020039
AA Change: Y9*
|
| SMART Domains |
Protein: ENSMUSP00000020039
Gene: ENSMUSG00000019888
AA Change: Y9*
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
26 |
43 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_54
|
44 |
330 |
5.3e-112 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000120748
AA Change: Y9*
|
| SMART Domains |
Protein: ENSMUSP00000114010
Gene: ENSMUSG00000019888
AA Change: Y9*
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
26 |
43 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_54
|
44 |
330 |
5.3e-112 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000127504
AA Change: Y9*
|
| SMART Domains |
Protein: ENSMUSP00000117148
Gene: ENSMUSG00000019888
AA Change: Y9*
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
26 |
43 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134930
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000138016
AA Change: Y9*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000138522
AA Change: Y9*
|
| SMART Domains |
Protein: ENSMUSP00000118056
Gene: ENSMUSG00000019888
AA Change: Y9*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
38 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_54
|
43 |
150 |
1.5e-22 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000156751
AA Change: Y9*
|
| SMART Domains |
Protein: ENSMUSP00000116216
Gene: ENSMUSG00000019888
AA Change: Y9*
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
26 |
43 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000179929
AA Change: Y9*
|
| SMART Domains |
Protein: ENSMUSP00000135959
Gene: ENSMUSG00000019888
AA Change: Y9*
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
26 |
43 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_54
|
52 |
330 |
1.1e-96 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000163753
AA Change: Y9*
|
| SMART Domains |
Protein: ENSMUSP00000131551
Gene: ENSMUSG00000019888
AA Change: Y9*
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
26 |
43 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_54
|
44 |
330 |
5.3e-112 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000219195
AA Change: Y9*
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218984
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
T |
C |
11: 109,953,942 (GRCm39) |
K833E |
probably benign |
Het |
| Adam29 |
T |
C |
8: 56,325,519 (GRCm39) |
I312V |
probably benign |
Het |
| Adcy8 |
T |
A |
15: 64,694,069 (GRCm39) |
I403F |
probably damaging |
Het |
| Ahcyl1 |
A |
T |
3: 107,575,010 (GRCm39) |
N444K |
probably damaging |
Het |
| Ang4 |
T |
C |
14: 52,001,511 (GRCm39) |
|
probably benign |
Het |
| Atf6b |
T |
C |
17: 34,870,841 (GRCm39) |
V401A |
possibly damaging |
Het |
| Atp7a |
A |
T |
X: 105,138,588 (GRCm39) |
I604F |
probably damaging |
Het |
| Cd151 |
T |
C |
7: 141,050,370 (GRCm39) |
Y202H |
probably damaging |
Het |
| Cd99l2 |
A |
T |
X: 70,493,552 (GRCm39) |
N64K |
possibly damaging |
Het |
| Cog7 |
C |
T |
7: 121,543,000 (GRCm39) |
|
probably null |
Het |
| Decr2 |
A |
T |
17: 26,306,354 (GRCm39) |
M94K |
probably benign |
Het |
| Dock11 |
A |
T |
X: 35,232,422 (GRCm39) |
H188L |
probably benign |
Het |
| Dscam |
T |
C |
16: 96,602,397 (GRCm39) |
S682G |
probably benign |
Het |
| Efcab3 |
A |
T |
11: 104,612,258 (GRCm39) |
|
probably benign |
Het |
| Gja3 |
G |
T |
14: 57,273,136 (GRCm39) |
P412Q |
probably damaging |
Het |
| Glrb |
T |
C |
3: 80,758,262 (GRCm39) |
N333D |
probably benign |
Het |
| Gpr65 |
T |
A |
12: 98,242,127 (GRCm39) |
V260D |
probably benign |
Het |
| Hormad1 |
A |
G |
3: 95,485,604 (GRCm39) |
E264G |
possibly damaging |
Het |
| Hsph1 |
T |
C |
5: 149,557,324 (GRCm39) |
R46G |
probably damaging |
Het |
| Hycc2 |
G |
A |
1: 58,569,274 (GRCm39) |
A435V |
possibly damaging |
Het |
| Iars1 |
A |
G |
13: 49,841,725 (GRCm39) |
Y71C |
probably damaging |
Het |
| Lsg1 |
T |
C |
16: 30,404,494 (GRCm39) |
H35R |
probably damaging |
Het |
| Mfge8 |
C |
T |
7: 78,794,985 (GRCm39) |
|
probably benign |
Het |
| Mpdz |
A |
T |
4: 81,247,766 (GRCm39) |
I1074N |
probably damaging |
Het |
| Muc19 |
T |
C |
15: 91,772,453 (GRCm39) |
|
noncoding transcript |
Het |
| Nbea |
A |
T |
3: 55,588,437 (GRCm39) |
M2434K |
probably damaging |
Het |
| Ncoa2 |
A |
G |
1: 13,245,078 (GRCm39) |
L540P |
probably damaging |
Het |
| Nhsl2 |
A |
G |
X: 101,121,858 (GRCm39) |
R554G |
probably damaging |
Het |
| Npdc1 |
T |
A |
2: 25,298,032 (GRCm39) |
|
probably benign |
Het |
| Or2aj6 |
A |
T |
16: 19,443,158 (GRCm39) |
S231T |
probably benign |
Het |
| Osbpl10 |
T |
A |
9: 115,055,790 (GRCm39) |
V654D |
probably damaging |
Het |
| Plxna1 |
C |
A |
6: 89,334,314 (GRCm39) |
G105V |
possibly damaging |
Het |
| Pnma8b |
T |
C |
7: 16,679,616 (GRCm39) |
V200A |
probably damaging |
Het |
| Ppard |
A |
G |
17: 28,517,871 (GRCm39) |
H313R |
probably benign |
Het |
| Rasgrp4 |
T |
C |
7: 28,838,335 (GRCm39) |
L103P |
probably damaging |
Het |
| Rigi |
A |
G |
4: 40,216,487 (GRCm39) |
Y504H |
possibly damaging |
Het |
| Ripk4 |
A |
T |
16: 97,556,431 (GRCm39) |
L104Q |
probably damaging |
Het |
| Setd2 |
T |
C |
9: 110,423,704 (GRCm39) |
V2253A |
probably benign |
Het |
| Setdb2 |
A |
G |
14: 59,668,607 (GRCm39) |
S43P |
probably damaging |
Het |
| Stab2 |
C |
A |
10: 86,707,695 (GRCm39) |
G1742V |
possibly damaging |
Het |
| Timm23 |
A |
G |
14: 31,915,804 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
C |
2: 76,615,999 (GRCm39) |
N14902S |
possibly damaging |
Het |
| Ush2a |
A |
G |
1: 188,465,711 (GRCm39) |
T2760A |
probably benign |
Het |
| Vmn2r25 |
T |
C |
6: 123,816,388 (GRCm39) |
N398D |
probably damaging |
Het |
|
| Other mutations in Mgat4c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00235:Mgat4c
|
APN |
10 |
102,224,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01293:Mgat4c
|
APN |
10 |
102,224,086 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01394:Mgat4c
|
APN |
10 |
102,220,975 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
IGL01525:Mgat4c
|
APN |
10 |
102,214,057 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02150:Mgat4c
|
APN |
10 |
102,224,983 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL02296:Mgat4c
|
APN |
10 |
102,221,021 (GRCm39) |
splice site |
probably benign |
|
|
IGL02946:Mgat4c
|
APN |
10 |
102,225,114 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL03062:Mgat4c
|
APN |
10 |
102,224,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0001:Mgat4c
|
UTSW |
10 |
102,224,817 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0326:Mgat4c
|
UTSW |
10 |
102,224,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0480:Mgat4c
|
UTSW |
10 |
102,224,980 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0656:Mgat4c
|
UTSW |
10 |
102,224,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0746:Mgat4c
|
UTSW |
10 |
102,224,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1639:Mgat4c
|
UTSW |
10 |
102,214,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1989:Mgat4c
|
UTSW |
10 |
102,214,020 (GRCm39) |
start codon destroyed |
probably null |
0.66 |
|
R2148:Mgat4c
|
UTSW |
10 |
102,224,790 (GRCm39) |
missense |
probably benign |
|
|
R2437:Mgat4c
|
UTSW |
10 |
102,224,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2567:Mgat4c
|
UTSW |
10 |
102,214,123 (GRCm39) |
missense |
probably benign |
0.38 |
|
R3780:Mgat4c
|
UTSW |
10 |
102,224,782 (GRCm39) |
missense |
probably benign |
0.25 |
|
R3781:Mgat4c
|
UTSW |
10 |
102,224,782 (GRCm39) |
missense |
probably benign |
0.25 |
|
R3782:Mgat4c
|
UTSW |
10 |
102,224,782 (GRCm39) |
missense |
probably benign |
0.25 |
|
R3786:Mgat4c
|
UTSW |
10 |
102,220,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3806:Mgat4c
|
UTSW |
10 |
102,224,221 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4596:Mgat4c
|
UTSW |
10 |
102,224,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4718:Mgat4c
|
UTSW |
10 |
102,224,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4740:Mgat4c
|
UTSW |
10 |
102,224,265 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4872:Mgat4c
|
UTSW |
10 |
102,224,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5305:Mgat4c
|
UTSW |
10 |
102,225,140 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5740:Mgat4c
|
UTSW |
10 |
102,225,182 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R5841:Mgat4c
|
UTSW |
10 |
102,224,826 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6367:Mgat4c
|
UTSW |
10 |
102,221,015 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6459:Mgat4c
|
UTSW |
10 |
102,220,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7021:Mgat4c
|
UTSW |
10 |
102,224,289 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7122:Mgat4c
|
UTSW |
10 |
102,214,070 (GRCm39) |
nonsense |
probably null |
|
|
R7146:Mgat4c
|
UTSW |
10 |
102,224,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7629:Mgat4c
|
UTSW |
10 |
102,224,931 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7877:Mgat4c
|
UTSW |
10 |
102,220,900 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8829:Mgat4c
|
UTSW |
10 |
102,214,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8872:Mgat4c
|
UTSW |
10 |
102,224,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9181:Mgat4c
|
UTSW |
10 |
102,225,123 (GRCm39) |
missense |
probably benign |
0.14 |
|
RF020:Mgat4c
|
UTSW |
10 |
102,224,928 (GRCm39) |
missense |
probably benign |
|
|
X0020:Mgat4c
|
UTSW |
10 |
102,224,251 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
Z1177:Mgat4c
|
UTSW |
10 |
102,224,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Mgat4c
|
UTSW |
10 |
102,224,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-05-07 |
Incidental Mutation