Incidental Mutation 'IGL02069:Ighm'
| ID |
185753 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ighm
|
| Ensembl Gene |
ENSMUSG00000076617 |
| Gene Name |
immunoglobulin heavy constant mu |
| Synonyms |
Igh-M, Ig mu, IgM, muH, Igh6 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.084)
|
| Stock # |
IGL02069
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
113382446-113386350 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to A
at 113384768 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
unknown
Transcript: ENSMUST00000103426
AA Change: I362F
|
| SMART Domains |
Protein: ENSMUSP00000100222
Gene: ENSMUSG00000076617
AA Change: I362F
| Domain | Start | End | E-Value | Type |
|---|
|
IG_like
|
23 |
99 |
1.94e-2 |
SMART |
|
IGc1
|
131 |
209 |
2.37e-14 |
SMART |
|
IG_like
|
241 |
315 |
1.6e-2 |
SMART |
|
IGc1
|
348 |
425 |
1.94e-33 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174942
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174996
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175007
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000177715
AA Change: I362F
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192250
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194162
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196624
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal immune system morphology and physiology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
G |
A |
7: 78,742,500 (GRCm39) |
V569M |
possibly damaging |
Het |
| Alms1 |
T |
C |
6: 85,605,805 (GRCm39) |
V2016A |
probably benign |
Het |
| Apcdd1 |
T |
A |
18: 63,083,054 (GRCm39) |
W295R |
probably damaging |
Het |
| Arid5b |
T |
A |
10: 67,933,229 (GRCm39) |
D648V |
probably damaging |
Het |
| C2cd6 |
A |
G |
1: 59,091,700 (GRCm39) |
|
probably benign |
Het |
| Cst12 |
A |
T |
2: 148,634,368 (GRCm39) |
D101V |
probably damaging |
Het |
| Cyp46a1 |
T |
A |
12: 108,312,394 (GRCm39) |
Y135N |
probably benign |
Het |
| D630045J12Rik |
T |
C |
6: 38,161,007 (GRCm39) |
S1046G |
probably damaging |
Het |
| Dhtkd1 |
A |
T |
2: 5,935,745 (GRCm39) |
Y122* |
probably null |
Het |
| Disp2 |
T |
A |
2: 118,621,161 (GRCm39) |
I631N |
possibly damaging |
Het |
| Dna2 |
A |
G |
10: 62,794,773 (GRCm39) |
I387V |
probably benign |
Het |
| Dnah7a |
A |
T |
1: 53,601,053 (GRCm39) |
|
probably benign |
Het |
| Eif2ak3 |
T |
C |
6: 70,873,949 (GRCm39) |
F954S |
probably damaging |
Het |
| Elp1 |
C |
T |
4: 56,779,731 (GRCm39) |
G560D |
probably benign |
Het |
| Fancm |
C |
A |
12: 65,122,685 (GRCm39) |
A69D |
probably benign |
Het |
| Fbxo34 |
T |
A |
14: 47,767,070 (GRCm39) |
D143E |
probably damaging |
Het |
| Fchsd1 |
G |
A |
18: 38,100,667 (GRCm39) |
R144* |
probably null |
Het |
| Fip1l1 |
A |
G |
5: 74,752,534 (GRCm39) |
D402G |
probably damaging |
Het |
| Frem1 |
A |
G |
4: 82,821,788 (GRCm39) |
S2107P |
probably damaging |
Het |
| Gm1527 |
A |
G |
3: 28,980,763 (GRCm39) |
N621S |
possibly damaging |
Het |
| Hddc2 |
G |
A |
10: 31,192,314 (GRCm39) |
D54N |
probably damaging |
Het |
| Il17d |
G |
T |
14: 57,779,972 (GRCm39) |
E165* |
probably null |
Het |
| Kmt5b |
A |
T |
19: 3,857,335 (GRCm39) |
K364M |
probably damaging |
Het |
| Ldb1 |
C |
A |
19: 46,021,617 (GRCm39) |
W390L |
possibly damaging |
Het |
| Lgmn |
T |
C |
12: 102,370,558 (GRCm39) |
E124G |
possibly damaging |
Het |
| Mroh2b |
A |
G |
15: 4,933,806 (GRCm39) |
|
probably benign |
Het |
| Pga5 |
C |
T |
19: 10,646,763 (GRCm39) |
G323S |
possibly damaging |
Het |
| Pkd1l3 |
A |
T |
8: 110,362,012 (GRCm39) |
N1018I |
probably damaging |
Het |
| Polr2b |
A |
G |
5: 77,491,044 (GRCm39) |
T962A |
probably benign |
Het |
| Ptger1 |
A |
G |
8: 84,396,086 (GRCm39) |
E381G |
probably benign |
Het |
| Sec24a |
A |
T |
11: 51,624,761 (GRCm39) |
|
probably benign |
Het |
| Serpine2 |
T |
A |
1: 79,799,129 (GRCm39) |
I42F |
possibly damaging |
Het |
| Sh3tc1 |
C |
T |
5: 35,876,339 (GRCm39) |
R122Q |
probably benign |
Het |
| Slc15a2 |
T |
C |
16: 36,579,613 (GRCm39) |
I347V |
probably benign |
Het |
| Snx4 |
T |
C |
16: 33,084,725 (GRCm39) |
Y80H |
probably damaging |
Het |
| Spata16 |
C |
A |
3: 26,786,944 (GRCm39) |
C207* |
probably null |
Het |
| Syne2 |
A |
G |
12: 75,974,186 (GRCm39) |
Q1128R |
probably benign |
Het |
| Tamalin |
A |
G |
15: 101,122,346 (GRCm39) |
Y55C |
probably damaging |
Het |
| Trpm4 |
T |
A |
7: 44,968,718 (GRCm39) |
N405I |
probably damaging |
Het |
| Upp2 |
A |
G |
2: 58,661,429 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Ighm |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01609:Ighm
|
APN |
12 |
113,384,854 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01775:Ighm
|
APN |
12 |
113,386,087 (GRCm39) |
missense |
unknown |
|
|
IGL03124:Ighm
|
APN |
12 |
113,385,258 (GRCm39) |
missense |
unknown |
|
|
Destiny
|
UTSW |
12 |
113,385,165 (GRCm39) |
missense |
|
|
|
manifest
|
UTSW |
12 |
113,384,873 (GRCm39) |
nonsense |
probably null |
|
|
G1Funyon:Ighm
|
UTSW |
12 |
113,385,165 (GRCm39) |
missense |
|
|
|
R3055:Ighm
|
UTSW |
12 |
113,382,596 (GRCm39) |
unclassified |
probably benign |
|
|
R3056:Ighm
|
UTSW |
12 |
113,382,596 (GRCm39) |
unclassified |
probably benign |
|
|
R4164:Ighm
|
UTSW |
12 |
113,385,915 (GRCm39) |
missense |
unknown |
|
|
R4475:Ighm
|
UTSW |
12 |
113,384,513 (GRCm39) |
unclassified |
probably benign |
|
|
R4871:Ighm
|
UTSW |
12 |
113,385,241 (GRCm39) |
missense |
unknown |
|
|
R5542:Ighm
|
UTSW |
12 |
113,382,601 (GRCm39) |
unclassified |
probably benign |
|
|
R5738:Ighm
|
UTSW |
12 |
113,385,115 (GRCm39) |
missense |
unknown |
|
|
R5856:Ighm
|
UTSW |
12 |
113,385,222 (GRCm39) |
missense |
unknown |
|
|
R5946:Ighm
|
UTSW |
12 |
113,386,329 (GRCm39) |
missense |
unknown |
|
|
R6267:Ighm
|
UTSW |
12 |
113,385,187 (GRCm39) |
missense |
unknown |
|
|
R6296:Ighm
|
UTSW |
12 |
113,385,187 (GRCm39) |
missense |
unknown |
|
|
R7409:Ighm
|
UTSW |
12 |
113,385,852 (GRCm39) |
missense |
|
|
|
R7492:Ighm
|
UTSW |
12 |
113,386,293 (GRCm39) |
missense |
|
|
|
R7898:Ighm
|
UTSW |
12 |
113,384,873 (GRCm39) |
nonsense |
probably null |
|
|
R8089:Ighm
|
UTSW |
12 |
113,384,854 (GRCm39) |
unclassified |
probably benign |
|
|
R8301:Ighm
|
UTSW |
12 |
113,385,165 (GRCm39) |
missense |
|
|
|
R8444:Ighm
|
UTSW |
12 |
113,384,813 (GRCm39) |
missense |
|
|
|
R9378:Ighm
|
UTSW |
12 |
113,386,210 (GRCm39) |
missense |
|
|
|
R9447:Ighm
|
UTSW |
12 |
113,384,794 (GRCm39) |
missense |
|
|
|
R9674:Ighm
|
UTSW |
12 |
113,385,139 (GRCm39) |
missense |
|
|
|
R9733:Ighm
|
UTSW |
12 |
113,386,097 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9803:Ighm
|
UTSW |
12 |
113,382,635 (GRCm39) |
missense |
|
|
|
| Posted On |
2014-05-07 |
Incidental Mutation