Incidental Mutation 'IGL01775:Ighm'
ID |
154074 |
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 # |
IGL01775
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
113382446-113386350 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 113386087 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 88
(C88S)
|
Gene Model |
predicted gene model for transcript(s):
|
AlphaFold |
no structure available at present |
Predicted Effect |
unknown
Transcript: ENSMUST00000103426
AA Change: C88S
|
SMART Domains |
Protein: ENSMUSP00000100222 Gene: ENSMUSG00000076617 AA Change: C88S
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: C88S
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aatf |
A |
T |
11: 84,361,963 (GRCm39) |
L333Q |
probably damaging |
Het |
Ablim3 |
A |
T |
18: 61,949,989 (GRCm39) |
|
probably benign |
Het |
Acsl6 |
T |
C |
11: 54,236,826 (GRCm39) |
|
probably benign |
Het |
Adra1b |
T |
A |
11: 43,726,128 (GRCm39) |
D263V |
probably damaging |
Het |
Aicda |
G |
A |
6: 122,538,012 (GRCm39) |
V57M |
probably damaging |
Het |
C2cd3 |
T |
C |
7: 100,092,638 (GRCm39) |
W494R |
probably damaging |
Het |
Ccnb1 |
T |
C |
13: 100,920,017 (GRCm39) |
S165G |
probably benign |
Het |
Cnot4 |
A |
T |
6: 35,046,411 (GRCm39) |
|
probably benign |
Het |
Dph6 |
A |
T |
2: 114,348,776 (GRCm39) |
|
probably benign |
Het |
Emc3 |
A |
G |
6: 113,508,296 (GRCm39) |
S50P |
possibly damaging |
Het |
Fbxo45 |
A |
C |
16: 32,052,093 (GRCm39) |
|
probably null |
Het |
Gm14496 |
A |
T |
2: 181,642,125 (GRCm39) |
T599S |
probably benign |
Het |
Gspt1 |
T |
C |
16: 11,041,159 (GRCm39) |
I535V |
possibly damaging |
Het |
Hemk1 |
A |
G |
9: 107,207,995 (GRCm39) |
I215T |
possibly damaging |
Het |
Itih2 |
A |
C |
2: 10,134,097 (GRCm39) |
D38E |
probably benign |
Het |
Lat |
C |
A |
7: 125,967,261 (GRCm39) |
V113L |
probably benign |
Het |
Mical2 |
T |
A |
7: 111,981,269 (GRCm39) |
F480L |
possibly damaging |
Het |
Mki67 |
A |
T |
7: 135,300,005 (GRCm39) |
S1676R |
possibly damaging |
Het |
Msh2 |
A |
T |
17: 87,990,074 (GRCm39) |
N254I |
possibly damaging |
Het |
Naglu |
T |
C |
11: 100,964,921 (GRCm39) |
M336T |
probably damaging |
Het |
Nhsl1 |
C |
T |
10: 18,400,222 (GRCm39) |
R483C |
probably damaging |
Het |
Nsmaf |
C |
T |
4: 6,396,791 (GRCm39) |
E899K |
possibly damaging |
Het |
Nup85 |
T |
C |
11: 115,471,593 (GRCm39) |
Y181H |
probably damaging |
Het |
Or52n2 |
A |
T |
7: 104,542,499 (GRCm39) |
M112K |
possibly damaging |
Het |
Or5m5 |
T |
C |
2: 85,815,014 (GRCm39) |
S277P |
probably damaging |
Het |
Or7g35 |
A |
T |
9: 19,496,001 (GRCm39) |
Q56L |
probably benign |
Het |
Or8g23 |
C |
A |
9: 38,971,763 (GRCm39) |
L66F |
probably damaging |
Het |
P2rx3 |
C |
T |
2: 84,854,501 (GRCm39) |
R91H |
probably benign |
Het |
Plag1 |
T |
C |
4: 3,904,513 (GRCm39) |
D226G |
probably damaging |
Het |
Pofut1 |
T |
A |
2: 153,090,393 (GRCm39) |
F96I |
probably damaging |
Het |
Prim1 |
A |
G |
10: 127,865,112 (GRCm39) |
N399S |
probably benign |
Het |
Prkd3 |
G |
T |
17: 79,320,189 (GRCm39) |
T51K |
probably damaging |
Het |
Ptprc |
T |
C |
1: 137,992,497 (GRCm39) |
Y1210C |
probably damaging |
Het |
Rbm43 |
A |
T |
2: 51,815,460 (GRCm39) |
S254T |
probably damaging |
Het |
Retsat |
G |
A |
6: 72,584,300 (GRCm39) |
R528Q |
probably damaging |
Het |
Rlig1 |
A |
T |
10: 100,419,799 (GRCm39) |
L94Q |
probably benign |
Het |
Rps8 |
C |
A |
4: 117,012,249 (GRCm39) |
R56L |
probably benign |
Het |
Samhd1 |
A |
T |
2: 156,956,250 (GRCm39) |
|
probably benign |
Het |
Sfxn1 |
T |
C |
13: 54,259,758 (GRCm39) |
|
probably benign |
Het |
Stk33 |
T |
A |
7: 108,911,574 (GRCm39) |
E396D |
possibly damaging |
Het |
Tcaim |
T |
C |
9: 122,647,890 (GRCm39) |
V135A |
probably damaging |
Het |
Thsd7b |
A |
G |
1: 129,556,676 (GRCm39) |
D421G |
probably damaging |
Het |
Unc80 |
A |
G |
1: 66,640,215 (GRCm39) |
D1374G |
possibly damaging |
Het |
Wnk2 |
C |
A |
13: 49,224,586 (GRCm39) |
D232Y |
probably damaging |
Het |
Zfand1 |
T |
C |
3: 10,409,926 (GRCm39) |
T145A |
probably damaging |
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 |
|
IGL02069:Ighm
|
APN |
12 |
113,384,768 (GRCm39) |
unclassified |
probably benign |
|
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 |
2014-02-04 |