Incidental Mutation 'R5738:Ighm'
| ID |
444641 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ighm
|
| Ensembl Gene |
ENSMUSG00000076617 |
| Gene Name |
immunoglobulin heavy constant mu |
| Synonyms |
Igh-M, Ig mu, IgM, muH, Igh6 |
| MMRRC Submission |
043350-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.084)
|
| Stock # |
R5738 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
113382446-113386350 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 113385115 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 282
(T282A)
|
| Gene Model |
predicted gene model for transcript(s):
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
unknown
Transcript: ENSMUST00000103426
AA Change: T282A
|
| SMART Domains |
Protein: ENSMUSP00000100222
Gene: ENSMUSG00000076617
AA Change: T282A
| 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: T282A
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196624
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
98% (52/53) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
T |
11: 9,571,917 (GRCm39) |
D4826V |
probably damaging |
Het |
| Acoxl |
G |
A |
2: 127,719,686 (GRCm39) |
C149Y |
probably benign |
Het |
| Adamts3 |
G |
T |
5: 89,856,527 (GRCm39) |
H349N |
probably damaging |
Het |
| Ap2b1 |
A |
G |
11: 83,227,256 (GRCm39) |
|
probably null |
Het |
| Ap3m2 |
T |
C |
8: 23,293,877 (GRCm39) |
S58G |
possibly damaging |
Het |
| Bhmt2 |
A |
T |
13: 93,799,798 (GRCm39) |
W213R |
probably benign |
Het |
| Cacna1h |
T |
G |
17: 25,606,023 (GRCm39) |
D1092A |
probably damaging |
Het |
| Cbfb |
A |
C |
8: 105,929,193 (GRCm39) |
Q170P |
probably damaging |
Het |
| Ccdc73 |
A |
C |
2: 104,761,331 (GRCm39) |
K110N |
possibly damaging |
Het |
| Cep350 |
C |
A |
1: 155,741,824 (GRCm39) |
R2149L |
probably damaging |
Het |
| Cog2 |
A |
G |
8: 125,272,777 (GRCm39) |
T525A |
probably benign |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Fbxl5 |
A |
G |
5: 43,920,170 (GRCm39) |
I251T |
probably benign |
Het |
| Fscn3 |
A |
G |
6: 28,430,030 (GRCm39) |
K67E |
possibly damaging |
Het |
| Glmp |
T |
A |
3: 88,233,445 (GRCm39) |
N133K |
probably benign |
Het |
| Gpr179 |
T |
C |
11: 97,242,232 (GRCm39) |
N204S |
probably damaging |
Het |
| Gtf2ird1 |
C |
T |
5: 134,412,672 (GRCm39) |
R613Q |
probably damaging |
Het |
| Hepacam |
A |
G |
9: 37,294,721 (GRCm39) |
D285G |
possibly damaging |
Het |
| Hipk4 |
G |
A |
7: 27,227,841 (GRCm39) |
V196M |
probably damaging |
Het |
| Hlx |
A |
T |
1: 184,463,754 (GRCm39) |
|
probably null |
Het |
| Igf2r |
A |
T |
17: 12,936,254 (GRCm39) |
D597E |
probably benign |
Het |
| Igsf9b |
T |
C |
9: 27,239,826 (GRCm39) |
C624R |
probably damaging |
Het |
| Ksr2 |
T |
C |
5: 117,886,864 (GRCm39) |
V800A |
probably damaging |
Het |
| Lyn |
A |
T |
4: 3,782,987 (GRCm39) |
I386F |
probably damaging |
Het |
| Melk |
A |
G |
4: 44,310,333 (GRCm39) |
D102G |
probably damaging |
Het |
| Mettl1 |
G |
T |
10: 126,877,863 (GRCm39) |
E4* |
probably null |
Het |
| Mybl2 |
C |
T |
2: 162,910,203 (GRCm39) |
Q210* |
probably null |
Het |
| Naga |
C |
T |
15: 82,219,054 (GRCm39) |
W231* |
probably null |
Het |
| Or2y3 |
T |
C |
17: 38,393,347 (GRCm39) |
Y174C |
probably damaging |
Het |
| Or4k2 |
C |
T |
14: 50,424,105 (GRCm39) |
V190I |
probably benign |
Het |
| Or7g16 |
T |
C |
9: 18,727,125 (GRCm39) |
N155S |
possibly damaging |
Het |
| Otud4 |
T |
C |
8: 80,400,090 (GRCm39) |
S935P |
probably benign |
Het |
| P2rx7 |
C |
T |
5: 122,790,852 (GRCm39) |
T63I |
probably damaging |
Het |
| Pga5 |
A |
T |
19: 10,647,024 (GRCm39) |
N260K |
probably benign |
Het |
| Phka2 |
ACC |
AC |
X: 159,342,862 (GRCm39) |
|
probably null |
Het |
| Plch1 |
T |
A |
3: 63,681,076 (GRCm39) |
R184W |
probably damaging |
Het |
| Ppm1b |
T |
C |
17: 85,301,374 (GRCm39) |
F85L |
probably benign |
Het |
| Prtg |
T |
A |
9: 72,819,288 (GRCm39) |
F1094I |
probably benign |
Het |
| Ralgds |
G |
A |
2: 28,432,538 (GRCm39) |
|
probably benign |
Het |
| Rgs17 |
A |
C |
10: 5,783,140 (GRCm39) |
V149G |
probably damaging |
Het |
| Rnf168 |
A |
G |
16: 32,101,192 (GRCm39) |
E124G |
probably damaging |
Het |
| Sav1 |
T |
C |
12: 70,022,817 (GRCm39) |
E245G |
possibly damaging |
Het |
| Slc25a19 |
T |
C |
11: 115,515,060 (GRCm39) |
I33V |
probably benign |
Het |
| Sptbn1 |
T |
C |
11: 30,095,941 (GRCm39) |
I318V |
probably damaging |
Het |
| Tas2r136 |
A |
G |
6: 132,754,707 (GRCm39) |
L140P |
probably damaging |
Het |
| Tbc1d9 |
A |
G |
8: 83,997,655 (GRCm39) |
I1071V |
probably benign |
Het |
| Tecta |
G |
T |
9: 42,284,474 (GRCm39) |
N870K |
possibly damaging |
Het |
| Tmem230 |
G |
A |
2: 132,086,048 (GRCm39) |
P38L |
possibly damaging |
Het |
| Trpa1 |
G |
T |
1: 14,946,174 (GRCm39) |
H986N |
probably damaging |
Het |
| Wdr41 |
A |
T |
13: 95,114,996 (GRCm39) |
I24L |
possibly 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 |
|
|
IGL01775:Ighm
|
APN |
12 |
113,386,087 (GRCm39) |
missense |
unknown |
|
|
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 |
|
|
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 |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTATGAGGTACAGGAAGGGTCC -3'
(R):5'- TGACACAGTGTTCTCTTGACTG -3'
Sequencing Primer
(F):5'- GGAAGGGTCCTGCAATTGG -3'
(R):5'- ACAGTGTTCTCTTGACTGCAGGTC -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation