Incidental Mutation 'R4475:Ighm'
| ID |
330529 |
| 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 |
041732-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
R4475 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
113382446-113386350 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 113384513 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: S447P
|
| SMART Domains |
Protein: ENSMUSP00000100222
Gene: ENSMUSG00000076617
AA Change: S447P
| 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 |
probably benign
Transcript: ENSMUST00000177715
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192250
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194162
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196624
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.8%
|
| Validation Efficiency |
97% (38/39) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630010A05Rik |
T |
A |
16: 14,407,227 (GRCm39) |
I52N |
possibly damaging |
Het |
| Adgra3 |
A |
T |
5: 50,159,240 (GRCm39) |
Y337N |
probably damaging |
Het |
| Aga |
T |
C |
8: 53,964,871 (GRCm39) |
L11P |
probably damaging |
Het |
| Akap6 |
T |
C |
12: 53,188,426 (GRCm39) |
F1947L |
probably benign |
Het |
| Atp6v1c1 |
T |
C |
15: 38,677,817 (GRCm39) |
I114T |
probably benign |
Het |
| Bltp1 |
A |
G |
3: 37,094,544 (GRCm39) |
T904A |
probably damaging |
Het |
| Dbh |
T |
A |
2: 27,070,984 (GRCm39) |
|
probably null |
Het |
| Dgkh |
T |
C |
14: 78,827,318 (GRCm39) |
D858G |
possibly damaging |
Het |
| Dlx5 |
T |
C |
6: 6,881,663 (GRCm39) |
Y75C |
probably damaging |
Het |
| Dnah8 |
T |
C |
17: 30,875,959 (GRCm39) |
F529L |
probably benign |
Het |
| Epg5 |
A |
C |
18: 77,991,723 (GRCm39) |
D140A |
probably benign |
Het |
| Esr2 |
C |
T |
12: 76,180,716 (GRCm39) |
D402N |
probably benign |
Het |
| Hells |
A |
G |
19: 38,933,973 (GRCm39) |
T265A |
probably damaging |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Hspa8 |
T |
A |
9: 40,715,442 (GRCm39) |
|
probably benign |
Het |
| Nedd4 |
C |
T |
9: 72,578,521 (GRCm39) |
R78* |
probably null |
Het |
| Nrxn1 |
G |
T |
17: 91,009,410 (GRCm39) |
N388K |
probably damaging |
Het |
| Oprk1 |
T |
A |
1: 5,672,824 (GRCm39) |
Y320* |
probably null |
Het |
| Or10j2 |
T |
C |
1: 173,098,480 (GRCm39) |
V246A |
probably damaging |
Het |
| Or9s27 |
T |
C |
1: 92,516,301 (GRCm39) |
V83A |
probably benign |
Het |
| Parn |
A |
G |
16: 13,482,549 (GRCm39) |
S100P |
probably benign |
Het |
| Piezo2 |
A |
G |
18: 63,235,170 (GRCm39) |
L809P |
probably damaging |
Het |
| Plek |
C |
T |
11: 16,935,528 (GRCm39) |
|
probably null |
Het |
| Prg4 |
T |
C |
1: 150,330,610 (GRCm39) |
|
probably benign |
Het |
| Rrs1 |
T |
C |
1: 9,615,810 (GRCm39) |
L21P |
probably damaging |
Het |
| Siah1b |
G |
A |
X: 162,854,688 (GRCm39) |
P131S |
probably damaging |
Het |
| Sim2 |
T |
C |
16: 93,926,650 (GRCm39) |
S625P |
probably benign |
Het |
| Smpd5 |
T |
C |
15: 76,178,926 (GRCm39) |
L98P |
probably damaging |
Het |
| Srpra |
A |
G |
9: 35,124,155 (GRCm39) |
K34E |
possibly damaging |
Het |
| Tbc1d2 |
A |
G |
4: 46,609,080 (GRCm39) |
V719A |
possibly damaging |
Het |
| Tmem52b |
C |
T |
6: 129,491,219 (GRCm39) |
H37Y |
probably benign |
Het |
| Tnip1 |
A |
G |
11: 54,830,422 (GRCm39) |
|
probably null |
Het |
| Trim3 |
A |
G |
7: 105,267,009 (GRCm39) |
Y457H |
probably damaging |
Het |
| Usp34 |
T |
C |
11: 23,407,975 (GRCm39) |
I2600T |
possibly damaging |
Het |
| Vmn2r129 |
T |
G |
4: 156,691,085 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp365 |
C |
A |
10: 67,724,750 (GRCm39) |
K379N |
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 |
|
|
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 |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAAGTATGCAGGGTGTGTGC -3'
(R):5'- CAGGCTTCTACTTTACCCACAG -3'
Sequencing Primer
(F):5'- TCTCAGCAGGCATGAGCATTG -3'
(R):5'- CAGCATCCTGACTGTGACAGAG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation