Incidental Mutation 'R5856:Ighm'
| ID |
454922 |
| 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 |
043230-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.084)
|
| Stock # |
R5856 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
113382446-113386350 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 113385222 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 246
(L246Q)
|
| Gene Model |
predicted gene model for transcript(s):
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
unknown
Transcript: ENSMUST00000103426
AA Change: L246Q
|
| SMART Domains |
Protein: ENSMUSP00000100222
Gene: ENSMUSG00000076617
AA Change: L246Q
| 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: L246Q
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196624
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.0%
- 20x: 90.2%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930553M12Rik |
T |
C |
4: 88,786,596 (GRCm39) |
I7M |
unknown |
Het |
| Adgrf5 |
A |
G |
17: 43,757,011 (GRCm39) |
T497A |
probably benign |
Het |
| Ano5 |
T |
C |
7: 51,235,074 (GRCm39) |
I669T |
probably benign |
Het |
| Arhgap11a |
A |
T |
2: 113,664,116 (GRCm39) |
N722K |
possibly damaging |
Het |
| Atm |
A |
T |
9: 53,407,255 (GRCm39) |
I1161K |
possibly damaging |
Het |
| Atp13a4 |
T |
C |
16: 29,252,805 (GRCm39) |
T714A |
possibly damaging |
Het |
| BC051665 |
T |
A |
13: 60,932,314 (GRCm39) |
M92L |
probably benign |
Het |
| Car3 |
G |
A |
3: 14,936,701 (GRCm39) |
V255M |
probably damaging |
Het |
| Cnot11 |
C |
A |
1: 39,576,534 (GRCm39) |
F179L |
probably benign |
Het |
| Dctn1 |
A |
G |
6: 83,174,847 (GRCm39) |
Y1013C |
probably damaging |
Het |
| Gm19965 |
A |
G |
1: 116,749,579 (GRCm39) |
D420G |
probably benign |
Het |
| Gm5444 |
A |
G |
13: 4,821,683 (GRCm39) |
|
noncoding transcript |
Het |
| Hydin |
A |
T |
8: 111,268,474 (GRCm39) |
D2946V |
probably damaging |
Het |
| Hyou1 |
C |
T |
9: 44,292,641 (GRCm39) |
R119C |
probably damaging |
Het |
| Itpr3 |
A |
G |
17: 27,325,379 (GRCm39) |
E1324G |
probably damaging |
Het |
| Loxl4 |
G |
T |
19: 42,583,805 (GRCm39) |
Q749K |
possibly damaging |
Het |
| Muc2 |
C |
A |
7: 141,299,381 (GRCm39) |
|
probably benign |
Het |
| Myh11 |
T |
C |
16: 14,023,840 (GRCm39) |
T1505A |
probably benign |
Het |
| Nsmce2 |
A |
G |
15: 59,250,792 (GRCm39) |
E21G |
probably damaging |
Het |
| Or13c3 |
T |
A |
4: 52,856,516 (GRCm39) |
|
probably benign |
Het |
| Or4c115 |
T |
A |
2: 88,928,254 (GRCm39) |
I6F |
probably benign |
Het |
| Plaa |
A |
G |
4: 94,471,724 (GRCm39) |
I375T |
probably benign |
Het |
| Pou2f1 |
C |
T |
1: 165,742,699 (GRCm39) |
A65T |
probably benign |
Het |
| Rictor |
G |
A |
15: 6,823,487 (GRCm39) |
E1555K |
probably benign |
Het |
| Rxfp1 |
T |
A |
3: 79,570,620 (GRCm39) |
N271Y |
possibly damaging |
Het |
| Sema5b |
T |
G |
16: 35,466,756 (GRCm39) |
Y219* |
probably null |
Het |
| Slc35f3 |
G |
T |
8: 127,047,819 (GRCm39) |
R53L |
probably benign |
Het |
| Slc44a5 |
T |
C |
3: 153,964,029 (GRCm39) |
V465A |
possibly damaging |
Het |
| Slc9a5 |
A |
G |
8: 106,083,797 (GRCm39) |
I446V |
possibly damaging |
Het |
| Slf1 |
A |
T |
13: 77,254,206 (GRCm39) |
D204E |
possibly damaging |
Het |
| Sox5 |
T |
A |
6: 144,155,088 (GRCm39) |
T3S |
probably damaging |
Het |
| Srr |
G |
A |
11: 74,803,838 (GRCm39) |
R40C |
possibly damaging |
Het |
| Tas2r115 |
T |
A |
6: 132,714,501 (GRCm39) |
H150L |
possibly damaging |
Het |
| Tet2 |
A |
G |
3: 133,192,401 (GRCm39) |
S678P |
probably benign |
Het |
| Tmem11 |
T |
C |
11: 60,755,684 (GRCm39) |
K183E |
probably damaging |
Het |
| Upf1 |
T |
C |
8: 70,787,412 (GRCm39) |
|
probably null |
Het |
| Xpo6 |
A |
T |
7: 125,748,674 (GRCm39) |
|
probably benign |
Het |
| Zfp638 |
C |
T |
6: 83,954,047 (GRCm39) |
S1384L |
probably damaging |
Het |
| Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
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 |
|
|
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 |
|
|
R5738:Ighm
|
UTSW |
12 |
113,385,115 (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'- CTTCTGTGGTGAAGGCAGATCC -3'
(R):5'- ACCAGCATCTTCCCTTAAGTAGG -3'
Sequencing Primer
(F):5'- TGAAGGCAGATCCCTGTGAGTC -3'
(R):5'- CAGCATCTTCCCTTAAGTAGGTTTGG -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation