Incidental Mutation 'R5698:Ighmbp2'
| ID |
450823 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ighmbp2
|
| Ensembl Gene |
ENSMUSG00000024831 |
| Gene Name |
immunoglobulin mu DNA binding protein 2 |
| Synonyms |
Catf1, RIPE3b1, Smbp-2, Smbp2, p110 subunit, Smubp2, AEP, sma |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5698 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
3309076-3333011 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 3324538 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 243
(S243P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113438
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025751]
[ENSMUST00000119292]
[ENSMUST00000154537]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025751
AA Change: S243P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025751
Gene: ENSMUSG00000024831
AA Change: S243P
| Domain | Start | End | E-Value | Type |
|---|
|
DEXDc
|
187 |
446 |
8.99e-6 |
SMART |
|
AAA
|
205 |
374 |
9.08e-6 |
SMART |
|
low complexity region
|
598 |
609 |
N/A |
INTRINSIC |
|
R3H
|
704 |
783 |
1.2e-22 |
SMART |
|
low complexity region
|
784 |
813 |
N/A |
INTRINSIC |
|
low complexity region
|
858 |
869 |
N/A |
INTRINSIC |
|
ZnF_AN1
|
895 |
935 |
5.65e-13 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000119292
AA Change: S243P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113438
Gene: ENSMUSG00000024831
AA Change: S243P
| Domain | Start | End | E-Value | Type |
|---|
|
DEXDc
|
187 |
446 |
8.99e-6 |
SMART |
|
AAA
|
205 |
374 |
9.08e-6 |
SMART |
|
low complexity region
|
598 |
609 |
N/A |
INTRINSIC |
|
R3H
|
704 |
783 |
1.2e-22 |
SMART |
|
low complexity region
|
784 |
813 |
N/A |
INTRINSIC |
|
low complexity region
|
858 |
869 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000154537
AA Change: L210P
|
| SMART Domains |
Protein: ENSMUSP00000122827
Gene: ENSMUSG00000024831
AA Change: L210P
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4B3F|X
|
3 |
160 |
2e-80 |
PDB |
|
low complexity region
|
230 |
244 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a helicase superfamily member that binds a specific DNA sequence from the immunoglobulin mu chain switch region. Mutations in this gene lead to spinal muscle atrophy with respiratory distress type 1. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a spontaneous allele exhibit premature death, progressive limb muscle atrophy, decreased grip strength, severe motor neuron and axonal degeneration, dilated cardiomyopathy, myocardial fiber necrosis, increased heart rate variability, systolic dysfunction and respiratory failure. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930556J24Rik |
A |
G |
11: 3,926,366 (GRCm39) |
K334E |
possibly damaging |
Het |
| Ache |
G |
A |
5: 137,288,821 (GRCm39) |
V176M |
probably damaging |
Het |
| Acss3 |
T |
C |
10: 106,784,605 (GRCm39) |
D539G |
probably damaging |
Het |
| Adam6b |
T |
A |
12: 113,455,083 (GRCm39) |
D633E |
probably benign |
Het |
| Aldh16a1 |
G |
A |
7: 44,803,831 (GRCm39) |
|
probably benign |
Het |
| Amigo2 |
G |
A |
15: 97,143,607 (GRCm39) |
Q272* |
probably null |
Het |
| Aoc1l1 |
A |
G |
6: 48,953,256 (GRCm39) |
T394A |
possibly damaging |
Het |
| Appbp2 |
A |
T |
11: 85,100,925 (GRCm39) |
H171Q |
probably damaging |
Het |
| Arhgef18 |
A |
G |
8: 3,489,499 (GRCm39) |
D277G |
probably damaging |
Het |
| Armc8 |
A |
G |
9: 99,417,873 (GRCm39) |
V95A |
probably benign |
Het |
| Atp6v0a4 |
C |
T |
6: 38,027,442 (GRCm39) |
|
probably null |
Het |
| Atp8a1 |
A |
T |
5: 67,924,496 (GRCm39) |
N289K |
probably benign |
Het |
| Cand2 |
C |
T |
6: 115,768,704 (GRCm39) |
L505F |
probably damaging |
Het |
| Ccnt2 |
A |
G |
1: 127,730,965 (GRCm39) |
K614R |
probably benign |
Het |
| Col25a1 |
A |
G |
3: 130,272,632 (GRCm39) |
|
probably null |
Het |
| Copa |
T |
A |
1: 171,946,511 (GRCm39) |
L976* |
probably null |
Het |
| Ddx39b |
T |
C |
17: 35,470,287 (GRCm39) |
V267A |
probably benign |
Het |
| Dpp4 |
T |
A |
2: 62,164,655 (GRCm39) |
Q709L |
probably damaging |
Het |
| Eno4 |
A |
G |
19: 58,956,904 (GRCm39) |
|
probably null |
Het |
| Exoc3 |
A |
G |
13: 74,322,134 (GRCm39) |
L647P |
probably benign |
Het |
| Eya4 |
T |
C |
10: 23,015,975 (GRCm39) |
S308G |
possibly damaging |
Het |
| Fbxo41 |
T |
C |
6: 85,454,638 (GRCm39) |
T693A |
possibly damaging |
Het |
| Fcgbp |
A |
G |
7: 27,791,447 (GRCm39) |
T903A |
possibly damaging |
Het |
| Fkbp10 |
G |
T |
11: 100,314,352 (GRCm39) |
W384L |
probably damaging |
Het |
| Frem2 |
A |
G |
3: 53,559,926 (GRCm39) |
I1527T |
possibly damaging |
Het |
| H13 |
T |
A |
2: 152,530,875 (GRCm39) |
I220N |
probably damaging |
Het |
| Has2 |
T |
C |
15: 56,531,312 (GRCm39) |
R468G |
probably damaging |
Het |
| Irs1 |
T |
C |
1: 82,266,455 (GRCm39) |
H587R |
probably benign |
Het |
| Kcnk1 |
C |
T |
8: 126,752,144 (GRCm39) |
T250M |
probably damaging |
Het |
| Kif9 |
T |
C |
9: 110,339,532 (GRCm39) |
V458A |
probably benign |
Het |
| Krt14 |
T |
C |
11: 100,096,451 (GRCm39) |
T208A |
probably benign |
Het |
| Mybpc3 |
C |
A |
2: 90,955,194 (GRCm39) |
H349Q |
possibly damaging |
Het |
| Neurl3 |
T |
A |
1: 36,305,587 (GRCm39) |
T207S |
possibly damaging |
Het |
| Nol9 |
T |
C |
4: 152,135,031 (GRCm39) |
V388A |
probably damaging |
Het |
| Notch3 |
T |
C |
17: 32,376,961 (GRCm39) |
N315D |
probably damaging |
Het |
| Oas1h |
G |
T |
5: 121,009,045 (GRCm39) |
A252S |
probably damaging |
Het |
| Or13c7b |
C |
A |
4: 43,821,183 (GRCm39) |
M59I |
probably damaging |
Het |
| Pcbp1 |
G |
A |
6: 86,502,134 (GRCm39) |
T255M |
possibly damaging |
Het |
| Plec |
A |
G |
15: 76,083,808 (GRCm39) |
V18A |
probably benign |
Het |
| Ppp1r17 |
A |
T |
6: 56,003,529 (GRCm39) |
E114V |
probably damaging |
Het |
| Scamp5 |
A |
T |
9: 57,352,716 (GRCm39) |
M151K |
possibly damaging |
Het |
| Sestd1 |
T |
C |
2: 77,048,512 (GRCm39) |
Y135C |
possibly damaging |
Het |
| Slc22a21 |
T |
G |
11: 53,842,175 (GRCm39) |
K534N |
probably benign |
Het |
| Slc25a12 |
T |
C |
2: 71,112,917 (GRCm39) |
E448G |
probably damaging |
Het |
| Slco3a1 |
A |
G |
7: 73,996,566 (GRCm39) |
L280P |
probably damaging |
Het |
| Sppl2b |
C |
A |
10: 80,701,879 (GRCm39) |
|
probably null |
Het |
| Srd5a2 |
T |
C |
17: 74,334,014 (GRCm39) |
E135G |
possibly damaging |
Het |
| Tfg |
A |
T |
16: 56,521,467 (GRCm39) |
M183K |
probably damaging |
Het |
| Ticrr |
G |
A |
7: 79,328,881 (GRCm39) |
M673I |
probably benign |
Het |
| Tm4sf20 |
T |
G |
1: 82,745,958 (GRCm39) |
M61L |
probably benign |
Het |
| Ttll8 |
A |
T |
15: 88,823,209 (GRCm39) |
S85T |
possibly damaging |
Het |
| Uggt2 |
G |
A |
14: 119,280,138 (GRCm39) |
S780F |
probably damaging |
Het |
| Uroc1 |
T |
C |
6: 90,324,302 (GRCm39) |
L442P |
probably damaging |
Het |
| Zfp1005 |
C |
T |
2: 150,111,394 (GRCm39) |
H695Y |
possibly damaging |
Het |
| Znrf3 |
A |
G |
11: 5,239,006 (GRCm39) |
|
probably benign |
Het |
| Zswim2 |
C |
A |
2: 83,755,527 (GRCm39) |
D125Y |
possibly damaging |
Het |
|
| Other mutations in Ighmbp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00423:Ighmbp2
|
APN |
19 |
3,318,704 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01160:Ighmbp2
|
APN |
19 |
3,326,750 (GRCm39) |
splice site |
probably benign |
|
|
IGL01358:Ighmbp2
|
APN |
19 |
3,318,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01478:Ighmbp2
|
APN |
19 |
3,324,531 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01509:Ighmbp2
|
APN |
19 |
3,318,711 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL01557:Ighmbp2
|
APN |
19 |
3,331,472 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL01635:Ighmbp2
|
APN |
19 |
3,317,265 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01712:Ighmbp2
|
APN |
19 |
3,323,038 (GRCm39) |
splice site |
probably benign |
|
|
IGL01949:Ighmbp2
|
APN |
19 |
3,315,538 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03106:Ighmbp2
|
APN |
19 |
3,323,022 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL03212:Ighmbp2
|
APN |
19 |
3,329,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0038:Ighmbp2
|
UTSW |
19 |
3,312,097 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0455:Ighmbp2
|
UTSW |
19 |
3,315,072 (GRCm39) |
missense |
probably benign |
0.34 |
|
R1661:Ighmbp2
|
UTSW |
19 |
3,317,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1756:Ighmbp2
|
UTSW |
19 |
3,318,669 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1851:Ighmbp2
|
UTSW |
19 |
3,312,075 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2055:Ighmbp2
|
UTSW |
19 |
3,315,095 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2194:Ighmbp2
|
UTSW |
19 |
3,315,116 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3838:Ighmbp2
|
UTSW |
19 |
3,321,658 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4409:Ighmbp2
|
UTSW |
19 |
3,321,536 (GRCm39) |
missense |
probably benign |
|
|
R4583:Ighmbp2
|
UTSW |
19 |
3,315,324 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4806:Ighmbp2
|
UTSW |
19 |
3,311,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5091:Ighmbp2
|
UTSW |
19 |
3,315,084 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R5274:Ighmbp2
|
UTSW |
19 |
3,315,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5319:Ighmbp2
|
UTSW |
19 |
3,321,646 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5500:Ighmbp2
|
UTSW |
19 |
3,318,687 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5574:Ighmbp2
|
UTSW |
19 |
3,321,536 (GRCm39) |
missense |
probably benign |
|
|
R5722:Ighmbp2
|
UTSW |
19 |
3,329,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5864:Ighmbp2
|
UTSW |
19 |
3,311,467 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5980:Ighmbp2
|
UTSW |
19 |
3,315,295 (GRCm39) |
missense |
probably benign |
|
|
R6194:Ighmbp2
|
UTSW |
19 |
3,312,003 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6939:Ighmbp2
|
UTSW |
19 |
3,326,907 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7051:Ighmbp2
|
UTSW |
19 |
3,311,462 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7147:Ighmbp2
|
UTSW |
19 |
3,321,676 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7257:Ighmbp2
|
UTSW |
19 |
3,316,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7274:Ighmbp2
|
UTSW |
19 |
3,314,951 (GRCm39) |
missense |
probably benign |
|
|
R7567:Ighmbp2
|
UTSW |
19 |
3,322,981 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7737:Ighmbp2
|
UTSW |
19 |
3,324,467 (GRCm39) |
missense |
unknown |
|
|
R7819:Ighmbp2
|
UTSW |
19 |
3,317,276 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7877:Ighmbp2
|
UTSW |
19 |
3,311,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8175:Ighmbp2
|
UTSW |
19 |
3,316,365 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R8417:Ighmbp2
|
UTSW |
19 |
3,311,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8951:Ighmbp2
|
UTSW |
19 |
3,318,726 (GRCm39) |
nonsense |
probably null |
|
|
R9171:Ighmbp2
|
UTSW |
19 |
3,315,641 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9409:Ighmbp2
|
UTSW |
19 |
3,318,832 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R9567:Ighmbp2
|
UTSW |
19 |
3,332,785 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
R9663:Ighmbp2
|
UTSW |
19 |
3,315,325 (GRCm39) |
missense |
probably benign |
0.27 |
|
R9752:Ighmbp2
|
UTSW |
19 |
3,324,360 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Ighmbp2
|
UTSW |
19 |
3,321,665 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Ighmbp2
|
UTSW |
19 |
3,317,242 (GRCm39) |
missense |
probably null |
1.00 |
|
Z1177:Ighmbp2
|
UTSW |
19 |
3,315,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCCCTTCTGATGTCAGCAAC -3'
(R):5'- ACATTCAGTGTTTGGGAGATGC -3'
Sequencing Primer
(F):5'- AACAATCTGGGCGTTGTCAC -3'
(R):5'- ATGCATAGGCTGTGGCTCTCC -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation