Mutagenetix > Incidental Mutation

Incidental Mutation 'R7819:Ighmbp2'

601790

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

MMRRC Submission

045873-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7819 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

3309076-3333011 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 3317276 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 532 (G532D)

Ref Sequence

ENSEMBL: ENSMUSP00000025751 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025751] [ENSMUST00000119292] [ENSMUST00000154537]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025751
AA Change: G532D

PolyPhen 2 Score 0.456 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000025751
Gene: ENSMUSG00000024831
AA Change: G532D

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 benign
Transcript: ENSMUST00000119292
AA Change: G532D

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000113438
Gene: ENSMUSG00000024831
AA Change: G532D

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

probably benign
Transcript: ENSMUST00000154537

SMART Domains

Protein: ENSMUSP00000122827
Gene: ENSMUSG00000024831

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730596B20Rik	C	G	6: 52,156,254 (GRCm39)		probably benign	Het
Abcg3	T	C	5: 105,125,594 (GRCm39)	T30A	probably benign	Het
Adra1b	A	T	11: 43,726,194 (GRCm39)	V241D	probably damaging	Het
Ahctf1	A	T	1: 179,595,880 (GRCm39)	N170K	probably benign	Het
Ahr	A	G	12: 35,559,999 (GRCm39)	L218P	probably damaging	Het
Apol8	C	T	15: 77,633,959 (GRCm39)	V206M	probably damaging	Het
Arhgap11a	T	A	2: 113,665,263 (GRCm39)		probably null	Het
B3galnt1	T	C	3: 69,483,108 (GRCm39)	Y51C	probably damaging	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
Capn3	T	C	2: 120,294,646 (GRCm39)	V98A	probably benign	Het
Casp12	T	C	9: 5,352,805 (GRCm39)	L209P	probably damaging	Het
Ccdc96	A	T	5: 36,643,329 (GRCm39)	Q445L	probably damaging	Het
Cdc37	A	G	9: 21,052,260 (GRCm39)	S301P	probably damaging	Het
Cep89	A	T	7: 35,131,968 (GRCm39)	H634L	probably benign	Het
Cert1	A	T	13: 96,765,575 (GRCm39)	T447S	possibly damaging	Het
Cfap251	A	G	5: 123,392,322 (GRCm39)		probably benign	Het
Chmp3	T	A	6: 71,538,008 (GRCm39)	Y12*	probably null	Het
Clgn	A	T	8: 84,134,829 (GRCm39)	I156F	possibly damaging	Het
Cmtm1	TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG	TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG	8: 105,036,334 (GRCm39)		probably null	Het
Crb2	T	A	2: 37,681,603 (GRCm39)	N815K	probably benign	Het
Crppa	A	G	12: 36,431,902 (GRCm39)	T44A	probably benign	Het
Csgalnact2	A	C	6: 118,098,050 (GRCm39)	L97V	possibly damaging	Het
Ctsh	T	A	9: 89,942,556 (GRCm39)	M37K	possibly damaging	Het
D630003M21Rik	T	C	2: 158,058,718 (GRCm39)	E394G	probably damaging	Het
Ddx31	T	G	2: 28,782,463 (GRCm39)	L602R	probably damaging	Het
Defb40	T	A	8: 19,025,050 (GRCm39)	Y52F	probably benign	Het
Dip2a	A	G	10: 76,126,862 (GRCm39)	V710A	probably benign	Het
Dnah2	T	C	11: 69,407,419 (GRCm39)	I150V	probably benign	Het
Eln	A	T	5: 134,766,035 (GRCm39)	L56Q	unknown	Het
Ezh1	T	C	11: 101,085,740 (GRCm39)	N639S	probably damaging	Het
Fzd3	A	G	14: 65,472,775 (GRCm39)	F331S	probably damaging	Het
Gbp9	T	C	5: 105,251,745 (GRCm39)	T68A	possibly damaging	Het
Gltp	A	G	5: 114,812,161 (GRCm39)	M104T	probably benign	Het
Gmps	G	A	3: 63,893,048 (GRCm39)	V118M	probably damaging	Het
Gpsm1	T	C	2: 26,229,705 (GRCm39)	L42P	probably damaging	Het
Hsfy2	T	A	1: 56,675,418 (GRCm39)	H373L	probably benign	Het
Ica1l	A	T	1: 60,054,953 (GRCm39)	F93I	possibly damaging	Het
Idh1	A	G	1: 65,204,277 (GRCm39)	S278P	probably damaging	Het
Ikbkb	A	G	8: 23,161,742 (GRCm39)	L382S	probably benign	Het
Il1rap	T	A	16: 26,541,151 (GRCm39)	M464K	possibly damaging	Het
Ing2	G	A	8: 48,122,063 (GRCm39)	R162C	probably damaging	Het
Ints1	A	T	5: 139,746,522 (GRCm39)	L1275H	probably damaging	Het
Itga1	T	C	13: 115,185,837 (GRCm39)	E55G	probably damaging	Het
Itih4	T	C	14: 30,623,620 (GRCm39)	F930L	probably benign	Het
Kcnh8	A	G	17: 53,263,743 (GRCm39)	T747A	probably benign	Het
Kit	A	G	5: 75,806,592 (GRCm39)	E699G	probably benign	Het
Lamc3	T	C	2: 31,811,775 (GRCm39)	S921P	probably benign	Het
Lrrc63	TGGCGGCGGCGGCGGCGGCGGC	TGGCGGCGGCGGCGGCGGCGGCGGC	14: 75,362,661 (GRCm39)		probably benign	Het
Map10	TCAGTTGTCCAG	TCAG	8: 126,397,260 (GRCm39)		probably null	Het
Map2k5	T	C	9: 63,265,300 (GRCm39)	E76G	probably damaging	Het
Mgat3	G	T	15: 80,095,973 (GRCm39)	E267*	probably null	Het
Nhsl3	A	G	4: 129,116,276 (GRCm39)	V841A	probably benign	Het
Npepps	C	A	11: 97,139,095 (GRCm39)	G159V	probably damaging	Het
Nrap	A	G	19: 56,323,720 (GRCm39)	V1284A	probably benign	Het
Or10a3	T	A	7: 108,480,610 (GRCm39)	I68F	probably damaging	Het
Or6c66b	A	T	10: 129,376,562 (GRCm39)	H52L	probably benign	Het
Oxgr1	T	C	14: 120,260,281 (GRCm39)		probably null	Het
Pcdhb18	T	C	18: 37,624,308 (GRCm39)	L546P	possibly damaging	Het
Pcdhga5	G	A	18: 37,829,633 (GRCm39)	V694M	probably damaging	Het
Pde9a	A	T	17: 31,679,174 (GRCm39)	I255F	possibly damaging	Het
Pi4k2a	G	A	19: 42,079,013 (GRCm39)	G25R	probably benign	Het
Plscr4	C	T	9: 92,372,843 (GRCm39)	R322*	probably null	Het
Ppp1r37	A	G	7: 19,267,989 (GRCm39)	I302T	probably damaging	Het
Prkar2a	T	A	9: 108,622,744 (GRCm39)	Y311N	probably damaging	Het
Prkd3	A	T	17: 79,279,930 (GRCm39)	D254E	probably benign	Het
Prmt9	T	C	8: 78,294,973 (GRCm39)	V439A	probably benign	Het
Ptpra	T	C	2: 130,346,126 (GRCm39)	S96P	probably benign	Het
Rnf103	A	G	6: 71,485,914 (GRCm39)	T182A	probably benign	Het
Rpusd4	A	G	9: 35,179,228 (GRCm39)	S15G	probably benign	Het
Sco1	A	G	11: 66,949,219 (GRCm39)	Y229C	probably damaging	Het
Skint5	T	A	4: 113,417,032 (GRCm39)	Q1139L	unknown	Het
Slc16a12	A	G	19: 34,652,579 (GRCm39)	V189A	probably damaging	Het
Slfn8	T	G	11: 82,895,081 (GRCm39)	N575T	probably damaging	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Stard9	T	C	2: 120,531,465 (GRCm39)	L2574P	probably damaging	Het
Syn3	A	T	10: 85,891,404 (GRCm39)		probably benign	Het
Tspo2	A	T	17: 48,756,985 (GRCm39)	D32E	probably damaging	Het
Vmn1r72	A	G	7: 11,403,552 (GRCm39)	F299L	probably benign	Het
Xbp1	G	A	11: 5,474,886 (GRCm39)	M262I	probably benign	Het
Zfp354b	G	A	11: 50,814,632 (GRCm39)	Q98*	probably null	Het
Zfp582	A	C	7: 6,357,165 (GRCm39)	H326P	probably 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
R5698:Ighmbp2	UTSW	19	3,324,538 (GRCm39)	missense	probably damaging	1.00
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
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'- AAGGTCAGGCTGGTAGCTAC -3'
(R):5'- CTTGGCCCAGCATAAGATCTGC -3'

Sequencing Primer
(F):5'- CAGAAACATATATGGTCTCTTGCTGG -3'
(R):5'- CTCACAACAGGCAGGAAGTGTTTC -3'

Posted On

2019-12-03