Mutagenetix > Incidental Mutation

Incidental Mutation 'R1851:Ighmbp2'

208151

Institutional Source

Beutler Lab

Gene Symbol

Ighmbp2

Ensembl Gene

ENSMUSG00000024831

Gene Name

immunoglobulin mu binding protein 2

Synonyms

sma, Smbp2, RIPE3b1, AEP, Catf1, Smbp-2, p110 subunit, Smubp2

MMRRC Submission

039875-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1851 (G1)

Quality Score

113

Status

Not validated

Chromosome

Chromosomal Location

3260924-3283017 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 3262075 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 893 (N893S)

Ref Sequence

ENSEMBL: ENSMUSP00000025751 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000025751
AA Change: N893S

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000025751
Gene: ENSMUSG00000024831
AA Change: N893S

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

SMART Domains

Protein: ENSMUSP00000113438
Gene: ENSMUSG00000024831

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

noncoding transcript
Transcript: ENSMUST00000143079

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: 97.4%
3x: 96.8%
10x: 94.9%
20x: 91.3%

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730507C01Rik	A	G	12: 18,533,686	E225G	possibly damaging	Het
Abcb7	T	C	X: 104,305,399	M153V	probably benign	Het
Abi1	A	T	2: 22,950,264	V329D	possibly damaging	Het
Ablim3	G	A	18: 61,849,395	H160Y	probably benign	Het
Acox3	A	T	5: 35,609,062	D624V	possibly damaging	Het
Adam6b	A	G	12: 113,491,822	D753G	probably benign	Het
Ago1	C	A	4: 126,439,995	R771L	probably benign	Het
Aktip	A	G	8: 91,125,877	V217A	possibly damaging	Het
Ankk1	A	C	9: 49,415,850	H676Q	probably benign	Het
Arl1	G	C	10: 88,733,546		probably benign	Het
Asxl3	T	A	18: 22,517,739	D928E	probably damaging	Het
AW209491	T	C	13: 14,636,733	V57A	possibly damaging	Het
B3galt4	G	T	17: 33,950,911	Q118K	probably benign	Het
Ccdc187	A	T	2: 26,276,068	M783K	probably benign	Het
Cdon	T	G	9: 35,483,158	M900R	probably damaging	Het
Ceacam5	G	A	7: 17,714,910	W67*	probably null	Het
Chd5	A	G	4: 152,378,270	S1356G	probably damaging	Het
Chil3	C	T	3: 106,148,801		probably null	Het
Chmp7	C	T	14: 69,719,450	M336I	probably benign	Het
Cntn1	C	T	15: 92,305,140	R768C	probably damaging	Het
Col6a3	T	A	1: 90,807,534	I798F	possibly damaging	Het
Cpxcr1	T	A	X: 116,478,061	L223*	probably null	Het
Cpz	C	A	5: 35,502,558	R581L	possibly damaging	Het
Cxcr2	A	G	1: 74,159,279	I311V	probably benign	Het
Cym	T	A	3: 107,218,714	I78F	probably benign	Het
Defb8	A	T	8: 19,445,883	S54T	probably benign	Het
Dennd4a	A	G	9: 64,862,030	T433A	probably damaging	Het
Dhx29	A	G	13: 112,948,281	T678A	probably damaging	Het
Dspp	T	C	5: 104,174,085		probably null	Het
Enkur	G	T	2: 21,189,177	A195E	probably benign	Het
Ero1lb	T	A	13: 12,604,403	S429T	possibly damaging	Het
Fh1	A	G	1: 175,607,886	S344P	probably damaging	Het
Flnc	G	T	6: 29,443,479	G553V	probably damaging	Het
Fmo1	A	T	1: 162,829,985	L529*	probably null	Het
Frem1	C	A	4: 82,950,500	V1415F	probably damaging	Het
Gatb	T	G	3: 85,618,877	L354R	probably damaging	Het
Gdpgp1	A	T	7: 80,238,601	N127Y	probably damaging	Het
Gm11492	T	A	11: 87,568,915	D496E	probably damaging	Het
Gm13084	T	C	4: 143,812,826	I32M	probably benign	Het
Gm13212	T	G	4: 145,624,250		probably benign	Het
Gpat2	A	G	2: 127,434,819	T648A	possibly damaging	Het
Grk6	C	T	13: 55,451,778	R225*	probably null	Het
Hells	A	T	19: 38,959,676	Q682L	probably null	Het
Hspa5	T	A	2: 34,774,678	N381K	possibly damaging	Het
Ipo11	A	T	13: 106,812,257	V914E	possibly damaging	Het
Lars	T	C	18: 42,212,608	N1001S	probably benign	Het
Lats2	A	G	14: 57,697,455	L606P	probably damaging	Het
Map4k1	T	C	7: 28,999,784	Y521H	probably benign	Het
March11	T	A	15: 26,387,830	V257E	probably damaging	Het
Med23	G	A	10: 24,910,870		probably null	Het
Meltf	A	G	16: 31,896,577	D696G	probably benign	Het
Ms4a7	T	A	19: 11,324,424	M212L	probably benign	Het
Mx1	A	T	16: 97,448,203	L608Q	probably damaging	Het
Myh1	T	C	11: 67,204,398	Y195H	probably damaging	Het
Napb	G	T	2: 148,706,989	H110Q	probably benign	Het
Ngly1	C	T	14: 16,260,585	P90S	probably damaging	Het
Nlrp1b	T	A	11: 71,182,616	I134L	possibly damaging	Het
Nup210	A	G	6: 91,016,054	L1017P	probably damaging	Het
Nup85	T	A	11: 115,581,817	I233N	probably damaging	Het
Obsl1	A	G	1: 75,492,893	V965A	probably damaging	Het
Olfr1259	A	C	2: 89,943,814	Y100*	probably null	Het
Olfr1310	T	C	2: 112,008,691	D165G	probably benign	Het
Olfr787	T	C	10: 129,463,501	L275P	probably damaging	Het
Pak1ip1	A	G	13: 41,011,232	T264A	possibly damaging	Het
Pard6g	C	T	18: 80,117,142	R157C	probably damaging	Het
Pcdhb7	A	T	18: 37,342,578	T256S	possibly damaging	Het
Phrf1	T	C	7: 141,240,918	F153L	probably damaging	Het
Pigw	A	T	11: 84,878,048	F152I	probably damaging	Het
Pip4k2c	A	G	10: 127,200,875	S222P	probably damaging	Het
Pjvk	A	G	2: 76,657,431		probably null	Het
Plxnd1	C	T	6: 115,963,914	V1355M	probably damaging	Het
Prss22	G	A	17: 23,996,314	P163S	probably damaging	Het
Prune2	A	G	19: 17,199,139	I154V	probably damaging	Het
Rapgef6	T	A	11: 54,642,811	D362E	probably benign	Het
Retreg2	A	G	1: 75,146,675	K416E	probably benign	Het
Scn7a	T	C	2: 66,680,291	I1256V	probably benign	Het
Sema4d	A	G	13: 51,711,222	V362A	possibly damaging	Het
Slc25a34	G	A	4: 141,622,268	T192I	probably benign	Het
Tacc3	G	T	5: 33,668,200	V425L	probably benign	Het
Tfdp2	A	T	9: 96,297,709	K125I	probably damaging	Het
Tjp2	C	T	19: 24,099,535	R952Q	possibly damaging	Het
Tk2	G	T	8: 104,248,445	S30*	probably null	Het
Tmem74	A	T	15: 43,867,163	D161E	probably benign	Het
Tmprss9	G	A	10: 80,892,285	V570M	probably damaging	Het
Tnk2	C	A	16: 32,679,462	P26Q	probably damaging	Het
Tnpo2	T	G	8: 85,051,772	V610G	probably damaging	Het
Trim37	T	C	11: 87,218,306	F953S	probably damaging	Het
U2surp	T	A	9: 95,482,097	K589*	probably null	Het
Usp2	G	A	9: 44,075,966	R187H	probably benign	Het
Vmn2r1	C	T	3: 64,101,505	T535I	probably benign	Het
Wdr20rt	T	A	12: 65,227,151	S463T	possibly damaging	Het
Zbtb25	C	A	12: 76,349,714	G245W	probably damaging	Het
Zc3h14	T	A	12: 98,760,354	L27*	probably null	Het
Zfp2	T	C	11: 50,901,088	K43E	probably benign	Het
Zfp654	A	G	16: 64,785,128	Y904H	probably benign	Het

Other mutations in Ighmbp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00423:Ighmbp2	APN	19	3268704	missense	probably benign	0.02
IGL01160:Ighmbp2	APN	19	3276750	splice site	probably benign
IGL01358:Ighmbp2	APN	19	3268817	missense	probably damaging	1.00
IGL01478:Ighmbp2	APN	19	3274531	missense	probably benign	0.04
IGL01509:Ighmbp2	APN	19	3268711	missense	possibly damaging	0.90
IGL01557:Ighmbp2	APN	19	3281472	missense	probably benign	0.13
IGL01635:Ighmbp2	APN	19	3267265	missense	possibly damaging	0.94
IGL01712:Ighmbp2	APN	19	3273038	splice site	probably benign
IGL01949:Ighmbp2	APN	19	3265538	missense	probably benign	0.01
IGL03106:Ighmbp2	APN	19	3273022	missense	possibly damaging	0.87
IGL03212:Ighmbp2	APN	19	3279942	missense	probably damaging	1.00
R0038:Ighmbp2	UTSW	19	3262097	missense	probably damaging	0.96
R0455:Ighmbp2	UTSW	19	3265072	missense	probably benign	0.34
R1661:Ighmbp2	UTSW	19	3267246	missense	probably damaging	1.00
R1756:Ighmbp2	UTSW	19	3268669	missense	probably damaging	0.99
R2055:Ighmbp2	UTSW	19	3265095	missense	probably benign	0.00
R2194:Ighmbp2	UTSW	19	3265116	missense	probably benign	0.00
R3838:Ighmbp2	UTSW	19	3271658	missense	probably benign	0.01
R4409:Ighmbp2	UTSW	19	3271536	missense	probably benign
R4583:Ighmbp2	UTSW	19	3265324	missense	probably benign	0.01
R4806:Ighmbp2	UTSW	19	3261589	missense	probably damaging	1.00
R5091:Ighmbp2	UTSW	19	3265084	missense	possibly damaging	0.55
R5274:Ighmbp2	UTSW	19	3265518	missense	probably damaging	1.00
R5319:Ighmbp2	UTSW	19	3271646	missense	probably damaging	0.99
R5500:Ighmbp2	UTSW	19	3268687	missense	possibly damaging	0.69
R5574:Ighmbp2	UTSW	19	3271536	missense	probably benign
R5698:Ighmbp2	UTSW	19	3274538	missense	probably damaging	1.00
R5722:Ighmbp2	UTSW	19	3279909	missense	probably damaging	1.00
R5864:Ighmbp2	UTSW	19	3261467	missense	probably benign	0.00
R5980:Ighmbp2	UTSW	19	3265295	missense	probably benign
R6194:Ighmbp2	UTSW	19	3262003	missense	possibly damaging	0.90
R6939:Ighmbp2	UTSW	19	3276907	missense	probably damaging	0.97
R7051:Ighmbp2	UTSW	19	3261462	missense	probably damaging	0.98
R7147:Ighmbp2	UTSW	19	3271676	missense	probably benign	0.05
R7257:Ighmbp2	UTSW	19	3266405	missense	probably damaging	1.00
R7274:Ighmbp2	UTSW	19	3264951	missense	probably benign
R7567:Ighmbp2	UTSW	19	3272981	missense	probably benign	0.01
R7737:Ighmbp2	UTSW	19	3274467	missense	unknown
R7819:Ighmbp2	UTSW	19	3267276	missense	possibly damaging	0.46
R7877:Ighmbp2	UTSW	19	3261490	missense	probably damaging	1.00
R8175:Ighmbp2	UTSW	19	3266365	missense	possibly damaging	0.47
R8417:Ighmbp2	UTSW	19	3261590	missense	probably damaging	1.00
R8951:Ighmbp2	UTSW	19	3268726	nonsense	probably null
R9171:Ighmbp2	UTSW	19	3265641	missense	possibly damaging	0.95
R9409:Ighmbp2	UTSW	19	3268832	missense	possibly damaging	0.47
R9567:Ighmbp2	UTSW	19	3282785	start codon destroyed	probably null	0.99
R9663:Ighmbp2	UTSW	19	3265325	missense	probably benign	0.27
R9752:Ighmbp2	UTSW	19	3274360	missense	probably benign	0.00
Z1177:Ighmbp2	UTSW	19	3265635	missense	probably damaging	1.00
Z1177:Ighmbp2	UTSW	19	3267242	missense	probably null	1.00
Z1177:Ighmbp2	UTSW	19	3271665	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CCCTCAGCAAAGGTGTACTCATC -3'
(R):5'- GAATCCCACCAAGGACTGTG -3'

Sequencing Primer
(F):5'- AGCAAAGGTGTACTCATCTCCTTGG -3'
(R):5'- TGTGGAGGTAGGGCATCCC -3'

Posted On

2014-06-23