Mutagenetix > Incidental Mutation

Incidental Mutation 'R5574:Ighmbp2'

437141

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

043129-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5574 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3260924-3283017 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 3271536 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 408 (V408I)

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 benign
Transcript: ENSMUST00000025751
AA Change: V408I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000025751
Gene: ENSMUSG00000024831
AA Change: V408I

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: V408I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000113438
Gene: ENSMUSG00000024831
AA Change: V408I

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

Meta Mutation Damage Score

0.0616

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.6%

Validation Efficiency

99% (68/69)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700129C05Rik	T	A	14: 59,142,756	N31I	possibly damaging	Het
3110002H16Rik	CTGTGTGTT	CTGTGTGTTGTGTGTT	18: 12,185,006		probably null	Het
Acvr1b	T	A	15: 101,202,077	M304K	probably benign	Het
Adamts1	G	T	16: 85,799,642	D106E	probably damaging	Het
Blm	C	A	7: 80,499,773	C696F	probably damaging	Het
Bnip3l-ps	T	A	12: 18,217,118		noncoding transcript	Het
C87499	T	G	4: 88,628,043	E354A	probably benign	Het
Ccdc171	A	T	4: 83,693,753	N895I	probably damaging	Het
Cdhr4	A	T	9: 107,993,328		probably benign	Het
Cfap97	T	C	8: 46,170,142	S190P	probably damaging	Het
Chrnb1	A	C	11: 69,793,683		probably benign	Het
Clns1a	A	G	7: 97,720,958		probably benign	Het
Col8a2	G	A	4: 126,311,268		probably benign	Het
Cr2	T	A	1: 195,141,236	E721V	probably damaging	Het
Csk	A	G	9: 57,629,301	V172A	probably benign	Het
Cyp2g1	G	A	7: 26,820,740	V466M	possibly damaging	Het
Cyp4f13	A	G	17: 32,929,205	Y349H	probably benign	Het
Dnm1l	T	C	16: 16,329,821	Y205C	probably damaging	Het
Dync1i2	A	T	2: 71,233,650	T113S	probably benign	Het
Edem2	T	C	2: 155,716,155	E186G	probably damaging	Het
Eya2	G	A	2: 165,763,816	R380H	probably damaging	Het
Fam214a	A	T	9: 75,010,390	D757V	probably damaging	Het
Fam60a	C	T	6: 148,944,880		probably benign	Het
Gldn	A	G	9: 54,312,922	T132A	probably damaging	Het
Gm13941	A	T	2: 111,100,606	I74K	unknown	Het
Gm3898	C	T	9: 43,830,042		noncoding transcript	Het
Klhdc10	C	T	6: 30,439,865	L127F	possibly damaging	Het
Letm1	G	A	5: 33,769,386	T189M	possibly damaging	Het
Lrrc17	A	T	5: 21,570,357	I306F	possibly damaging	Het
Lrrk2	T	A	15: 91,787,016	V2000E	probably damaging	Het
Mettl9	A	T	7: 121,047,870	E66D	probably benign	Het
Mroh1	T	A	15: 76,433,931	V877D	probably benign	Het
Mycbp2	C	T	14: 103,142,767	V3760M	possibly damaging	Het
Nos3	A	G	5: 24,368,861	T208A	possibly damaging	Het
Npdc1	G	A	2: 25,408,945	D284N	probably damaging	Het
Obp2a	A	T	2: 25,700,830	T70S	possibly damaging	Het
Olfr1040	T	C	2: 86,146,191	D181G	probably damaging	Het
Olfr1100	A	G	2: 86,978,523	V91A	probably benign	Het
Olfr1245	C	T	2: 89,574,977	V250I	possibly damaging	Het
Olfr145	A	T	9: 37,897,581	Y59F	probably damaging	Het
Olfr69	T	G	7: 103,768,116	I94L	possibly damaging	Het
Pate2	A	G	9: 35,686,115		probably benign	Het
Pdzph1	A	G	17: 58,973,947	F447L	probably benign	Het
Pias1	A	G	9: 62,920,493	C211R	probably damaging	Het
Plb1	A	G	5: 32,329,947	S929G	probably benign	Het
Prc1	G	A	7: 80,294,542		probably benign	Het
Prex2	A	G	1: 11,140,058	D574G	probably damaging	Het
Rapgef4	G	A	2: 72,034,120		probably null	Het
Rock2	T	C	12: 16,961,641	M690T	possibly damaging	Het
Slc18a2	A	G	19: 59,261,405	I25V	probably benign	Het
Slc9a5	T	A	8: 105,364,691	I701K	probably benign	Het
Sorcs1	T	A	19: 50,222,133	N765Y	probably damaging	Het
Ssh2	A	T	11: 77,450,115	I698L	probably benign	Het
Stam	A	G	2: 14,115,864	D58G	probably damaging	Het
Thsd4	C	A	9: 59,972,400	R1018L	probably damaging	Het
Tnxb	A	G	17: 34,711,024	T2911A	probably benign	Het
Trpm7	A	C	2: 126,813,030	F1329L	probably benign	Het
Ttll9	A	G	2: 152,984,248	E126G	possibly damaging	Het
Tubgcp5	G	A	7: 55,805,329	V258M	probably benign	Het
Unc45a	G	A	7: 80,334,856	A232V	probably damaging	Het
Utp14b	G	A	1: 78,666,409	V675M	probably damaging	Het
Vmn2r67	T	A	7: 85,151,891	H279L	probably benign	Het
Vmn2r75	G	T	7: 86,166,302	A118E	probably benign	Het
Wdr36	A	T	18: 32,865,959	Q886L	probably damaging	Het
Zfp433	T	A	10: 81,719,291	Y27*	probably null	Het
Zfp715	A	T	7: 43,311,039	S43T	possibly damaging	Het
Zfyve26	A	G	12: 79,239,924	S2297P	possibly damaging	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
R1851:Ighmbp2	UTSW	19	3262075	missense	probably benign	0.12
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
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'- TGGTGAAGGACTAACAGCCAC -3'
(R):5'- CCCATGACCTTCGATATTGTAGATTC -3'

Sequencing Primer
(F):5'- CACTGCAGAGCCCACAGTG -3'
(R):5'- AGTGAGCCAGCTTGGTTTCC -3'

Posted On

2016-10-26