Mutagenetix > Incidental Mutation

Incidental Mutation 'R7257:Ighmbp2'

564380

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7257 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3260924-3283017 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3266405 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 562 (S562P)

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 damaging
Transcript: ENSMUST00000025751
AA Change: S562P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000025751
Gene: ENSMUSG00000024831
AA Change: S562P

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: S562P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113438
Gene: ENSMUSG00000024831
AA Change: S562P

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

Meta Mutation Damage Score

0.8906

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (77/77)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb1	A	T	6: 88,839,452	V120E	probably benign	Het
Acot11	G	A	4: 106,758,402	T284M	probably damaging	Het
Adk	G	T	14: 21,052,671	K11N	probably damaging	Het
Akr1c14	T	A	13: 4,088,966	N316K	probably benign	Het
AL732309.1	A	T	2: 25,245,839	V121D	probably benign	Het
Amh	C	A	10: 80,806,653	Q257K	probably benign	Het
Antxrl	T	G	14: 34,065,849	H276Q	probably benign	Het
Atp5o	G	A	16: 91,926,867	T105M	probably damaging	Het
Atp5s	T	C	12: 69,741,669	I114T	probably damaging	Het
Atxn2	T	G	5: 121,785,817	N734K	possibly damaging	Het
B3gat3	T	A	19: 8,925,738	V153D	probably benign	Het
Brd2	A	G	17: 34,113,822	V528A	probably damaging	Het
Camk2g	T	C	14: 20,747,839	S335G	probably benign	Het
Cbln2	T	A	18: 86,716,734	W211R	probably damaging	Het
Cry2	A	T	2: 92,412,981	I505N	possibly damaging	Het
Ddx55	T	A	5: 124,560,721	C249S	possibly damaging	Het
Dglucy	A	G	12: 100,842,738	T232A	probably damaging	Het
Dhx32	A	G	7: 133,759,477	Y76H	probably benign	Het
Dock7	T	A	4: 98,973,412	N1356I	unknown	Het
Dock8	T	A	19: 25,127,085	N710K	probably benign	Het
Dync1i2	T	A	2: 71,249,356	N391K	possibly damaging	Het
Ect2	A	G	3: 27,138,535	S420P	probably damaging	Het
Efcab5	T	A	11: 77,137,779	E242V	probably damaging	Het
Fam83g	T	A	11: 61,684,753	Y74N	probably damaging	Het
Fbxo34	T	A	14: 47,500,872		probably null	Het
Flt4	A	G	11: 49,626,009	T208A	probably benign	Het
Fxyd5	T	A	7: 31,035,151	H183L	unknown	Het
Gpr150	T	G	13: 76,056,466	D120A	probably benign	Het
Grm7	A	G	6: 110,646,118	Y84C	probably damaging	Het
Itga7	A	G	10: 128,944,413	Y530C	possibly damaging	Het
Itpr3	T	A	17: 27,118,561	D2448E	probably benign	Het
Mmp17	C	A	5: 129,595,633	H216Q	probably benign	Het
Mns1	C	T	9: 72,452,815	R416W	probably damaging	Het
Mog	A	G	17: 37,023,127	S25P	unknown	Het
Myh2	A	G	11: 67,181,150	K568R	possibly damaging	Het
Myh7	A	T	14: 54,972,490		probably null	Het
Mymk	A	T	2: 27,067,368	W79R	probably damaging	Het
Ncoa4	T	G	14: 32,177,369	L623R	probably damaging	Het
Oca2	G	A	7: 56,279,538		probably benign	Het
Odam	A	C	5: 87,887,545	S123R	probably benign	Het
Olfr1155	A	G	2: 87,943,571	F19S	probably damaging	Het
Olfr263	A	G	13: 21,133,257	T161A	probably benign	Het
Olfr292	T	A	7: 86,694,804	M116K	probably damaging	Het
Olfr583	T	C	7: 103,051,630	F111L	probably benign	Het
Olfr765	C	T	10: 129,046,455	V203M	probably benign	Het
Olfr816	T	A	10: 129,912,287		probably benign	Het
Ovch2	C	T	7: 107,794,433	C162Y	probably damaging	Het
Padi1	C	A	4: 140,829,471	G142C	probably damaging	Het
Pcdhga4	A	G	18: 37,687,398	I667V	probably damaging	Het
Pfas	A	T	11: 68,992,959	V624E	probably damaging	Het
Phb	A	T	11: 95,678,091	E184V	probably damaging	Het
Phlpp2	G	T	8: 109,940,188	M1116I	probably benign	Het
Pip5kl1	T	C	2: 32,580,431		probably null	Het
Pitpnm2	T	A	5: 124,125,356	I824F	possibly damaging	Het
Pla2g4c	G	A	7: 13,325,744	S2N	possibly damaging	Het
Pla2r1	A	T	2: 60,427,625		probably null	Het
Pole2	T	C	12: 69,202,910	D521G	probably damaging	Het
Ptch1	T	C	13: 63,573,294	K54E	not run	Het
Rapgef2	A	T	3: 79,082,627	L931Q	probably damaging	Het
Rassf3	G	A	10: 121,413,019	Q206*	probably null	Het
Rnf123	T	A	9: 108,069,029	T316S	probably damaging	Het
Rnf138	T	A	18: 21,008,693		probably null	Het
Sept3	G	A	15: 82,289,213	A249T	probably damaging	Het
Slc35a4	A	T	18: 36,679,616	D3V	unknown	Het
Sltm	T	A	9: 70,543,965		probably null	Het
Smarca2	C	T	19: 26,654,464	Q560*	probably null	Het
Tcl1b1	A	T	12: 105,164,531	D91V	probably damaging	Het
Tirap	A	T	9: 35,189,034	V118E	probably damaging	Het
Tlr5	T	A	1: 182,974,233	Y367*	probably null	Het
Tmcc1	A	G	6: 116,107,338	F5L	probably benign	Het
Tnxb	A	G	17: 34,716,501	M2592V	probably benign	Het
Trim66	T	A	7: 109,460,244	E931V	probably damaging	Het
Ttn	A	G	2: 76,741,094	I26485T	probably damaging	Het
Veph1	C	A	3: 66,158,282	V455L	probably benign	Het
Vmn1r125	A	T	7: 21,272,825	H216L	probably damaging	Het
Wdr17	T	A	8: 54,632,487	E1200D	probably benign	Het
Zbtb37	T	A	1: 161,032,661	N25Y	probably 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
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
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'- GTGACTAAGTCTCTTGGGGC -3'
(R):5'- ACAAACCTCAGGGCAGCTTG -3'

Sequencing Primer
(F):5'- TAAGTCTCTTGGGGCCCACC -3'
(R):5'- GCTGCTGCTGTGGTCAC -3'

Posted On

2019-06-26