Mutagenetix > Incidental Mutation

Incidental Mutation 'R5980:Ighmbp2'

481406

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

044162-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5980 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3260924-3283017 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 3265295 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 708 (H708Q)

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: H708Q

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

SMART Domains

Protein: ENSMUSP00000025751
Gene: ENSMUSG00000024831
AA Change: H708Q

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: H708Q

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

SMART Domains

Protein: ENSMUSP00000113438
Gene: ENSMUSG00000024831
AA Change: H708Q

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

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.2%

Validation Efficiency

96% (50/52)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	C	6: 128,567,055	N508D	possibly damaging	Het
Ago1	C	T	4: 126,460,569		probably benign	Het
Apol6	A	T	15: 77,051,019	T163S	possibly damaging	Het
Arhgap27	T	C	11: 103,356,269	T33A	probably benign	Het
Atg7	C	A	6: 114,680,236	F132L	possibly damaging	Het
Cep104	C	A	4: 153,988,473	A396E	probably benign	Het
Cers4	T	A	8: 4,518,269	C107*	probably null	Het
Cntn6	T	C	6: 104,848,132	S878P	probably damaging	Het
Dnah6	T	C	6: 73,181,722	K633E	probably benign	Het
Dst	T	A	1: 34,182,891	I2592K	probably benign	Het
Ep400	G	A	5: 110,733,729		probably benign	Het
Fbn1	A	G	2: 125,315,404	C2320R	probably damaging	Het
Gm17677	A	C	9: 35,741,615	D51A	probably damaging	Het
Gpi1	A	G	7: 34,228,926		probably null	Het
Gse1	T	G	8: 120,229,637		probably benign	Het
Hid1	G	A	11: 115,350,948	T612I	possibly damaging	Het
Igkv10-95	T	C	6: 68,680,589	S10P	probably damaging	Het
Igkv14-100	T	C	6: 68,519,025	V5A	probably benign	Het
Irgq	G	A	7: 24,533,345	G204S	probably damaging	Het
Kansl1	T	C	11: 104,343,637	K681R	possibly damaging	Het
Kcnv1	C	A	15: 45,109,414	V358L	probably damaging	Het
Lrp2	A	T	2: 69,535,005	S275T	probably damaging	Het
Lysmd1	A	T	3: 95,137,908	D155V	probably damaging	Het
Magel2	A	T	7: 62,380,596	I1083F	unknown	Het
Mta3	T	A	17: 83,708,405	V12D	probably damaging	Het
Mtmr4	T	C	11: 87,604,151	I423T	probably damaging	Het
Mup11	A	G	4: 60,660,888	Y16H	possibly damaging	Het
Mycbp	G	A	4: 123,911,096	V91I	probably benign	Het
Ngly1	A	C	14: 16,270,509	Q72P	possibly damaging	Het
Nol4	T	A	18: 22,952,201	Q52L	probably damaging	Het
Nrcam	T	C	12: 44,571,633	V808A	probably damaging	Het
Olfr1058	A	T	2: 86,385,797	L207*	probably null	Het
Olfr9	A	G	10: 128,990,440	H176R	probably damaging	Het
Olfr993	A	T	2: 85,414,165	F238Y	probably damaging	Het
Pik3c2b	C	A	1: 133,088,308	D869E	probably benign	Het
Pom121l2	T	C	13: 21,983,376	S606P	probably damaging	Het
Prdm15	G	A	16: 97,812,570	R517*	probably null	Het
Ralgapa1	T	A	12: 55,770,616		probably null	Het
Saraf	T	A	8: 34,165,387	F207I	probably benign	Het
Sema6d	A	G	2: 124,664,708	D874G	probably damaging	Het
Sfrp5	A	T	19: 42,201,972	L14M	unknown	Het
Sidt1	A	T	16: 44,263,312	C485*	probably null	Het
Sptbn4	A	G	7: 27,372,171	Y1618H	probably damaging	Het
Syt14	T	C	1: 192,980,408	Q127R	possibly damaging	Het
Tbc1d2	C	T	4: 46,629,912	G252R	probably benign	Het
Ticrr	G	A	7: 79,660,955	A206T	probably damaging	Het
Tmem132d	T	A	5: 127,784,598	I820F	probably benign	Het
Trafd1	A	G	5: 121,373,457	Y433H	probably damaging	Het
Trim68	A	G	7: 102,678,831	V305A	probably damaging	Het
Vmn2r58	T	A	7: 41,865,056	Y163F	possibly damaging	Het
Vmn2r83	T	A	10: 79,478,792	H291Q	probably benign	Het
Vmn2r95	A	G	17: 18,441,362	I457V	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
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
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'- CCGAACTCCTCAGCTAACTG -3'
(R):5'- TATTTCACAGAGCATGGGGAGG -3'

Sequencing Primer
(F):5'- GAACTCCTCAGCTAACTGGTGGAC -3'
(R):5'- GCACAGCCTTTGAATACCTGGATG -3'

Posted On

2017-06-26