Mutagenetix > Incidental Mutation

Incidental Mutation 'R1756:Ighmbp2'

194913

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

039788-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1756 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3260924-3283017 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 3268669 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 469 (H469L)

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: H469L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000025751
Gene: ENSMUSG00000024831
AA Change: H469L

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: H469L

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000113438
Gene: ENSMUSG00000024831
AA Change: H469L

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

0.5578

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.5%
20x: 93.0%

Validation Efficiency

100% (96/96)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	T	A	13: 63,068,061	H382Q	possibly damaging	Het
A330008L17Rik	C	A	8: 99,421,882		noncoding transcript	Het
Acin1	A	G	14: 54,665,204	V377A	probably benign	Het
Adam39	A	T	8: 40,825,324	I251F	probably damaging	Het
Adnp2	A	T	18: 80,127,697	*1166K	probably null	Het
Akap12	T	A	10: 4,357,574	D1461E	probably benign	Het
Apba1	A	G	19: 23,893,692	D296G	possibly damaging	Het
Apol7a	G	T	15: 77,393,471	L26M	possibly damaging	Het
Bcl2	C	T	1: 106,712,392	M163I	probably damaging	Het
Cap2	T	G	13: 46,531,013	I53R	probably benign	Het
Ccdc105	T	A	10: 78,747,197	K451M	probably damaging	Het
Ccdc74a	T	C	16: 17,650,468	V318A	possibly damaging	Het
Ccnb2	A	G	9: 70,410,788	V234A	probably benign	Het
Cd207	C	T	6: 83,675,597	V184I	probably benign	Het
Cdk12	C	A	11: 98,241,761	C1005*	probably null	Het
Cep83	T	C	10: 94,750,267	S344P	probably damaging	Het
Ces1g	A	T	8: 93,306,954	Y447N	probably benign	Het
Cfap54	A	T	10: 93,048,061	L277Q	probably damaging	Het
Cfh	A	G	1: 140,100,877	Y1027H	probably damaging	Het
Clcnkb	T	A	4: 141,415,214	I28F	possibly damaging	Het
Clec4d	A	G	6: 123,267,109	D59G	probably damaging	Het
Colq	G	A	14: 31,547,452	P153S	probably damaging	Het
Crybg1	T	A	10: 43,986,279	T1500S	probably damaging	Het
Cyp2d34	T	A	15: 82,617,524	R262W	probably damaging	Het
Dennd4b	C	G	3: 90,271,605	L559V	probably damaging	Het
Dhrs1	A	G	14: 55,739,309	V306A	probably benign	Het
Diaph1	A	T	18: 37,854,573	D1043E	possibly damaging	Het
Dis3	G	T	14: 99,086,103	D538E	probably damaging	Het
Dnaic2	T	G	11: 114,750,380	S344A	probably benign	Het
Dner	C	T	1: 84,445,590	V431M	probably damaging	Het
Dnm1l	A	G	16: 16,342,695		probably null	Het
Eps15	T	G	4: 109,312,918	L139*	probably null	Het
Fam193a	T	A	5: 34,466,292	I55N	possibly damaging	Het
Gm10308	T	A	17: 91,088,957	Y102*	probably null	Het
Gm10509	A	G	17: 21,690,855	K30E	possibly damaging	Het
Gm4778	A	T	3: 94,266,218	M174L	probably benign	Het
Gm9573	A	T	17: 35,619,239		probably benign	Het
Gpr155	T	C	2: 73,367,577	M400V	probably benign	Het
H2-M10.2	T	C	17: 36,286,123		probably benign	Het
Heatr1	G	T	13: 12,396,460	A61S	probably benign	Het
Helb	G	T	10: 120,094,242	T744K	probably damaging	Het
Hmcn1	C	A	1: 150,599,030	W4702L	probably damaging	Het
Hmcn2	C	T	2: 31,396,120	R2095W	probably damaging	Het
Igfbp3	G	C	11: 7,208,461	D267E	probably damaging	Het
Kcnj3	A	C	2: 55,437,220	K7T	probably damaging	Het
Krtap5-5	T	G	7: 142,229,621	K97N	unknown	Het
Lcor	T	C	19: 41,559,266	S430P	probably benign	Het
Lpin1	A	G	12: 16,538,540	V883A	probably damaging	Het
Lrp1b	T	C	2: 41,110,825	Y2243C	probably damaging	Het
Lrrc46	G	A	11: 97,034,730		probably benign	Het
Man1c1	G	C	4: 134,703,438	P11R	probably damaging	Het
Mpdz	C	T	4: 81,306,877	V1438M	possibly damaging	Het
Ncbp1	T	A	4: 46,169,131	L635*	probably null	Het
Nipbl	T	C	15: 8,338,551	N1202D	possibly damaging	Het
Nphs1	A	G	7: 30,461,534	D196G	probably benign	Het
Nupl1	A	T	14: 60,244,670		probably benign	Het
Olfr1008	A	G	2: 85,690,083	Y218C	probably damaging	Het
Olfr1360	A	G	13: 21,674,695	I83T	probably benign	Het
Olfr901	A	T	9: 38,430,995	I238F	probably benign	Het
Pax8	A	T	2: 24,435,821	N350K	probably damaging	Het
Pik3cd	T	C	4: 149,658,750	K298E	probably benign	Het
Pkd1	C	T	17: 24,594,485	R4000C	probably damaging	Het
Pkn2	A	T	3: 142,810,727	V546D	possibly damaging	Het
Plcg2	A	G	8: 117,592,708	K673E	probably benign	Het
Pld4	T	G	12: 112,763,392		probably null	Het
Plek	A	T	11: 16,992,901	N130K	probably damaging	Het
Prune2	G	A	19: 17,123,704	D2191N	probably benign	Het
Ptgis	T	C	2: 167,206,803	Y431C	probably damaging	Het
Rhbdf2	T	C	11: 116,607,266	S36G	probably benign	Het
Rtn4ip1	C	T	10: 43,910,830	A178V	probably damaging	Het
Rxfp1	A	G	3: 79,670,881	S168P	probably benign	Het
Sec24a	A	G	11: 51,733,763		probably benign	Het
Shf	G	A	2: 122,368,682	P51S	probably damaging	Het
Slitrk6	C	T	14: 110,750,552	M574I	probably benign	Het
Slk	T	C	19: 47,622,677	F861L	probably damaging	Het
Smpd3	C	A	8: 106,264,971	A317S	probably benign	Het
Spz1	T	A	13: 92,575,125	Q281L	probably damaging	Het
Syde1	T	A	10: 78,586,980	R519S	probably benign	Het
Taf4	T	C	2: 179,976,531	H39R	unknown	Het
Tbx5	A	T	5: 119,845,113		probably null	Het
Tenm2	C	T	11: 36,063,177	G1236R	possibly damaging	Het
Th	G	A	7: 142,898,166	Q19*	probably null	Het
Tmprss11a	T	A	5: 86,420,179	I230F	probably damaging	Het
Tnfrsf14	T	A	4: 154,925,322	H50L	possibly damaging	Het
Tpp2	T	A	1: 43,978,725		probably null	Het
Trappc9	G	A	15: 73,025,967	R377W	probably damaging	Het
Trim2	A	G	3: 84,190,800	I398T	possibly damaging	Het
Trpc5	A	T	X: 144,481,226	S212T	probably damaging	Het
Ttn	A	G	2: 76,787,334		probably benign	Het
Unc80	A	G	1: 66,639,248	T2063A	possibly damaging	Het
Usp37	A	T	1: 74,479,655	S260T	probably benign	Het
Vcan	A	G	13: 89,691,681	S1915P	probably benign	Het
Vmn1r33	T	A	6: 66,612,298	I91F	possibly damaging	Het
Zfp422	T	C	6: 116,626,424	T205A	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
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
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'- AGAACGCAAGACTGACTTCCTTCAC -3'
(R):5'- TTTTGGATACAGGGCGGCACTG -3'

Sequencing Primer
(F):5'- ACACAGAAGGGCTGCCG -3'
(R):5'- ACGGTACAGTACCGAATGCA -3'

Posted On

2014-05-23