Mutagenetix > Incidental Mutation

Incidental Mutation 'R1756:Ighmbp2'

194913

Institutional Source

Beutler Lab

Gene Symbol

Ighmbp2

Ensembl Gene

ENSMUSG00000024831

Gene Name

immunoglobulin mu DNA binding protein 2

Synonyms

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

MMRRC Submission

039788-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1756 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3309076-3333011 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 3318669 bp (GRCm39)

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
A330008L17Rik	C	A	8: 100,148,514 (GRCm39)		noncoding transcript	Het
Acin1	A	G	14: 54,902,661 (GRCm39)	V377A	probably benign	Het
Adam39	A	T	8: 41,278,361 (GRCm39)	I251F	probably damaging	Het
Adnp2	A	T	18: 80,170,912 (GRCm39)	*1166K	probably null	Het
Akap12	T	A	10: 4,307,574 (GRCm39)	D1461E	probably benign	Het
Aopep	T	A	13: 63,215,875 (GRCm39)	H382Q	possibly damaging	Het
Apba1	A	G	19: 23,871,056 (GRCm39)	D296G	possibly damaging	Het
Apol7a	G	T	15: 77,277,671 (GRCm39)	L26M	possibly damaging	Het
Bcl2	C	T	1: 106,640,122 (GRCm39)	M163I	probably damaging	Het
Cap2	T	G	13: 46,684,489 (GRCm39)	I53R	probably benign	Het
Ccdc74a	T	C	16: 17,468,332 (GRCm39)	V318A	possibly damaging	Het
Ccnb2	A	G	9: 70,318,070 (GRCm39)	V234A	probably benign	Het
Cd207	C	T	6: 83,652,579 (GRCm39)	V184I	probably benign	Het
Cdk12	C	A	11: 98,132,587 (GRCm39)	C1005*	probably null	Het
Cep83	T	C	10: 94,586,129 (GRCm39)	S344P	probably damaging	Het
Ces1g	A	T	8: 94,033,582 (GRCm39)	Y447N	probably benign	Het
Cfap54	A	T	10: 92,883,923 (GRCm39)	L277Q	probably damaging	Het
Cfh	A	G	1: 140,028,615 (GRCm39)	Y1027H	probably damaging	Het
Clcnkb	T	A	4: 141,142,525 (GRCm39)	I28F	possibly damaging	Het
Clec4d	A	G	6: 123,244,068 (GRCm39)	D59G	probably damaging	Het
Colq	G	A	14: 31,269,409 (GRCm39)	P153S	probably damaging	Het
Crybg1	T	A	10: 43,862,275 (GRCm39)	T1500S	probably damaging	Het
Cyp2d34	T	A	15: 82,501,725 (GRCm39)	R262W	probably damaging	Het
Dennd4b	C	G	3: 90,178,912 (GRCm39)	L559V	probably damaging	Het
Dhrs1	A	G	14: 55,976,766 (GRCm39)	V306A	probably benign	Het
Diaph1	A	T	18: 37,987,626 (GRCm39)	D1043E	possibly damaging	Het
Dis3	G	T	14: 99,323,539 (GRCm39)	D538E	probably damaging	Het
Dnai2	T	G	11: 114,641,206 (GRCm39)	S344A	probably benign	Het
Dner	C	T	1: 84,423,311 (GRCm39)	V431M	probably damaging	Het
Dnm1l	A	G	16: 16,160,559 (GRCm39)		probably null	Het
Eps15	T	G	4: 109,170,115 (GRCm39)	L139*	probably null	Het
Fam193a	T	A	5: 34,623,636 (GRCm39)	I55N	possibly damaging	Het
Gm10308	T	A	17: 91,396,385 (GRCm39)	Y102*	probably null	Het
Gm10509	A	G	17: 21,909,762 (GRCm39)	K30E	possibly damaging	Het
Gpr155	T	C	2: 73,197,921 (GRCm39)	M400V	probably benign	Het
H2-M10.2	T	C	17: 36,597,015 (GRCm39)		probably benign	Het
Heatr1	G	T	13: 12,411,341 (GRCm39)	A61S	probably benign	Het
Helb	G	T	10: 119,930,147 (GRCm39)	T744K	probably damaging	Het
Hmcn1	C	A	1: 150,474,781 (GRCm39)	W4702L	probably damaging	Het
Hmcn2	C	T	2: 31,286,132 (GRCm39)	R2095W	probably damaging	Het
Igfbp3	G	C	11: 7,158,461 (GRCm39)	D267E	probably damaging	Het
Kcnj3	A	C	2: 55,327,232 (GRCm39)	K7T	probably damaging	Het
Krtap5-5	T	G	7: 141,783,358 (GRCm39)	K97N	unknown	Het
Lcor	T	C	19: 41,547,705 (GRCm39)	S430P	probably benign	Het
Lpin1	A	G	12: 16,588,541 (GRCm39)	V883A	probably damaging	Het
Lrp1b	T	C	2: 41,000,837 (GRCm39)	Y2243C	probably damaging	Het
Lrrc46	G	A	11: 96,925,556 (GRCm39)		probably benign	Het
Man1c1	G	C	4: 134,430,749 (GRCm39)	P11R	probably damaging	Het
Mpdz	C	T	4: 81,225,114 (GRCm39)	V1438M	possibly damaging	Het
Muc21	A	T	17: 35,930,131 (GRCm39)		probably benign	Het
Ncbp1	T	A	4: 46,169,131 (GRCm39)	L635*	probably null	Het
Nipbl	T	C	15: 8,368,035 (GRCm39)	N1202D	possibly damaging	Het
Nphs1	A	G	7: 30,160,959 (GRCm39)	D196G	probably benign	Het
Nup58	A	T	14: 60,482,119 (GRCm39)		probably benign	Het
Or2b2b	A	G	13: 21,858,865 (GRCm39)	I83T	probably benign	Het
Or8b42	A	T	9: 38,342,291 (GRCm39)	I238F	probably benign	Het
Or8k16	A	G	2: 85,520,427 (GRCm39)	Y218C	probably damaging	Het
Pax8	A	T	2: 24,325,833 (GRCm39)	N350K	probably damaging	Het
Pik3cd	T	C	4: 149,743,207 (GRCm39)	K298E	probably benign	Het
Pkd1	C	T	17: 24,813,459 (GRCm39)	R4000C	probably damaging	Het
Pkn2	A	T	3: 142,516,488 (GRCm39)	V546D	possibly damaging	Het
Plcg2	A	G	8: 118,319,447 (GRCm39)	K673E	probably benign	Het
Pld4	T	G	12: 112,729,826 (GRCm39)		probably null	Het
Plek	A	T	11: 16,942,901 (GRCm39)	N130K	probably damaging	Het
Prune2	G	A	19: 17,101,068 (GRCm39)	D2191N	probably benign	Het
Ptgis	T	C	2: 167,048,723 (GRCm39)	Y431C	probably damaging	Het
Rhbdf2	T	C	11: 116,498,092 (GRCm39)	S36G	probably benign	Het
Rtn4ip1	C	T	10: 43,786,826 (GRCm39)	A178V	probably damaging	Het
Rxfp1	A	G	3: 79,578,188 (GRCm39)	S168P	probably benign	Het
Sec24a	A	G	11: 51,624,590 (GRCm39)		probably benign	Het
Shf	G	A	2: 122,199,163 (GRCm39)	P51S	probably damaging	Het
Slitrk6	C	T	14: 110,987,984 (GRCm39)	M574I	probably benign	Het
Slk	T	C	19: 47,611,116 (GRCm39)	F861L	probably damaging	Het
Smpd3	C	A	8: 106,991,603 (GRCm39)	A317S	probably benign	Het
Spopfm1	A	T	3: 94,173,525 (GRCm39)	M174L	probably benign	Het
Spz1	T	A	13: 92,711,633 (GRCm39)	Q281L	probably damaging	Het
Syde1	T	A	10: 78,422,814 (GRCm39)	R519S	probably benign	Het
Taf4	T	C	2: 179,618,324 (GRCm39)	H39R	unknown	Het
Tbx5	A	T	5: 119,983,178 (GRCm39)		probably null	Het
Tektl1	T	A	10: 78,583,031 (GRCm39)	K451M	probably damaging	Het
Tenm2	C	T	11: 35,954,004 (GRCm39)	G1236R	possibly damaging	Het
Th	G	A	7: 142,451,903 (GRCm39)	Q19*	probably null	Het
Tmprss11a	T	A	5: 86,568,038 (GRCm39)	I230F	probably damaging	Het
Tnfrsf14	T	A	4: 155,009,779 (GRCm39)	H50L	possibly damaging	Het
Tpp2	T	A	1: 44,017,885 (GRCm39)		probably null	Het
Trappc9	G	A	15: 72,897,816 (GRCm39)	R377W	probably damaging	Het
Trim2	A	G	3: 84,098,107 (GRCm39)	I398T	possibly damaging	Het
Trpc5	A	T	X: 143,264,222 (GRCm39)	S212T	probably damaging	Het
Ttn	A	G	2: 76,617,678 (GRCm39)		probably benign	Het
Unc80	A	G	1: 66,678,407 (GRCm39)	T2063A	possibly damaging	Het
Usp37	A	T	1: 74,518,814 (GRCm39)	S260T	probably benign	Het
Vcan	A	G	13: 89,839,800 (GRCm39)	S1915P	probably benign	Het
Vmn1r33	T	A	6: 66,589,282 (GRCm39)	I91F	possibly damaging	Het
Zfp422	T	C	6: 116,603,385 (GRCm39)	T205A	probably benign	Het

Other mutations in Ighmbp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00423:Ighmbp2	APN	19	3,318,704 (GRCm39)	missense	probably benign	0.02
IGL01160:Ighmbp2	APN	19	3,326,750 (GRCm39)	splice site	probably benign
IGL01358:Ighmbp2	APN	19	3,318,817 (GRCm39)	missense	probably damaging	1.00
IGL01478:Ighmbp2	APN	19	3,324,531 (GRCm39)	missense	probably benign	0.04
IGL01509:Ighmbp2	APN	19	3,318,711 (GRCm39)	missense	possibly damaging	0.90
IGL01557:Ighmbp2	APN	19	3,331,472 (GRCm39)	missense	probably benign	0.13
IGL01635:Ighmbp2	APN	19	3,317,265 (GRCm39)	missense	possibly damaging	0.94
IGL01712:Ighmbp2	APN	19	3,323,038 (GRCm39)	splice site	probably benign
IGL01949:Ighmbp2	APN	19	3,315,538 (GRCm39)	missense	probably benign	0.01
IGL03106:Ighmbp2	APN	19	3,323,022 (GRCm39)	missense	possibly damaging	0.87
IGL03212:Ighmbp2	APN	19	3,329,942 (GRCm39)	missense	probably damaging	1.00
R0038:Ighmbp2	UTSW	19	3,312,097 (GRCm39)	missense	probably damaging	0.96
R0455:Ighmbp2	UTSW	19	3,315,072 (GRCm39)	missense	probably benign	0.34
R1661:Ighmbp2	UTSW	19	3,317,246 (GRCm39)	missense	probably damaging	1.00
R1851:Ighmbp2	UTSW	19	3,312,075 (GRCm39)	missense	probably benign	0.12
R2055:Ighmbp2	UTSW	19	3,315,095 (GRCm39)	missense	probably benign	0.00
R2194:Ighmbp2	UTSW	19	3,315,116 (GRCm39)	missense	probably benign	0.00
R3838:Ighmbp2	UTSW	19	3,321,658 (GRCm39)	missense	probably benign	0.01
R4409:Ighmbp2	UTSW	19	3,321,536 (GRCm39)	missense	probably benign
R4583:Ighmbp2	UTSW	19	3,315,324 (GRCm39)	missense	probably benign	0.01
R4806:Ighmbp2	UTSW	19	3,311,589 (GRCm39)	missense	probably damaging	1.00
R5091:Ighmbp2	UTSW	19	3,315,084 (GRCm39)	missense	possibly damaging	0.55
R5274:Ighmbp2	UTSW	19	3,315,518 (GRCm39)	missense	probably damaging	1.00
R5319:Ighmbp2	UTSW	19	3,321,646 (GRCm39)	missense	probably damaging	0.99
R5500:Ighmbp2	UTSW	19	3,318,687 (GRCm39)	missense	possibly damaging	0.69
R5574:Ighmbp2	UTSW	19	3,321,536 (GRCm39)	missense	probably benign
R5698:Ighmbp2	UTSW	19	3,324,538 (GRCm39)	missense	probably damaging	1.00
R5722:Ighmbp2	UTSW	19	3,329,909 (GRCm39)	missense	probably damaging	1.00
R5864:Ighmbp2	UTSW	19	3,311,467 (GRCm39)	missense	probably benign	0.00
R5980:Ighmbp2	UTSW	19	3,315,295 (GRCm39)	missense	probably benign
R6194:Ighmbp2	UTSW	19	3,312,003 (GRCm39)	missense	possibly damaging	0.90
R6939:Ighmbp2	UTSW	19	3,326,907 (GRCm39)	missense	probably damaging	0.97
R7051:Ighmbp2	UTSW	19	3,311,462 (GRCm39)	missense	probably damaging	0.98
R7147:Ighmbp2	UTSW	19	3,321,676 (GRCm39)	missense	probably benign	0.05
R7257:Ighmbp2	UTSW	19	3,316,405 (GRCm39)	missense	probably damaging	1.00
R7274:Ighmbp2	UTSW	19	3,314,951 (GRCm39)	missense	probably benign
R7567:Ighmbp2	UTSW	19	3,322,981 (GRCm39)	missense	probably benign	0.01
R7737:Ighmbp2	UTSW	19	3,324,467 (GRCm39)	missense	unknown
R7819:Ighmbp2	UTSW	19	3,317,276 (GRCm39)	missense	possibly damaging	0.46
R7877:Ighmbp2	UTSW	19	3,311,490 (GRCm39)	missense	probably damaging	1.00
R8175:Ighmbp2	UTSW	19	3,316,365 (GRCm39)	missense	possibly damaging	0.47
R8417:Ighmbp2	UTSW	19	3,311,590 (GRCm39)	missense	probably damaging	1.00
R8951:Ighmbp2	UTSW	19	3,318,726 (GRCm39)	nonsense	probably null
R9171:Ighmbp2	UTSW	19	3,315,641 (GRCm39)	missense	possibly damaging	0.95
R9409:Ighmbp2	UTSW	19	3,318,832 (GRCm39)	missense	possibly damaging	0.47
R9567:Ighmbp2	UTSW	19	3,332,785 (GRCm39)	start codon destroyed	probably null	0.99
R9663:Ighmbp2	UTSW	19	3,315,325 (GRCm39)	missense	probably benign	0.27
R9752:Ighmbp2	UTSW	19	3,324,360 (GRCm39)	missense	probably benign	0.00
Z1177:Ighmbp2	UTSW	19	3,321,665 (GRCm39)	nonsense	probably null
Z1177:Ighmbp2	UTSW	19	3,317,242 (GRCm39)	missense	probably null	1.00
Z1177:Ighmbp2	UTSW	19	3,315,635 (GRCm39)	missense	probably damaging	1.00

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