Mutagenetix > Incidental Mutation

Incidental Mutation 'R9567:Ighmbp2'

721728

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9567 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

3309076-3333011 bp(-) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

A to T at 3332785 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1 (M1K)

Ref Sequence

ENSEMBL: ENSMUSP00000025751 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025743] [ENSMUST00000025745] [ENSMUST00000025751] [ENSMUST00000119292] [ENSMUST00000141610] [ENSMUST00000154537]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000025743

SMART Domains

Protein: ENSMUSP00000025743
Gene: ENSMUSG00000024829

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
Pfam:Ribosomal_L21p	99	197	7.5e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000025745

SMART Domains

Protein: ENSMUSP00000025745
Gene: ENSMUSG00000024829

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
Pfam:Ribosomal_L21p	99	192	6e-22	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000025751
AA Change: M1K

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000025751
Gene: ENSMUSG00000024831
AA Change: M1K

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 null
Transcript: ENSMUST00000119292
AA Change: M1K

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113438
Gene: ENSMUSG00000024831
AA Change: M1K

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: ENSMUST00000141610

SMART Domains

Protein: ENSMUSP00000120330
Gene: ENSMUSG00000024829

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
PDB:4CE4\|V	14	53	1e-5	PDB

Predicted Effect

probably null
Transcript: ENSMUST00000154537
AA Change: M1K

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000122827
Gene: ENSMUSG00000024831
AA Change: M1K

Domain	Start	End	E-Value	Type
PDB:4B3F\|X	3	160	2e-80	PDB
low complexity region	230	244	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	C	T	13: 119,602,793 (GRCm39)	P52S	probably damaging	Het
6820408C15Rik	C	A	2: 152,270,867 (GRCm39)	P30Q	probably damaging	Het
Adam18	C	T	8: 25,118,210 (GRCm39)	V569I	probably benign	Het
Adnp2	A	T	18: 80,174,133 (GRCm39)	L92Q	probably damaging	Het
Ahi1	C	T	10: 20,857,300 (GRCm39)	H632Y	possibly damaging	Het
Akap9	A	G	5: 4,127,311 (GRCm39)	N3720D	possibly damaging	Het
Alpk3	T	C	7: 80,742,687 (GRCm39)	S835P	possibly damaging	Het
Amer3	C	T	1: 34,627,836 (GRCm39)	L692F	probably benign	Het
Anks6	T	A	4: 47,044,880 (GRCm39)	D342V	unknown	Het
Arap2	G	T	5: 62,761,841 (GRCm39)	F1628L	probably benign	Het
Arhgap21	T	G	2: 20,896,953 (GRCm39)	I108L	possibly damaging	Het
Cacna1h	T	C	17: 25,612,487 (GRCm39)	I404V	probably damaging	Het
Cacna2d3	G	T	14: 28,627,268 (GRCm39)	A1077E	probably benign	Het
Cacng6	T	C	7: 3,483,281 (GRCm39)	V203A	probably benign	Het
Clec1b	A	T	6: 129,382,201 (GRCm39)	D226V	possibly damaging	Het
Crb1	A	C	1: 139,171,208 (GRCm39)	S727R	probably benign	Het
Dars1	T	C	1: 128,343,112 (GRCm39)	I35V		Het
Ddo	T	A	10: 40,523,913 (GRCm39)	V301D	probably damaging	Het
Diablo	C	A	5: 123,662,196 (GRCm39)		probably benign	Het
Dipk1a	T	A	5: 108,057,368 (GRCm39)	K397*	probably null	Het
Dnhd1	C	A	7: 105,353,473 (GRCm39)	H2875Q	probably benign	Het
E230025N22Rik	A	G	18: 36,820,336 (GRCm39)	L282P		Het
Ebna1bp2	A	G	4: 118,478,190 (GRCm39)	Q21R	probably benign	Het
Exoc7	C	T	11: 116,195,724 (GRCm39)	V93I	probably benign	Het
Foxk1	T	A	5: 142,387,713 (GRCm39)	Y145*	probably null	Het
Foxo3	C	T	10: 42,073,021 (GRCm39)	V499M	probably damaging	Het
Fsip2	C	T	2: 82,798,173 (GRCm39)	T489M	probably benign	Het
Gbf1	C	T	19: 46,260,046 (GRCm39)	T1067I		Het
Ggta1	T	A	2: 35,313,333 (GRCm39)	T3S	possibly damaging	Het
Guf1	T	A	5: 69,721,951 (GRCm39)	V370E	possibly damaging	Het
Hmg20a	A	G	9: 56,384,472 (GRCm39)	S81G	probably benign	Het
Igf2r	G	A	17: 12,905,641 (GRCm39)	T2230I	probably damaging	Het
Klhdc9	T	C	1: 171,187,914 (GRCm39)	T106A	probably benign	Het
Kti12	T	C	4: 108,705,935 (GRCm39)	M283T	possibly damaging	Het
Lrig3	C	T	10: 125,845,964 (GRCm39)	P798S	probably benign	Het
Lrp8	T	C	4: 107,711,469 (GRCm39)	F333L	probably damaging	Het
Lyn	T	A	4: 3,746,757 (GRCm39)	D178E	probably benign	Het
Magi1	G	A	6: 93,655,431 (GRCm39)	A1405V	probably damaging	Het
Magi1	A	C	6: 93,659,931 (GRCm39)		probably null	Het
Mdga1	G	A	17: 30,076,569 (GRCm39)	P68S	probably damaging	Het
Mfsd8	T	C	3: 40,793,933 (GRCm39)	S25G	probably benign	Het
Mgat1	C	A	11: 49,152,694 (GRCm39)	S392R	probably benign	Het
Mtmr2	C	T	9: 13,713,301 (GRCm39)	Q493*	probably null	Het
Myocd	A	T	11: 65,078,410 (GRCm39)	S462T	probably damaging	Het
Ndnf	A	G	6: 65,681,164 (GRCm39)	Y481C	probably damaging	Het
Neb	G	T	2: 52,065,138 (GRCm39)	R6258S	probably damaging	Het
Nlrp4c	A	G	7: 6,063,624 (GRCm39)	M11V	probably benign	Het
Nup93	T	C	8: 95,035,604 (GRCm39)	S658P	possibly damaging	Het
Obox2	T	A	7: 15,130,771 (GRCm39)	M1K	probably null	Het
Or10ag55-ps1	T	A	2: 87,115,037 (GRCm39)	Y134*	probably null	Het
Or10g9	T	A	9: 39,912,367 (GRCm39)	H52L	possibly damaging	Het
Or1e20-ps1	G	T	11: 73,324,789 (GRCm39)	H88N	unknown	Het
Or51ag1	C	T	7: 103,155,727 (GRCm39)	R142H	probably benign	Het
Pcdh18	T	A	3: 49,710,884 (GRCm39)	I144F	possibly damaging	Het
Pcdhgb5	C	T	18: 37,864,982 (GRCm39)	T259I	probably damaging	Het
Pclo	A	G	5: 14,763,436 (GRCm39)	T685A		Het
Pecam1	T	C	11: 106,588,121 (GRCm39)	T139A	possibly damaging	Het
Pi15	T	A	1: 17,695,178 (GRCm39)	L265Q	probably damaging	Het
Pkd1l3	T	A	8: 110,394,173 (GRCm39)	F2053L	probably damaging	Het
Ppp1r36	A	G	12: 76,485,900 (GRCm39)	I353V	probably benign	Het
Ppp1r9a	A	G	6: 5,157,004 (GRCm39)	S961G	probably benign	Het
Rbm42	T	C	7: 30,345,395 (GRCm39)	R151G	possibly damaging	Het
Rnf224	T	C	2: 25,126,354 (GRCm39)		probably benign	Het
Scn2a	C	T	2: 65,518,974 (GRCm39)	T400I	probably damaging	Het
Slc17a5	T	A	9: 78,445,562 (GRCm39)	Q457L	possibly damaging	Het
Slc5a4a	A	T	10: 76,022,396 (GRCm39)	D577V	probably benign	Het
Stim2	A	G	5: 54,232,707 (GRCm39)	D123G	probably damaging	Het
Stxbp5l	A	G	16: 37,061,734 (GRCm39)	F359L	probably benign	Het
Syne1	T	C	10: 5,196,386 (GRCm39)	D3882G	possibly damaging	Het
Synj1	G	T	16: 90,790,912 (GRCm39)	S83Y	possibly damaging	Het
Tfip11	C	T	5: 112,479,029 (GRCm39)	T199I	probably damaging	Het
Thoc2l	T	A	5: 104,669,644 (GRCm39)	S1389T	probably benign	Het
Tiam1	T	A	16: 89,591,653 (GRCm39)	D1349V	probably damaging	Het
Tyw1	G	A	5: 130,298,065 (GRCm39)	R202Q	probably damaging	Het
Ucn3	T	A	13: 3,991,313 (GRCm39)	D113V	probably damaging	Het
Ugt3a1	A	G	15: 9,306,370 (GRCm39)	D173G	possibly damaging	Het
Uimc1	C	A	13: 55,188,427 (GRCm39)	R544L	possibly damaging	Het
Unc13c	T	C	9: 73,536,485 (GRCm39)	S1623G	probably damaging	Het
Vmn2r41	T	C	7: 8,141,391 (GRCm39)	N691S	probably benign	Het
Wdr24	T	A	17: 26,043,190 (GRCm39)	M4K	probably damaging	Het
Wdr48	T	C	9: 119,741,454 (GRCm39)	F332L	probably benign	Het
Xpo7	A	G	14: 70,903,466 (GRCm39)	V1080A	probably benign	Het
Zc3h3	A	T	15: 75,651,261 (GRCm39)	I653N	probably damaging	Het
Zfp1005	A	T	2: 150,109,517 (GRCm39)	H69L	possibly damaging	Het
Zfp362	T	A	4: 128,688,681 (GRCm39)	M1L	unknown	Het
Zfp503	A	G	14: 22,036,041 (GRCm39)	C292R	possibly damaging	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
R1756:Ighmbp2	UTSW	19	3,318,669 (GRCm39)	missense	probably damaging	0.99
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
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'- GTGTTAGCCATTCACCCAGC -3'
(R):5'- CGAACCTTGTGCGTCAACAC -3'

Sequencing Primer
(F):5'- GCCAACACTAGACTGGCTC -3'
(R):5'- AGGGATCCTACTGCAATCACTGG -3'

Posted On

2022-08-09