Mutagenetix > Incidental Mutation

Incidental Mutation 'R7567:Ighmbp2'

585561

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

045629-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7567 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

3309076-3333011 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 3322981 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 322 (I322V)

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 benign
Transcript: ENSMUST00000025751
AA Change: I322V

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000025751
Gene: ENSMUSG00000024831
AA Change: I322V

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: I322V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000113438
Gene: ENSMUSG00000024831
AA Change: I322V

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	A	T	17: 9,226,838 (GRCm39)	Q464H	probably damaging	Het
Abcc5	A	T	16: 20,224,260 (GRCm39)	S108T	probably damaging	Het
Acss3	T	C	10: 106,959,174 (GRCm39)	S91G	probably benign	Het
Adgrf4	T	A	17: 42,978,333 (GRCm39)	I337L	probably benign	Het
Adgrv1	A	G	13: 81,581,648 (GRCm39)	S4799P	probably benign	Het
Adgrv1	T	C	13: 81,727,596 (GRCm39)	D348G	probably damaging	Het
Afdn	A	G	17: 14,109,070 (GRCm39)	D1546G	probably benign	Het
Agr2	A	T	12: 36,045,946 (GRCm39)	R64S	probably benign	Het
Ankrd13a	T	A	5: 114,927,545 (GRCm39)		probably null	Het
Apon	T	A	10: 128,090,922 (GRCm39)	M200K	possibly damaging	Het
Art4	T	C	6: 136,831,428 (GRCm39)	S238G	possibly damaging	Het
Atp2a2	A	T	5: 122,629,847 (GRCm39)	V74D	probably benign	Het
Atrnl1	T	C	19: 57,687,955 (GRCm39)	S807P	probably damaging	Het
C2cd3	T	C	7: 100,080,022 (GRCm39)	V936A		Het
Car15	T	A	16: 17,654,652 (GRCm39)	H122L	probably damaging	Het
Cav3	A	T	6: 112,449,428 (GRCm39)	R149W	probably benign	Het
Ccdc8	A	T	7: 16,728,687 (GRCm39)	I59F	probably damaging	Het
Ccng2	G	A	5: 93,418,731 (GRCm39)	V119I	probably benign	Het
Ceacam2	A	G	7: 25,227,333 (GRCm39)	I178T	probably benign	Het
Ces2a	A	G	8: 105,467,930 (GRCm39)	D520G	probably benign	Het
Cln8	T	C	8: 14,945,057 (GRCm39)	S124P	probably benign	Het
Coro2a	T	A	4: 46,546,674 (GRCm39)	D227V	probably damaging	Het
Cpa4	A	C	6: 30,573,889 (GRCm39)	R32S	probably benign	Het
Creb3l4	G	T	3: 90,149,729 (GRCm39)	D45E	probably benign	Het
Crybb2	C	T	5: 113,213,759 (GRCm39)		probably null	Het
Cul7	T	A	17: 46,965,521 (GRCm39)	H566Q	probably benign	Het
Cyp2b10	A	G	7: 25,614,204 (GRCm39)	Y226C	probably damaging	Het
Dennd2a	A	T	6: 39,499,743 (GRCm39)	V274D	probably benign	Het
Dmbt1	G	A	7: 130,663,093 (GRCm39)		probably null	Het
Drc7	T	C	8: 95,794,684 (GRCm39)	I363T	probably benign	Het
Drd3	G	A	16: 43,643,047 (GRCm39)	V396I	probably benign	Het
Dync2i1	A	T	12: 116,218,130 (GRCm39)		probably null	Het
Eif2ak4	A	G	2: 118,280,795 (GRCm39)	N1054S	probably benign	Het
Epc1	A	C	18: 6,450,084 (GRCm39)	V458G	probably damaging	Het
Exoc1	T	A	5: 76,685,562 (GRCm39)	D91E	probably damaging	Het
Fat4	T	A	3: 38,943,485 (GRCm39)	F793I	probably damaging	Het
Fhod1	T	C	8: 106,074,469 (GRCm39)	E6G	unknown	Het
Galnt16	G	A	12: 80,628,084 (GRCm39)		probably null	Het
Ganc	A	T	2: 120,286,582 (GRCm39)	T804S	probably benign	Het
Gpam	A	T	19: 55,070,062 (GRCm39)	V398E	possibly damaging	Het
Gpr68	A	G	12: 100,844,623 (GRCm39)	V307A	probably benign	Het
Grm7	C	T	6: 111,335,722 (GRCm39)	S711L	probably damaging	Het
Hemgn	T	A	4: 46,397,034 (GRCm39)	R67S	probably damaging	Het
Hmg20b	T	C	10: 81,182,493 (GRCm39)	D281G	possibly damaging	Het
Ifi211	A	C	1: 173,729,401 (GRCm39)	F277V	probably damaging	Het
Iqce	A	T	5: 140,671,830 (GRCm39)	L265H	probably damaging	Het
Itgal	G	T	7: 126,898,960 (GRCm39)	A101S	probably benign	Het
Kif5a	C	T	10: 127,073,248 (GRCm39)	M647I	probably benign	Het
Kirrel1	G	T	3: 87,002,988 (GRCm39)	T135K	probably damaging	Het
Klf16	T	C	10: 80,412,622 (GRCm39)	Y138C	probably benign	Het
Klhl7	A	G	5: 24,331,844 (GRCm39)	T49A	probably benign	Het
Mr1	T	C	1: 155,022,474 (GRCm39)		probably benign	Het
Mrc1	A	T	2: 14,330,104 (GRCm39)	I1238F	probably damaging	Het
Ncoa5	C	T	2: 164,846,171 (GRCm39)	M225I	possibly damaging	Het
Nf1	A	T	11: 79,438,052 (GRCm39)	T121S	probably damaging	Het
Ngfr	T	C	11: 95,465,147 (GRCm39)	T234A	probably benign	Het
Ninj1	T	G	13: 49,347,356 (GRCm39)	F74V	probably damaging	Het
Npffr1	T	C	10: 61,462,088 (GRCm39)	V408A	probably benign	Het
Nsd2	T	C	5: 34,003,570 (GRCm39)	V240A	probably damaging	Het
Obi1	T	C	14: 104,716,814 (GRCm39)	T520A	probably damaging	Het
Or12d13	T	A	17: 37,648,062 (GRCm39)	E20D	probably benign	Het
Or2z2	A	G	11: 58,345,992 (GRCm39)	M261T	probably damaging	Het
Or7a35	T	A	10: 78,853,379 (GRCm39)	F74L	probably benign	Het
Or8b44	G	A	9: 38,410,369 (GRCm39)	V135I	probably benign	Het
Or8g34	T	C	9: 39,373,173 (GRCm39)	S146P	possibly damaging	Het
Ovol1	T	C	19: 5,601,614 (GRCm39)	H136R	probably damaging	Het
Prag1	T	A	8: 36,569,760 (GRCm39)	D114E	possibly damaging	Het
Pramel17	T	C	4: 101,694,331 (GRCm39)	N184S	probably benign	Het
Prss3b	C	A	6: 41,010,127 (GRCm39)	R69L	probably benign	Het
Prss57	T	A	10: 79,623,234 (GRCm39)	H71L	probably benign	Het
Ptgs2	T	C	1: 149,978,448 (GRCm39)	F187L	probably damaging	Het
Ptprz1	A	T	6: 22,959,779 (GRCm39)	N92I	probably damaging	Het
Rab23	A	T	1: 33,773,812 (GRCm39)	T91S	possibly damaging	Het
Rag1	A	G	2: 101,474,006 (GRCm39)	S379P	probably damaging	Het
Ribc2	G	T	15: 85,027,448 (GRCm39)	D310Y	probably damaging	Het
Rims1	A	G	1: 22,507,291 (GRCm39)	Y620H	probably damaging	Het
Rock1	A	C	18: 10,090,820 (GRCm39)	V938G	probably benign	Het
Rsph10b	A	G	5: 143,886,244 (GRCm39)	N314S	possibly damaging	Het
Sertad1	A	G	7: 27,189,327 (GRCm39)	D216G	possibly damaging	Het
Shisal1	G	A	15: 84,290,914 (GRCm39)	T131M	probably benign	Het
Slco6d1	T	A	1: 98,425,252 (GRCm39)	V600D	probably damaging	Het
Snapc2	T	C	8: 4,305,314 (GRCm39)	I232T	probably damaging	Het
Snx13	A	G	12: 35,136,913 (GRCm39)	S125G	probably damaging	Het
Srcin1	C	T	11: 97,425,551 (GRCm39)	R502H	probably damaging	Het
Tesmin	A	G	19: 3,442,218 (GRCm39)	E167G	possibly damaging	Het
Tex10	T	C	4: 48,468,787 (GRCm39)	I129M	possibly damaging	Het
Tmem235	A	G	11: 117,754,967 (GRCm39)	S140G	probably benign	Het
Trim60	T	A	8: 65,454,177 (GRCm39)	D24V	probably damaging	Het
Ttc39c	A	G	18: 12,822,936 (GRCm39)	E148G	probably benign	Het
Vmn2r70	G	T	7: 85,214,243 (GRCm39)	T303K	probably benign	Het
Wdr48	A	T	9: 119,745,894 (GRCm39)	T426S	possibly damaging	Het
Xirp2	A	T	2: 67,346,326 (GRCm39)	T2856S	probably benign	Het
Zswim8	A	G	14: 20,770,001 (GRCm39)	N1356S	probably 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
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'- AGCCCTGTGTCTGTGAAAG -3'
(R):5'- TCCTTCGCAATGATTCTGCAG -3'

Sequencing Primer
(F):5'- GTAGTTAGAAGACTCCCTACAAAGTG -3'
(R):5'- CGCAATGATTCTGCAGTTTAGC -3'

Posted On

2019-10-17