Mutagenetix > Incidental Mutations

Incidental Mutation 'V7583:Hnrnpab'

152662

Institutional Source

Beutler Lab

Gene Symbol

Hnrnpab

Ensembl Gene

ENSMUSG00000020358

Gene Name

heterogeneous nuclear ribonucleoprotein A/B

Synonyms

CBF-A, Hnrpab, Cgbfa

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.798) question?

Stock #

V7583 () of strain stinger

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

51600100-51606847 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 51602624 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 252 (N252K)

Ref Sequence

ENSEMBL: ENSMUSP00000074238 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020625] [ENSMUST00000074669] [ENSMUST00000101249] [ENSMUST00000101250] [ENSMUST00000109103] [ENSMUST00000167797]

Predicted Effect

probably benign
Transcript: ENSMUST00000020625

SMART Domains

Protein: ENSMUSP00000020625
Gene: ENSMUSG00000020359

Domain	Start	End	E-Value	Type
low complexity region	14	25	N/A	INTRINSIC
Pfam:Aminotran_3	27	433	2.1e-81	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000074669
AA Change: N252K

PolyPhen 2 Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000074238
Gene: ENSMUSG00000020358
AA Change: N252K

Domain	Start	End	E-Value	Type
low complexity region	21	55	N/A	INTRINSIC
RRM	76	148	3.59e-25	SMART
RRM	160	232	5.79e-20	SMART
low complexity region	240	270	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000101249
AA Change: N252K

SMART Domains

Protein: ENSMUSP00000098807
Gene: ENSMUSG00000020358
AA Change: N252K

Domain	Start	End	E-Value	Type
low complexity region	21	55	N/A	INTRINSIC
RRM	76	148	3.59e-25	SMART
RRM	160	232	5.79e-20	SMART
low complexity region	240	310	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000101250

SMART Domains

Protein: ENSMUSP00000098808
Gene: ENSMUSG00000020359

Domain	Start	End	E-Value	Type
low complexity region	14	25	N/A	INTRINSIC
Pfam:Aminotran_3	33	212	8.2e-29	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000109103
AA Change: N252K

SMART Domains

Protein: ENSMUSP00000104731
Gene: ENSMUSG00000020358
AA Change: N252K

Domain	Start	End	E-Value	Type
Pfam:CBFNT	1	75	5.7e-23	PFAM
RRM	76	148	3.59e-25	SMART
RRM	160	232	5.79e-20	SMART
low complexity region	240	313	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000167797

SMART Domains

Protein: ENSMUSP00000132190
Gene: ENSMUSG00000020359

Domain	Start	End	E-Value	Type
low complexity region	14	25	N/A	INTRINSIC
Pfam:Aminotran_3	33	373	1.5e-75	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169995

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a protein with consensus RNA binding domains present in a number of other RNA binding proteins and a glycine-rich C-terminus. This gene overlaps in a tail-to-tail orientation the gene encoding alanine-glyoxylate aminotransferase 2-like 2. Some of the exons of this gene are interspersed with exons of alanine-glyoxylate aminotransferase 2-like 2. Two alternatively spliced transcript variants that encode distinct proteins have been described for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal neuron differentiation, increased susceptibility to neuronal excitotoxicity and long neurites. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530002B09Rik	A	T	4: 122,701,257	H102L	possibly damaging	Het
Atp6v1h	A	G	1: 5,124,443	T282A	possibly damaging	Het
Cdc42bpb	C	T	12: 111,296,391	G1501S	probably benign	Het
D630003M21Rik	T	C	2: 158,201,011	T870A	probably benign	Het
Dcaf4	C	A	12: 83,537,701		probably null	Het
Dnajc22	T	A	15: 99,101,482	Y183N	probably damaging	Het
Dpyd	C	T	3: 118,897,126	Q295*	probably null	Het
Erv3	T	C	2: 131,855,926	H171R	possibly damaging	Het
Fam221b	T	C	4: 43,665,865	T249A	probably benign	Het
Fcgr1	T	C	3: 96,284,276	*405W	probably null	Het
Gm10770	T	A	2: 150,179,484	K38*	probably null	Het
Golga4	A	G	9: 118,556,075	E727G	possibly damaging	Het
Ing1	T	C	8: 11,561,934	V124A	probably damaging	Het
Izumo4	A	T	10: 80,703,891	T155S	probably benign	Het
Kcnb2	A	G	1: 15,710,091	I396V	probably benign	Het
Lrp4	C	T	2: 91,488,518	S900L	possibly damaging	Het
Mbd5	A	G	2: 49,316,410	D1713G	probably damaging	Het
Muc6	T	G	7: 141,647,613	E808A	probably benign	Het
Mylk	G	T	16: 34,995,204		probably null	Het
Nbeal2	A	G	9: 110,637,937	V670A	possibly damaging	Het
Nphp3	T	C	9: 104,035,894		probably null	Het
Numbl	T	C	7: 27,279,602	S379P	probably benign	Het
Otop3	T	A	11: 115,344,838	L432Q	probably damaging	Het
Pelp1	T	A	11: 70,398,150	T257S	probably damaging	Het
Pigx	T	C	16: 32,087,422	D129G	probably damaging	Het
Pik3cd	A	C	4: 149,657,319	L390R	probably damaging	Het
Plekhb1	T	C	7: 100,654,618	T112A	probably benign	Het
Recql4	T	C	15: 76,706,169	D705G	possibly damaging	Het
Ror1	A	G	4: 100,440,933	Q501R	probably damaging	Het
Sirpb1b	A	G	3: 15,503,183	V366A	probably benign	Het
Slc30a4	T	A	2: 122,689,538	M136L	probably benign	Het
Spaca1	T	C	4: 34,039,311	E192G	probably damaging	Het
Spata31	C	A	13: 64,921,648	P537T	probably benign	Het
Tnrc6c	G	A	11: 117,723,326	R770H	probably damaging	Het
Toe1	A	T	4: 116,806,111	N56K	probably damaging	Het
Tprkb	A	G	6: 85,928,782	K150E	probably damaging	Het
Trps1	T	C	15: 50,831,577	K150E	probably damaging	Het
Tspyl3	A	G	2: 153,225,060	V86A	probably benign	Het
Vps18	A	G	2: 119,297,228	Y844C	probably benign	Het
Wdr60	A	C	12: 116,211,840	S906A	possibly damaging	Het
Wdr72	T	A	9: 74,157,270	I528N	probably damaging	Het
Zfp292	C	T	4: 34,806,783	C2087Y	possibly damaging	Het
Zfp933	G	A	4: 147,826,470	A223V	probably damaging	Het
Zmynd8	G	A	2: 165,812,394	R724*	probably null	Het

Other mutations in Hnrnpab

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02040:Hnrnpab	APN	11	51601795	intron	probably benign
IGL02806:Hnrnpab	APN	11	51605478	missense	probably benign	0.03
F5770:Hnrnpab	UTSW	11	51602624	missense	probably benign	0.39
R0172:Hnrnpab	UTSW	11	51602667	missense	probably damaging	0.99
R3619:Hnrnpab	UTSW	11	51602611	missense	possibly damaging	0.73
R3747:Hnrnpab	UTSW	11	51602646	missense	probably benign	0.04
R5489:Hnrnpab	UTSW	11	51604813	missense	probably damaging	1.00
R5854:Hnrnpab	UTSW	11	51604681	missense	probably damaging	1.00
R5910:Hnrnpab	UTSW	11	51601454	missense	probably benign
R6901:Hnrnpab	UTSW	11	51601848	intron	probably benign
R7652:Hnrnpab	UTSW	11	51605573	missense	probably damaging	0.99
R7766:Hnrnpab	UTSW	11	51601466	missense	unknown
V7581:Hnrnpab	UTSW	11	51602624	missense	probably benign	0.39
X0025:Hnrnpab	UTSW	11	51604729	missense	probably damaging	1.00
X0064:Hnrnpab	UTSW	11	51601801	intron	probably benign
Z1088:Hnrnpab	UTSW	11	51601746	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- CCATGAAGCCATGAGCCATAGCAG -3'
(R):5'- ATCCAGTGAAGCCTCACACACTTG -3'

Sequencing Primer
(F):5'- TGAGCCATAGCAGCACAAG -3'
(R):5'- GAAGCCTCACACACTTGTTTTATCTG -3'

Posted On

2014-01-29