Mutagenetix > Incidental Mutation

Incidental Mutation 'R3747:Hnrnpab'

309885

Institutional Source

Beutler Lab

Gene Symbol

Hnrnpab

Ensembl Gene

ENSMUSG00000020358

Gene Name

heterogeneous nuclear ribonucleoprotein A/B

Synonyms

CBF-A, Hnrpab, Cgbfa

Accession Numbers

Essential gene?

Probably essential (E-score: 0.833) question?

Stock #

R3747 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

51490927-51497674 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 51493473 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 245 (Y245F)

Ref Sequence

ENSEMBL: ENSMUSP00000104731 (fasta)

Gene Model

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

AlphaFold

Q99020

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: Y245F

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000074238
Gene: ENSMUSG00000020358
AA Change: Y245F

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

probably benign
Transcript: ENSMUST00000101249
AA Change: Y245F

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000098807
Gene: ENSMUSG00000020358
AA Change: Y245F

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

probably benign
Transcript: ENSMUST00000109103
AA Change: Y245F

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000104731
Gene: ENSMUSG00000020358
AA Change: Y245F

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.6%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	C	A	5: 77,036,501 (GRCm39)	E347*	probably null	Het
Abhd18	A	G	3: 40,888,008 (GRCm39)	N284S	probably benign	Het
Adam12	T	C	7: 133,774,594 (GRCm39)	D5G	probably damaging	Het
Adam26b	A	C	8: 43,974,234 (GRCm39)	V256G	probably benign	Het
Aga	T	A	8: 53,970,856 (GRCm39)	I192N	probably benign	Het
Ago1	A	G	4: 126,354,837 (GRCm39)	I125T	probably benign	Het
Alk	A	G	17: 72,218,560 (GRCm39)	S762P	probably damaging	Het
Bckdk	C	A	7: 127,504,590 (GRCm39)	R105S	probably damaging	Het
Cby3	T	C	11: 50,250,501 (GRCm39)	*236R	probably null	Het
Cfhr1	C	A	1: 139,485,372 (GRCm39)		probably null	Het
Clcn1	T	A	6: 42,276,849 (GRCm39)	Y393N	probably damaging	Het
Cx3cr1	T	C	9: 119,881,132 (GRCm39)	H90R	probably damaging	Het
Cyp3a16	T	A	5: 145,378,881 (GRCm39)	K380M	probably damaging	Het
Cyp4v3	G	A	8: 45,768,745 (GRCm39)	R272*	probably null	Het
Dazap1	C	T	10: 80,123,498 (GRCm39)	R391C	possibly damaging	Het
Dgkh	T	A	14: 78,821,885 (GRCm39)	E876V	probably damaging	Het
Dnah8	A	T	17: 31,003,148 (GRCm39)	K3616*	probably null	Het
E2f1	C	G	2: 154,405,942 (GRCm39)	G144R	probably damaging	Het
Fam221a	A	G	6: 49,349,630 (GRCm39)	D2G	probably damaging	Het
Fam43a	C	T	16: 30,420,664 (GRCm39)	T416I	probably benign	Het
Fam90a1a	C	A	8: 22,453,221 (GRCm39)	S192*	probably null	Het
Foxd1	G	C	13: 98,492,424 (GRCm39)	A433P	unknown	Het
Garin4	T	G	1: 190,896,207 (GRCm39)	Q145H	probably damaging	Het
Gm10152	G	A	7: 144,316,937 (GRCm39)		probably null	Het
Hipk3	T	A	2: 104,271,628 (GRCm39)	R435*	probably null	Het
Islr2	A	T	9: 58,106,925 (GRCm39)	S112T	probably benign	Het
Itgb7	A	T	15: 102,131,212 (GRCm39)	V280D	probably damaging	Het
Kndc1	G	A	7: 139,507,817 (GRCm39)		probably null	Het
Lrba	T	G	3: 86,283,260 (GRCm39)	L1858R	probably damaging	Het
Mroh2b	G	A	15: 4,981,728 (GRCm39)	W1513*	probably null	Het
Nbeal1	A	G	1: 60,234,182 (GRCm39)	D51G	probably damaging	Het
Ncoa6	G	A	2: 155,253,561 (GRCm39)	P939L	probably benign	Het
Ndst3	A	G	3: 123,465,201 (GRCm39)	I257T	probably benign	Het
Nolc1	CAG	CAGAAG	19: 46,069,795 (GRCm39)		probably benign	Het
Nuf2	T	A	1: 169,352,945 (GRCm39)	N20I	probably damaging	Het
Osbpl7	T	C	11: 96,946,879 (GRCm39)	V223A	probably damaging	Het
Pcm1	T	C	8: 41,785,041 (GRCm39)	I2064T	probably benign	Het
Pkd1	A	G	17: 24,810,435 (GRCm39)	R90G	possibly damaging	Het
Pkdrej	T	A	15: 85,705,278 (GRCm39)	K219N	probably damaging	Het
Ppil4	A	T	10: 7,690,457 (GRCm39)	Q370L	probably benign	Het
Pramel18	T	A	4: 101,767,073 (GRCm39)	D107E	possibly damaging	Het
Primpol	A	T	8: 47,052,848 (GRCm39)	D154E	probably benign	Het
Rb1cc1	T	G	1: 6,318,966 (GRCm39)	V778G	possibly damaging	Het
Sgms1	A	T	19: 32,136,994 (GRCm39)	S191T	possibly damaging	Het
Sned1	T	A	1: 93,189,473 (GRCm39)	F303Y	probably damaging	Het
Sp9	T	A	2: 73,104,652 (GRCm39)	M402K	probably damaging	Het
Spon1	T	C	7: 113,365,621 (GRCm39)	L19P	probably damaging	Het
Spon1	T	A	7: 113,616,024 (GRCm39)	V297E	possibly damaging	Het
Tlr5	T	C	1: 182,802,004 (GRCm39)	I436T	probably benign	Het
Tmem63a	G	A	1: 180,790,679 (GRCm39)	D446N	possibly damaging	Het
Tpcn2	T	C	7: 144,809,260 (GRCm39)	H682R	probably damaging	Het
Ugt1a6a	T	C	1: 88,066,871 (GRCm39)	Y226H	probably damaging	Het
Upf1	G	T	8: 70,786,000 (GRCm39)	N975K	possibly damaging	Het
Ush2a	G	A	1: 188,542,489 (GRCm39)	G3352S	probably benign	Het
Vmn1r39	T	C	6: 66,781,854 (GRCm39)	N155D	probably benign	Het
Vwa5b2	A	G	16: 20,417,076 (GRCm39)		probably benign	Het
Yipf4	G	A	17: 74,803,667 (GRCm39)		probably null	Het
Zdhhc17	T	C	10: 110,780,281 (GRCm39)	I624M	probably benign	Het
Zfhx4	G	A	3: 5,308,225 (GRCm39)	E484K	possibly damaging	Het
Zswim4	G	A	8: 84,938,676 (GRCm39)	P1069S	possibly damaging	Het

Other mutations in Hnrnpab

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02040:Hnrnpab	APN	11	51,492,622 (GRCm39)	intron	probably benign
IGL02806:Hnrnpab	APN	11	51,496,305 (GRCm39)	missense	probably benign	0.03
F5770:Hnrnpab	UTSW	11	51,493,451 (GRCm39)	missense	probably benign	0.39
R0172:Hnrnpab	UTSW	11	51,493,494 (GRCm39)	missense	probably damaging	0.99
R3619:Hnrnpab	UTSW	11	51,493,438 (GRCm39)	missense	possibly damaging	0.73
R5489:Hnrnpab	UTSW	11	51,495,640 (GRCm39)	missense	probably damaging	1.00
R5854:Hnrnpab	UTSW	11	51,495,508 (GRCm39)	missense	probably damaging	1.00
R5910:Hnrnpab	UTSW	11	51,492,281 (GRCm39)	missense	probably benign
R6901:Hnrnpab	UTSW	11	51,492,675 (GRCm39)	intron	probably benign
R7652:Hnrnpab	UTSW	11	51,496,400 (GRCm39)	missense	probably damaging	0.99
R7766:Hnrnpab	UTSW	11	51,492,293 (GRCm39)	missense	unknown
R9171:Hnrnpab	UTSW	11	51,492,710 (GRCm39)	missense	unknown
R9245:Hnrnpab	UTSW	11	51,497,240 (GRCm39)	missense	probably benign	0.00
V7581:Hnrnpab	UTSW	11	51,493,451 (GRCm39)	missense	probably benign	0.39
V7583:Hnrnpab	UTSW	11	51,493,451 (GRCm39)	missense	probably benign	0.39
X0025:Hnrnpab	UTSW	11	51,495,556 (GRCm39)	missense	probably damaging	1.00
X0064:Hnrnpab	UTSW	11	51,492,628 (GRCm39)	intron	probably benign
Z1088:Hnrnpab	UTSW	11	51,492,573 (GRCm39)	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- TGAGCCATAGCAGCACAAGC -3'
(R):5'- AAGGTGGGTGTCAATCTTGC -3'

Sequencing Primer
(F):5'- GCCATAGCAGCACAAGCATACAG -3'
(R):5'- CAATCTTGCTGTCTTGTTAGGAG -3'

Posted On

2015-04-17