Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02806:Hnrnpab'

360407

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL02806

Quality Score

Status

Chromosome

Chromosomal Location

51490927-51497674 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 51496305 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 126 (S126P)

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: S126P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000074238
Gene: ENSMUSG00000020358
AA Change: S126P

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: S126P

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000098807
Gene: ENSMUSG00000020358
AA Change: S126P

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: S126P

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000104731
Gene: ENSMUSG00000020358
AA Change: S126P

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

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot4	A	G	12: 84,088,737 (GRCm39)	D195G	probably damaging	Het
Acsm1	G	A	7: 119,235,861 (GRCm39)	D194N	probably benign	Het
Akr1b1	T	C	6: 34,281,254 (GRCm39)	Y310C	probably damaging	Het
Aldh6a1	T	C	12: 84,486,414 (GRCm39)	D168G	probably damaging	Het
Ankrd29	A	C	18: 12,408,795 (GRCm39)	S166A	probably benign	Het
Ap1m2	T	G	9: 21,216,979 (GRCm39)	D119A	probably damaging	Het
Atp1a3	T	C	7: 24,681,297 (GRCm39)	K776R	probably damaging	Het
Bltp1	A	G	3: 37,000,643 (GRCm39)	D1274G	possibly damaging	Het
Cacna2d3	A	C	14: 29,073,907 (GRCm39)		probably null	Het
Ccdc51	T	C	9: 108,921,316 (GRCm39)	M401T	probably benign	Het
Cchcr1	A	G	17: 35,836,153 (GRCm39)		probably benign	Het
Cspg4	T	C	9: 56,797,543 (GRCm39)	S1336P	possibly damaging	Het
Ddx60	T	A	8: 62,409,156 (GRCm39)	D397E	probably benign	Het
Duox2	T	C	2: 122,115,147 (GRCm39)	H1110R	probably damaging	Het
Ephb3	C	A	16: 21,041,031 (GRCm39)	D696E	probably benign	Het
Ermap	T	C	4: 119,046,113 (GRCm39)	K6E	possibly damaging	Het
Gm3095	A	G	14: 15,170,388 (GRCm39)	D79G	possibly damaging	Het
Hyou1	C	A	9: 44,300,180 (GRCm39)	S823*	probably null	Het
Klhl31	T	A	9: 77,563,056 (GRCm39)	V607E	probably damaging	Het
Klrc3	A	T	6: 129,616,065 (GRCm39)	C209S	possibly damaging	Het
Lhx4	G	A	1: 155,577,975 (GRCm39)	P389L	probably benign	Het
Lmntd2	T	C	7: 140,791,952 (GRCm39)	T264A	probably benign	Het
Mkx	T	C	18: 6,937,025 (GRCm39)	D302G	probably damaging	Het
Ms4a4d	T	C	19: 11,533,610 (GRCm39)	S164P	possibly damaging	Het
Myo1e	A	G	9: 70,269,552 (GRCm39)	E651G	probably benign	Het
Myo5b	G	A	18: 74,750,151 (GRCm39)		probably null	Het
Ncoa3	A	G	2: 165,894,352 (GRCm39)	I298V	probably benign	Het
Nek1	G	A	8: 61,497,120 (GRCm39)	M389I	probably benign	Het
Nid1	T	A	13: 13,642,897 (GRCm39)	D278E	probably benign	Het
Nkx2-9	C	T	12: 56,658,705 (GRCm39)	V170M	probably damaging	Het
Or51ag1	T	A	7: 103,155,210 (GRCm39)	K314N	probably benign	Het
Oxsr1	T	C	9: 119,070,260 (GRCm39)	D511G	possibly damaging	Het
Pramel14	T	A	4: 143,719,501 (GRCm39)		probably null	Het
Rbm44	T	C	1: 91,080,799 (GRCm39)	L329S	possibly damaging	Het
Setd7	A	T	3: 51,457,688 (GRCm39)	N46K	probably damaging	Het
Snx10	T	A	6: 51,565,329 (GRCm39)	F149I	probably damaging	Het
Sult2a3	T	A	7: 13,856,857 (GRCm39)	E21V	probably damaging	Het
Tas2r135	T	C	6: 42,383,382 (GRCm39)	F307S	probably benign	Het
Tmem131l	T	C	3: 83,836,123 (GRCm39)		probably benign	Het
Tnfsf18	T	G	1: 161,331,348 (GRCm39)	M166R	possibly damaging	Het
Toe1	C	T	4: 116,663,527 (GRCm39)	V88M	possibly damaging	Het
Ttk	T	A	9: 83,744,540 (GRCm39)	C577*	probably null	Het
Ush2a	T	A	1: 188,542,554 (GRCm39)	Y3373*	probably null	Het
Vwa8	A	G	14: 79,394,528 (GRCm39)	D1543G	probably benign	Het
Zfhx4	A	T	3: 5,455,468 (GRCm39)	H1154L	probably benign	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
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
R3747:Hnrnpab	UTSW	11	51,493,473 (GRCm39)	missense	probably benign	0.04
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

Posted On

2015-12-18