Mutagenetix > Incidental Mutation

Incidental Mutation 'R6901:Hnrnpab'

538545

Institutional Source

Beutler Lab

Gene Symbol

Hnrnpab

Ensembl Gene

ENSMUSG00000020358

Gene Name

heterogeneous nuclear ribonucleoprotein A/B

Synonyms

CBF-A, Hnrpab, Cgbfa

MMRRC Submission

044995-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.833) question?

Stock #

R6901 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

51490927-51497674 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 51492675 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000132190 (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

SMART Domains

Protein: ENSMUSP00000074238
Gene: ENSMUSG00000020358

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: N277S

SMART Domains

Protein: ENSMUSP00000098807
Gene: ENSMUSG00000020358
AA Change: N277S

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: N277S

SMART Domains

Protein: ENSMUSP00000104731
Gene: ENSMUSG00000020358
AA Change: N277S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.9%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd5	T	A	9: 122,197,220 (GRCm39)	S136T	probably benign	Het
Anxa10	T	C	8: 62,549,816 (GRCm39)	T10A	probably damaging	Het
Ap3b1	A	G	13: 94,554,650 (GRCm39)	E262G	probably benign	Het
Ap3b2	T	C	7: 81,134,660 (GRCm39)		probably null	Het
Arhgef40	A	G	14: 52,234,825 (GRCm39)	T1043A	probably damaging	Het
Arhgef5	T	A	6: 43,250,232 (GRCm39)	S328T	probably benign	Het
Arid4a	A	G	12: 71,113,911 (GRCm39)	K166R	probably damaging	Het
Cdh12	A	G	15: 21,583,872 (GRCm39)	I571V	probably benign	Het
Cdh4	G	A	2: 179,501,987 (GRCm39)	V316I	probably benign	Het
Cebpg	A	T	7: 34,750,202 (GRCm39)	H20Q	probably benign	Het
Ces4a	G	A	8: 105,873,330 (GRCm39)	V392I	probably benign	Het
CN725425	C	A	15: 91,124,966 (GRCm39)	P169T	possibly damaging	Het
Cyp2c54	A	G	19: 40,058,703 (GRCm39)	F243S	probably damaging	Het
Dkk2	T	A	3: 131,880,887 (GRCm39)		probably null	Het
Dync2h1	A	G	9: 7,131,855 (GRCm39)	Y1651H	probably damaging	Het
Dyrk1b	T	A	7: 27,884,542 (GRCm39)	L346Q	probably damaging	Het
Ephx4	T	C	5: 107,561,427 (GRCm39)	V85A	probably benign	Het
Etv6	A	G	6: 134,243,421 (GRCm39)	E392G	probably benign	Het
Fli1	T	A	9: 32,341,221 (GRCm39)	N202I	probably benign	Het
Gpc6	G	T	14: 118,188,629 (GRCm39)	R421L	possibly damaging	Het
Gse1	A	G	8: 120,956,561 (GRCm39)		probably benign	Het
Hdac1-ps	A	G	17: 78,800,089 (GRCm39)	E360G	probably benign	Het
Hyal4	A	G	6: 24,756,190 (GRCm39)	E136G	probably damaging	Het
Ift56	G	A	6: 38,378,079 (GRCm39)	R297H	possibly damaging	Het
Kcna3	C	T	3: 106,943,884 (GRCm39)	A49V	probably benign	Het
Krt42	C	T	11: 100,160,542 (GRCm39)	M52I	probably benign	Het
Lyrm4	A	T	13: 36,301,107 (GRCm39)	Y13N	probably damaging	Het
Map2	C	T	1: 66,460,932 (GRCm39)	S1576L	possibly damaging	Het
Map3k12	G	T	15: 102,409,065 (GRCm39)	P817T	possibly damaging	Het
Map3k12	G	T	15: 102,409,064 (GRCm39)	P817Q	possibly damaging	Het
Masp1	T	C	16: 23,332,584 (GRCm39)	K84E	probably damaging	Het
Mki67	A	T	7: 135,310,489 (GRCm39)		probably null	Het
Mrap	C	G	16: 90,546,193 (GRCm39)	S94C	probably damaging	Het
Mybpc2	C	A	7: 44,154,779 (GRCm39)	C986F	probably damaging	Het
Nbea	A	C	3: 55,926,836 (GRCm39)	M789R	probably damaging	Het
Or2ag1b	T	C	7: 106,288,396 (GRCm39)	I181V	probably benign	Het
Or6b2	G	T	1: 92,408,327 (GRCm39)	N5K	probably damaging	Het
Pde4a	A	G	9: 21,116,266 (GRCm39)	N475S	probably benign	Het
Pex7	C	T	10: 19,736,740 (GRCm39)	V297I	probably benign	Het
Pkd1l3	A	T	8: 110,341,246 (GRCm39)	H33L	unknown	Het
Prl8a6	A	T	13: 27,621,030 (GRCm39)	Y67N	possibly damaging	Het
Rcor1	A	T	12: 111,075,322 (GRCm39)	E383V	probably damaging	Het
Slc22a27	A	T	19: 7,903,944 (GRCm39)	S64R	probably damaging	Het
Snx7	G	A	3: 117,623,285 (GRCm39)	Q292*	probably null	Het
Tgm3	C	T	2: 129,883,890 (GRCm39)	T516M	possibly damaging	Het
Trim9	T	C	12: 70,393,413 (GRCm39)	E177G	probably damaging	Het
Ttc28	C	A	5: 111,424,891 (GRCm39)	T1541N	possibly damaging	Het
Ttc8	T	A	12: 98,927,735 (GRCm39)	L202H	probably damaging	Het
Ttll13	T	C	7: 79,899,930 (GRCm39)	Y90H	probably damaging	Het
Uba1y	T	G	Y: 825,496 (GRCm39)	I286S	probably benign	Het
Ubxn11	G	A	4: 133,853,575 (GRCm39)	A125T	probably damaging	Het
Vmn1r48	A	G	6: 90,013,550 (GRCm39)	Y92H	possibly damaging	Het
Vmn1r74	T	C	7: 11,581,368 (GRCm39)	F223L	probably benign	Het
Vwa5b1	G	A	4: 138,313,880 (GRCm39)	T696I	probably benign	Het
Zfp266	G	T	9: 20,410,895 (GRCm39)	Y427*	probably null	Het
Zfp362	C	T	4: 128,679,808 (GRCm39)	C273Y	probably damaging	Het
Zfp385c	T	C	11: 100,523,585 (GRCm39)	N123S	probably benign	Het
Zfp936	T	A	7: 42,839,467 (GRCm39)	H311Q	probably 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
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
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'- TCATTCAGTAGCTCCAGTGC -3'
(R):5'- ACCAGAACAGTAGCCTCTTGG -3'

Sequencing Primer
(F):5'- AGGCCTGTCTGACTCCAAAG -3'
(R):5'- GGCTTTTGAGTTGCCATAGTAATAAC -3'

Posted On

2018-11-06