Mutagenetix > Incidental Mutation

Incidental Mutation 'R5489:Hnrnpab'

431994

Institutional Source

Beutler Lab

Gene Symbol

Hnrnpab

Ensembl Gene

ENSMUSG00000020358

Gene Name

heterogeneous nuclear ribonucleoprotein A/B

Synonyms

CBF-A, Hnrpab, Cgbfa

MMRRC Submission

043050-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.833) question?

Stock #

R5489 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

51490927-51497674 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 51495640 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 133 (L133S)

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 damaging
Transcript: ENSMUST00000074669
AA Change: L133S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000074238
Gene: ENSMUSG00000020358
AA Change: L133S

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 damaging
Transcript: ENSMUST00000101249
AA Change: L133S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000098807
Gene: ENSMUSG00000020358
AA Change: L133S

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 damaging
Transcript: ENSMUST00000109103
AA Change: L133S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000104731
Gene: ENSMUSG00000020358
AA Change: L133S

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

0.6467

Coding Region Coverage

1x: 98.4%
3x: 97.4%
10x: 95.4%
20x: 91.6%

Validation Efficiency

95% (57/60)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730455P16Rik	A	T	11: 80,268,778 (GRCm39)	M1K	probably null	Het
Abca14	T	A	7: 119,851,473 (GRCm39)	V817D	probably damaging	Het
Aqr	T	C	2: 113,963,554 (GRCm39)	N632S	probably damaging	Het
Bms1	T	C	6: 118,390,706 (GRCm39)	T208A	possibly damaging	Het
Brd8	A	T	18: 34,741,698 (GRCm39)		probably null	Het
Caln1	G	T	5: 130,443,673 (GRCm39)	R2L	possibly damaging	Het
Cdk17	A	G	10: 93,068,274 (GRCm39)	T344A	probably damaging	Het
Chd8	A	T	14: 52,450,505 (GRCm39)		probably benign	Het
Clec14a	A	G	12: 58,315,035 (GRCm39)	F196L	probably damaging	Het
Clec2f	T	C	6: 128,997,449 (GRCm39)		noncoding transcript	Het
Col4a1	A	T	8: 11,362,550 (GRCm39)		probably benign	Het
Col9a3	G	A	2: 180,258,318 (GRCm39)	R579H	probably damaging	Het
Cyb561	A	G	11: 105,826,349 (GRCm39)	V202A	probably benign	Het
Cyp2c69	T	G	19: 39,839,603 (GRCm39)	Q340P	probably null	Het
D630003M21Rik	T	A	2: 158,058,941 (GRCm39)	T320S	probably benign	Het
D630045J12Rik	A	T	6: 38,173,782 (GRCm39)	S129T	possibly damaging	Het
Ddx54	A	G	5: 120,762,786 (GRCm39)	T636A	probably benign	Het
Dnah8	T	G	17: 31,009,930 (GRCm39)	F3774V	probably damaging	Het
Ern1	A	G	11: 106,298,355 (GRCm39)	S674P	probably damaging	Het
Fam13a	A	T	6: 59,001,303 (GRCm39)	L8Q	probably null	Het
Fam83b	T	C	9: 76,452,881 (GRCm39)	N62S	probably benign	Het
Foxred1	A	T	9: 35,121,266 (GRCm39)	V94E	probably damaging	Het
Frmd8	T	A	19: 5,902,680 (GRCm39)	Q457L	probably damaging	Het
Gvin3	T	A	7: 106,200,797 (GRCm39)		noncoding transcript	Het
Heatr6	A	G	11: 83,665,258 (GRCm39)	E741G	probably damaging	Het
Itga2	A	T	13: 114,979,971 (GRCm39)	W1077R	probably damaging	Het
Kat6b	A	G	14: 21,719,332 (GRCm39)	D1228G	probably damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Kmt2a	A	T	9: 44,752,335 (GRCm39)		probably benign	Het
Leap2	T	G	11: 53,313,240 (GRCm39)	*77C	probably null	Het
Mmp20	A	G	9: 7,643,958 (GRCm39)		probably null	Het
Mrps9	T	G	1: 42,937,593 (GRCm39)		probably benign	Het
Muc2	T	C	7: 141,305,169 (GRCm39)	S158P	probably benign	Het
Mus81	T	C	19: 5,537,917 (GRCm39)		probably benign	Het
Nrip3	T	C	7: 109,361,045 (GRCm39)	T210A	probably damaging	Het
Or52s1b	T	C	7: 102,822,658 (GRCm39)	Y62C	probably damaging	Het
Padi2	T	C	4: 140,671,799 (GRCm39)	F509S	probably damaging	Het
Pcdha12	A	G	18: 37,155,260 (GRCm39)	T660A	probably benign	Het
Pdzd2	G	A	15: 12,382,762 (GRCm39)	P1197L	probably benign	Het
Rec8	A	T	14: 55,860,283 (GRCm39)	Q291L	probably benign	Het
Robo4	CGG	CG	9: 37,322,786 (GRCm39)		probably null	Het
Sart3	A	G	5: 113,909,441 (GRCm39)	W86R	probably damaging	Het
Slc17a4	A	G	13: 24,082,825 (GRCm39)		probably null	Het
Tdpoz1	T	A	3: 93,577,974 (GRCm39)	Y270F	possibly damaging	Het
Thap3	T	A	4: 152,070,109 (GRCm39)		probably benign	Het
Tmem45a	T	A	16: 56,646,074 (GRCm39)		probably null	Het
Trim43a	A	T	9: 88,464,229 (GRCm39)	I47F	probably damaging	Het
Vps13b	A	T	15: 35,770,688 (GRCm39)	I2044L	probably benign	Het
Zfp735	G	A	11: 73,601,419 (GRCm39)	W121*	probably null	Het
Zmym2	A	G	14: 57,193,712 (GRCm39)	K1176E	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
R3747:Hnrnpab	UTSW	11	51,493,473 (GRCm39)	missense	probably benign	0.04
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'- TACTGCATCCAGGCAAGACC -3'
(R):5'- AGATGTGCTCTTTGTCACTGC -3'

Sequencing Primer
(F):5'- GCATCCAGGCAAGACCAACAAAG -3'
(R):5'- CTTAAGTTGGGACTACTGTTCAGGAC -3'

Posted On

2016-10-05