Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02949:Hnrnpa1'

364871

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hnrnpa1

Ensembl Gene

ENSMUSG00000046434

Gene Name

heterogeneous nuclear ribonucleoprotein A1

Synonyms

hnrnp-A, Hnrpa1, Hdp, D15Ertd119e

Accession Numbers

Essential gene?

Probably essential (E-score: 0.942) question?

Stock #

IGL02949

Quality Score

Status

Chromosome

Chromosomal Location

103148859-103155119 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103150538 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 163 (V163A)

Ref Sequence

ENSEMBL: ENSMUSP00000154865 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036004] [ENSMUST00000087351] [ENSMUST00000118152] [ENSMUST00000230171] [ENSMUST00000230489] [ENSMUST00000231141]

AlphaFold

P49312

Predicted Effect

probably damaging
Transcript: ENSMUST00000036004
AA Change: V163A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000042658
Gene: ENSMUSG00000046434
AA Change: V163A

Domain	Start	End	E-Value	Type
RRM	15	87	6.44e-27	SMART
RRM	106	178	6.86e-22	SMART
low complexity region	190	321	N/A	INTRINSIC
low complexity region	331	346	N/A	INTRINSIC
low complexity region	356	370	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000087351
AA Change: V163A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000084609
Gene: ENSMUSG00000046434
AA Change: V163A

Domain	Start	End	E-Value	Type
RRM	15	87	6.44e-27	SMART
RRM	106	178	6.86e-22	SMART
Pfam:HnRNPA1	257	292	4e-18	PFAM
low complexity region	303	317	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000118152

SMART Domains

Protein: ENSMUSP00000113157
Gene: ENSMUSG00000009575

Domain	Start	End	E-Value	Type
CHROMO	19	71	1.1e-18	SMART
ChSh	115	177	1.42e-30	SMART
CHROMO	120	172	3.6e-1	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000230171
AA Change: V163A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000230489
AA Change: V163A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000231141
AA Change: V163A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit prenatal and neonatal lethality, dilated cardiacmyopathy, and hypoplastic tongue and intercostal muscles. Mice heterozygous for a knock-out allele exhibit altered cardiac signaling, increased heart rate and increased systemic arterial systolic blood pressure. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	G	A	4: 144,344,490 (GRCm39)	V89I	probably damaging	Het
Abhd5	T	C	9: 122,206,980 (GRCm39)	F89L	possibly damaging	Het
Akr1c13	T	A	13: 4,248,593 (GRCm39)	V266E	probably damaging	Het
B4galt2	C	T	4: 117,738,602 (GRCm39)	A72T	probably benign	Het
Ccdc141	T	C	2: 76,857,938 (GRCm39)	Y1081C	probably damaging	Het
Coq8b	T	C	7: 26,956,038 (GRCm39)	V405A	possibly damaging	Het
Ddah2	A	G	17: 35,280,776 (GRCm39)	K251E	probably damaging	Het
Dnah5	T	C	15: 28,272,331 (GRCm39)	V1045A	probably benign	Het
Dpy19l1	A	T	9: 24,332,476 (GRCm39)	M662K	probably benign	Het
Dpys	A	G	15: 39,690,279 (GRCm39)	V358A	probably damaging	Het
H2-D1	A	G	17: 35,483,064 (GRCm39)	N198S	probably benign	Het
Hr	C	T	14: 70,797,225 (GRCm39)	R543C	possibly damaging	Het
Lct	C	T	1: 128,240,869 (GRCm39)	V245M	probably benign	Het
Lpl	G	A	8: 69,345,400 (GRCm39)	V135M	probably damaging	Het
Mblac1	T	A	5: 138,193,119 (GRCm39)	C154S	probably benign	Het
Mmp9	T	C	2: 164,793,039 (GRCm39)	F396S	probably damaging	Het
Mroh1	A	T	15: 76,293,168 (GRCm39)	H314L	probably damaging	Het
Msantd4	T	A	9: 4,385,196 (GRCm39)	L307Q	probably damaging	Het
Nol8	A	G	13: 49,815,878 (GRCm39)	D662G	probably benign	Het
Nynrin	G	A	14: 56,109,837 (GRCm39)	S1648N	probably damaging	Het
Or52a20	A	G	7: 103,366,427 (GRCm39)	I209V	probably benign	Het
Plcb2	C	T	2: 118,549,590 (GRCm39)		probably null	Het
Scyl2	T	A	10: 89,496,163 (GRCm39)	N229I	possibly damaging	Het
Spryd3	C	T	15: 102,026,544 (GRCm39)	E376K	probably benign	Het
Srr	T	G	11: 74,799,563 (GRCm39)	E304A	probably benign	Het
Srsf1	A	G	11: 87,940,352 (GRCm39)		probably benign	Het
Txnrd2	T	G	16: 18,296,456 (GRCm39)	S473A	probably benign	Het
Wdr18	T	A	10: 79,800,889 (GRCm39)	C151S	probably benign	Het
Zfp282	C	T	6: 47,874,848 (GRCm39)	T351I	probably damaging	Het

Other mutations in Hnrnpa1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00726:Hnrnpa1	APN	15	103,150,864 (GRCm39)	missense	probably benign	0.04
IGL00900:Hnrnpa1	APN	15	103,152,166 (GRCm39)	intron	probably benign
R1920:Hnrnpa1	UTSW	15	103,150,699 (GRCm39)	missense	possibly damaging	0.85
R5651:Hnrnpa1	UTSW	15	103,148,955 (GRCm39)	missense	possibly damaging	0.81
R7310:Hnrnpa1	UTSW	15	103,149,884 (GRCm39)	missense	probably damaging	0.99
R7811:Hnrnpa1	UTSW	15	103,149,900 (GRCm39)	missense	possibly damaging	0.94
R8356:Hnrnpa1	UTSW	15	103,150,529 (GRCm39)	missense	probably null	1.00

Posted On

2015-12-18