Mutagenetix > Incidental Mutation

Incidental Mutation 'R0095:Hnrnpa3'

64024

Institutional Source

Beutler Lab

Gene Symbol

Hnrnpa3

Ensembl Gene

ENSMUSG00000059005

Gene Name

heterogeneous nuclear ribonucleoprotein A3

Synonyms

2410013L13Rik, 2610209F03Rik, Hnrpa3, 2610510D13Rik

MMRRC Submission

038381-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.827) question?

Stock #

R0095 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

75489605-75499751 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 75492040 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 52 (R52L)

Ref Sequence

ENSEMBL: ENSMUSP00000126069 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090792] [ENSMUST00000111961] [ENSMUST00000111962] [ENSMUST00000111964] [ENSMUST00000141974] [ENSMUST00000164947]

AlphaFold

Q8BG05

Predicted Effect

possibly damaging
Transcript: ENSMUST00000090792
AA Change: R74L

PolyPhen 2 Score 0.713 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000088298
Gene: ENSMUSG00000059005
AA Change: R74L

Domain	Start	End	E-Value	Type
low complexity region	5	22	N/A	INTRINSIC
RRM	36	108	4.06e-24	SMART
RRM	127	199	1.94e-21	SMART
low complexity region	211	338	N/A	INTRINSIC
low complexity region	349	378	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111961
AA Change: R74L

PolyPhen 2 Score 0.483 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000107592
Gene: ENSMUSG00000059005
AA Change: R74L

Domain	Start	End	E-Value	Type
low complexity region	5	22	N/A	INTRINSIC
RRM	36	108	4.06e-24	SMART
RRM	127	199	1.94e-21	SMART
Pfam:HnRNPA1	266	303	8.4e-18	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000111962
AA Change: R52L

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

SMART Domains

Protein: ENSMUSP00000107593
Gene: ENSMUSG00000059005
AA Change: R52L

Domain	Start	End	E-Value	Type
RRM	14	86	4.06e-24	SMART
RRM	105	177	1.94e-21	SMART
low complexity region	189	316	N/A	INTRINSIC
low complexity region	327	356	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111964
AA Change: R74L

PolyPhen 2 Score 0.713 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000107595
Gene: ENSMUSG00000059005
AA Change: R74L

Domain	Start	End	E-Value	Type
low complexity region	5	22	N/A	INTRINSIC
RRM	36	108	4.06e-24	SMART
RRM	127	199	1.94e-21	SMART
low complexity region	211	338	N/A	INTRINSIC
low complexity region	349	378	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132392

Predicted Effect

probably benign
Transcript: ENSMUST00000141974

SMART Domains

Protein: ENSMUSP00000116125
Gene: ENSMUSG00000059005

Domain	Start	End	E-Value	Type
PDB:2UP1\|A	1	25	7e-8	PDB
low complexity region	26	153	N/A	INTRINSIC
low complexity region	164	193	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000164947
AA Change: R52L

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

SMART Domains

Protein: ENSMUSP00000126069
Gene: ENSMUSG00000059005
AA Change: R52L

Domain	Start	End	E-Value	Type
RRM	14	86	4.06e-24	SMART
RRM	105	177	1.94e-21	SMART
low complexity region	189	316	N/A	INTRINSIC
low complexity region	327	356	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175501

Meta Mutation Damage Score

0.3504

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anxa8	G	A	14: 33,808,028 (GRCm39)	A6T	probably benign	Het
Bicc1	T	A	10: 70,796,988 (GRCm39)	I42F	probably damaging	Het
Cutc	T	C	19: 43,741,638 (GRCm39)	W13R	probably benign	Het
F5	A	T	1: 164,019,537 (GRCm39)	R671*	probably null	Het
Fer	A	T	17: 64,248,321 (GRCm39)	E361V	possibly damaging	Het
Igsf10	A	T	3: 59,238,617 (GRCm39)	Y521*	probably null	Het
Lratd2	T	C	15: 60,695,425 (GRCm39)	Y107C	probably damaging	Het
Mmp1a	G	A	9: 7,465,621 (GRCm39)	G186D	possibly damaging	Het
Naip1	T	C	13: 100,559,591 (GRCm39)	T1138A	probably benign	Het
Necab1	T	A	4: 14,960,027 (GRCm39)	N307Y	possibly damaging	Het
Or5p81	A	C	7: 108,267,252 (GRCm39)	I210L	probably benign	Het
Plekha5	T	C	6: 140,474,323 (GRCm39)	F84L	probably damaging	Het
Rpl6	T	G	5: 121,343,902 (GRCm39)	V115G	possibly damaging	Het
Sec16a	A	T	2: 26,315,772 (GRCm39)		probably null	Het
Tpsg1	T	C	17: 25,591,528 (GRCm39)	W43R	probably damaging	Het
Unc45a	T	C	7: 79,979,291 (GRCm39)	D567G	probably damaging	Het
Usp30	T	A	5: 114,243,901 (GRCm39)	F157I	probably damaging	Het
Zfp345	T	A	2: 150,314,220 (GRCm39)	H439L	probably damaging	Het

Other mutations in Hnrnpa3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0076:Hnrnpa3	UTSW	2	75,492,040 (GRCm39)	missense	probably damaging	1.00
R4583:Hnrnpa3	UTSW	2	75,493,950 (GRCm39)	missense	probably benign	0.23
R4762:Hnrnpa3	UTSW	2	75,492,351 (GRCm39)	missense	possibly damaging	0.95
R5499:Hnrnpa3	UTSW	2	75,495,584 (GRCm39)	missense	probably benign	0.23
R5802:Hnrnpa3	UTSW	2	75,495,400 (GRCm39)	missense	unknown
R6253:Hnrnpa3	UTSW	2	75,492,914 (GRCm39)	missense	possibly damaging	0.82
R8233:Hnrnpa3	UTSW	2	75,492,860 (GRCm39)	missense	probably benign	0.04
R8437:Hnrnpa3	UTSW	2	75,493,019 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CTCAGGGCCATGATCCAAAGGAAC -3'
(R):5'- GGCACCAGGCTTTACAGAATCCTAC -3'

Sequencing Primer
(F):5'- GGTCTGAGCTTTGAAACCAC -3'
(R):5'- AAACAGCTCTCTTCGGTTCCAC -3'

Posted On

2013-08-06