Mutagenetix > Incidental Mutation

Incidental Mutation 'R5499:Hnrnpa3'

430501

Institutional Source

Beutler Lab

Gene Symbol

Hnrnpa3

Ensembl Gene

ENSMUSG00000059005

Gene Name

heterogeneous nuclear ribonucleoprotein A3

Synonyms

2410013L13Rik, 2610209F03Rik, Hnrpa3, 2610510D13Rik

MMRRC Submission

043060-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.827) question?

Stock #

R5499 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

75489605-75499751 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 75495584 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 365 (Y365C)

Ref Sequence

ENSEMBL: ENSMUSP00000107595 (fasta)

Gene Model

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

AlphaFold

Q8BG05

Predicted Effect

probably benign
Transcript: ENSMUST00000090792
AA Change: Y365C

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000088298
Gene: ENSMUSG00000059005
AA Change: Y365C

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

unknown
Transcript: ENSMUST00000111961
AA Change: Y304C

SMART Domains

Protein: ENSMUSP00000107592
Gene: ENSMUSG00000059005
AA Change: Y304C

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

unknown
Transcript: ENSMUST00000111962
AA Change: Y343C

SMART Domains

Protein: ENSMUSP00000107593
Gene: ENSMUSG00000059005
AA Change: Y343C

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

probably benign
Transcript: ENSMUST00000111964
AA Change: Y365C

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000107595
Gene: ENSMUSG00000059005
AA Change: Y365C

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

unknown
Transcript: ENSMUST00000141974
AA Change: Y180C

SMART Domains

Protein: ENSMUSP00000116125
Gene: ENSMUSG00000059005
AA Change: Y180C

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

unknown
Transcript: ENSMUST00000164947
AA Change: Y343C

SMART Domains

Protein: ENSMUSP00000126069
Gene: ENSMUSG00000059005
AA Change: Y343C

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

Coding Region Coverage

1x: 98.3%
3x: 97.3%
10x: 95.3%
20x: 91.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	G	A	2: 68,432,137 (GRCm39)	E74K	unknown	Het
Adam10	A	T	9: 70,647,399 (GRCm39)	H176L	probably benign	Het
Anapc5	C	T	5: 122,926,476 (GRCm39)	E621K	probably damaging	Het
Asf1a	T	A	10: 53,482,266 (GRCm39)	L26Q	probably damaging	Het
Atxn1l	A	G	8: 110,458,264 (GRCm39)	L666P	probably damaging	Het
Cep290	G	A	10: 100,373,515 (GRCm39)	R1265H	probably damaging	Het
Chd8	A	G	14: 52,441,888 (GRCm39)		probably null	Het
Ctse	T	A	1: 131,600,251 (GRCm39)	Y333*	probably null	Het
Diras2	C	T	13: 52,661,786 (GRCm39)	V174M	probably benign	Het
Dnah11	A	T	12: 118,070,209 (GRCm39)	V1532D	possibly damaging	Het
Dnai7	A	T	6: 145,123,157 (GRCm39)	W570R	probably damaging	Het
Ercc6	G	A	14: 32,238,916 (GRCm39)	M1I	probably null	Het
Fbxl4	A	G	4: 22,386,017 (GRCm39)	E208G	probably damaging	Het
Fstl4	G	T	11: 52,959,374 (GRCm39)	M138I	probably benign	Het
Galnt17	T	A	5: 130,929,466 (GRCm39)	Q447L	probably benign	Het
H2-Q7	T	A	17: 35,658,916 (GRCm39)	C122*	probably null	Het
Herpud1	C	T	8: 95,116,041 (GRCm39)	L69F	probably damaging	Het
Ino80	A	T	2: 119,272,128 (GRCm39)	V553E	probably damaging	Het
Kif13a	A	G	13: 46,986,212 (GRCm39)	Y38H	probably damaging	Het
Klk1b21	A	G	7: 43,755,100 (GRCm39)	I132V	probably benign	Het
Lamb2	T	C	9: 108,365,001 (GRCm39)	S1252P	possibly damaging	Het
Lct	T	A	1: 128,214,414 (GRCm39)	D1786V	probably damaging	Het
Lrig2	T	A	3: 104,368,873 (GRCm39)	M572L	probably benign	Het
Lrp1	C	T	10: 127,408,813 (GRCm39)	V1710I	possibly damaging	Het
Mmp12	C	A	9: 7,353,000 (GRCm39)	S250R	probably benign	Het
Mycbp2	T	C	14: 103,479,615 (GRCm39)	D1226G	probably damaging	Het
Myocd	A	G	11: 65,069,575 (GRCm39)	I755T	possibly damaging	Het
Nup210l	T	C	3: 90,081,677 (GRCm39)	L1003P	probably damaging	Het
Or11h23	G	A	14: 50,948,324 (GRCm39)	C179Y	probably damaging	Het
Or1af1	T	C	2: 37,109,777 (GRCm39)	I92T	possibly damaging	Het
Or52e8b	A	T	7: 104,674,184 (GRCm39)	M1K	probably null	Het
Palmd	T	A	3: 116,717,481 (GRCm39)	M339L	probably benign	Het
Phtf1	T	A	3: 103,898,491 (GRCm39)	N307K	probably benign	Het
Ppp2r3c	T	C	12: 55,335,411 (GRCm39)	I243V	probably benign	Het
Ptafr	A	G	4: 132,306,646 (GRCm39)	E12G	probably damaging	Het
Rpgrip1	T	A	14: 52,378,042 (GRCm39)	N463K	probably benign	Het
Sgcb	T	C	5: 73,801,748 (GRCm39)	N39S	probably damaging	Het
Skint5	A	G	4: 113,799,700 (GRCm39)		probably null	Het
Slc45a2	C	T	15: 11,027,871 (GRCm39)	T480I	probably damaging	Het
Slfn8	C	A	11: 82,895,042 (GRCm39)	S588I	probably damaging	Het
Tcea2	A	G	2: 181,322,227 (GRCm39)	I10V	probably damaging	Het
Tlr3	C	T	8: 45,851,851 (GRCm39)	D349N	possibly damaging	Het
Top2a	C	T	11: 98,913,202 (GRCm39)	V77I	probably benign	Het
Vps51	T	G	19: 6,121,063 (GRCm39)	E283D	probably benign	Het
Vrk1	A	G	12: 106,018,024 (GRCm39)	K98E	possibly damaging	Het
Zcchc2	C	T	1: 105,958,322 (GRCm39)	T931I	possibly damaging	Het
Zfc3h1	T	A	10: 115,246,598 (GRCm39)	L895H	probably damaging	Het
Zfp101	T	C	17: 33,601,318 (GRCm39)	E108G	probably benign	Het
Zfp609	A	G	9: 65,610,137 (GRCm39)	V942A	probably benign	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
R0095: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
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'- TGGTCCGAATAGTTACAGTGGTAT -3'
(R):5'- CCTTCGAAACTGCATTTTGTTAAA -3'

Sequencing Primer
(F):5'- GACTTTGGAAATTATAGTGGACAGC -3'
(R):5'- TCCTGAACAAGAAGGGTTTCCTG -3'

Posted On

2016-10-05