Mutagenetix > Incidental Mutation

Incidental Mutation 'R8437:Hnrnpa3'

654028

Institutional Source

Beutler Lab

Gene Symbol

Hnrnpa3

Ensembl Gene

ENSMUSG00000059005

Gene Name

heterogeneous nuclear ribonucleoprotein A3

Synonyms

Hnrpa3, 2610510D13Rik, 2410013L13Rik, 2610209F03Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.836) question?

Stock #

R8437 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75659261-75669407 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 75662675 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 220 (S220A)

Ref Sequence

ENSEMBL: ENSMUSP00000107595 (fasta)

Gene Model

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

AlphaFold

Q8BG05

Predicted Effect

unknown
Transcript: ENSMUST00000090792
AA Change: S220A

SMART Domains

Protein: ENSMUSP00000088298
Gene: ENSMUSG00000059005
AA Change: S220A

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: S220A

SMART Domains

Protein: ENSMUSP00000107592
Gene: ENSMUSG00000059005
AA Change: S220A

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: S198A

SMART Domains

Protein: ENSMUSP00000107593
Gene: ENSMUSG00000059005
AA Change: S198A

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

unknown
Transcript: ENSMUST00000111964
AA Change: S220A

SMART Domains

Protein: ENSMUSP00000107595
Gene: ENSMUSG00000059005
AA Change: S220A

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: ENSMUST00000141974
AA Change: S35A

SMART Domains

Protein: ENSMUSP00000116125
Gene: ENSMUSG00000059005
AA Change: S35A

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: S198A

SMART Domains

Protein: ENSMUSP00000126069
Gene: ENSMUSG00000059005
AA Change: S198A

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

Meta Mutation Damage Score

0.0691

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (50/50)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd2	T	C	7: 79,348,430	Y237H	probably damaging	Het
Adprh	T	C	16: 38,446,087	E231G	probably benign	Het
Anks6	T	C	4: 47,030,705	S631G	probably benign	Het
Bpifa5	T	A	2: 154,165,606	L156H	probably damaging	Het
Bsn	G	A	9: 108,111,452	A2367V	probably benign	Het
C8b	T	C	4: 104,786,843	Y236H	probably damaging	Het
Celf2	C	T	2: 6,547,145	G508S	probably damaging	Het
Clca1	T	C	3: 145,005,061	T794A	probably benign	Het
Col27a1	T	A	4: 63,319,464		probably benign	Het
Cyp2j12	C	T	4: 96,099,662	C497Y	probably damaging	Het
Dnmt3l	T	C	10: 78,052,768	I168T	possibly damaging	Het
Dtna	C	T	18: 23,590,341	Q201*	probably null	Het
Fetub	T	C	16: 22,934,235	S146P	possibly damaging	Het
Gak	T	G	5: 108,609,406	E242D	probably benign	Het
Gfpt2	T	A	11: 49,804,867		probably benign	Het
Ginm1	C	T	10: 7,770,366	C290Y	probably benign	Het
Hepacam	T	C	9: 37,384,710	S386P	probably damaging	Het
Hmcn2	C	A	2: 31,391,076	L1867I	probably benign	Het
Hydin	A	G	8: 110,462,735	E1257G	probably damaging	Het
Ier3ip1	C	T	18: 76,930,178	A18V	probably damaging	Het
Ift140	T	A	17: 25,094,677	C1361S	probably damaging	Het
Il16	T	C	7: 83,652,143	Q955R	probably damaging	Het
Itpr3	T	G	17: 27,107,303	M1349R	probably damaging	Het
Kcnk4	C	T	19: 6,926,234	V316I	probably benign	Het
March6	A	G	15: 31,482,549	I501T	possibly damaging	Het
Msl2	T	A	9: 101,100,968	S180R	probably benign	Het
Muc16	C	T	9: 18,657,924	V1100I	unknown	Het
Nbas	T	C	12: 13,566,250	V2263A	possibly damaging	Het
Olfr1416	C	T	1: 92,480,465	S52N	probably benign	Het
Olfr853	C	T	9: 19,537,537	R131H	probably benign	Het
Pdilt	T	G	7: 119,514,886	I130L	possibly damaging	Het
Phldb3	A	G	7: 24,628,950	T640A	probably damaging	Het
Pole2	G	C	12: 69,204,187	Y467*	probably null	Het
Pxdn	C	T	12: 30,002,044	T740M	probably damaging	Het
Rabac1	T	C	7: 24,972,247	I83V	probably damaging	Het
Rrp7a	T	C	15: 83,117,572	Q245R	probably damaging	Het
Sae1	A	G	7: 16,370,354	V110A	probably damaging	Het
Sema3c	G	T	5: 17,662,938	V116F	probably damaging	Het
Serpina3i	A	G	12: 104,265,704	Y200C	probably damaging	Het
Slc25a45	C	T	19: 5,880,107	T35M	probably benign	Het
Speer4b	C	T	5: 27,498,820	R107Q	probably benign	Het
Sycp2	T	C	2: 178,364,858	T843A	probably damaging	Het
Tecta	T	A	9: 42,332,560	I2004F	probably damaging	Het
Tma16	T	C	8: 66,476,796	D182G	possibly damaging	Het
Topaz1	T	A	9: 122,781,362	Y1167*	probably null	Het
Uck1	C	A	2: 32,260,141		probably benign	Het
Usp25	A	G	16: 77,033,912	T19A	probably damaging	Het
Vpreb2	G	A	16: 17,980,889	G80S	probably damaging	Het
Wdfy4	A	G	14: 33,076,375	C2025R		Het
Zyg11a	T	A	4: 108,217,906	H6L	probably damaging	Het

Other mutations in Hnrnpa3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0076:Hnrnpa3	UTSW	2	75661696	missense	probably damaging	1.00
R0095:Hnrnpa3	UTSW	2	75661696	missense	probably damaging	1.00
R4583:Hnrnpa3	UTSW	2	75663606	missense	probably benign	0.23
R4762:Hnrnpa3	UTSW	2	75662007	missense	possibly damaging	0.95
R5499:Hnrnpa3	UTSW	2	75665240	missense	probably benign	0.23
R5802:Hnrnpa3	UTSW	2	75665056	missense	unknown
R6253:Hnrnpa3	UTSW	2	75662570	missense	possibly damaging	0.82
R8233:Hnrnpa3	UTSW	2	75662516	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- CAGAAATACCACACTATTAATGGGC -3'
(R):5'- TTGAGGCCTTGTGATTCCC -3'

Sequencing Primer
(F):5'- CCACACTATTAATGGGCATAATTGTG -3'
(R):5'- TGTGATTCCCAGCAATGCAG -3'

Posted On

2020-10-20