Mutagenetix > Incidental Mutation

Incidental Mutation 'R6253:Hnrnpa3'

506308

Institutional Source

Beutler Lab

Gene Symbol

Hnrnpa3

Ensembl Gene

ENSMUSG00000059005

Gene Name

heterogeneous nuclear ribonucleoprotein A3

Synonyms

2410013L13Rik, 2610209F03Rik, Hnrpa3, 2610510D13Rik

MMRRC Submission

044370-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.814) question?

Stock #

R6253 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

75489605-75499751 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 75492914 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Glutamic Acid at position 213 (Q213E)

Ref Sequence

ENSEMBL: ENSMUSP00000107592 (fasta)

Gene Model

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

AlphaFold

Q8BG05

Predicted Effect

unknown
Transcript: ENSMUST00000090792
AA Change: Q213E

SMART Domains

Protein: ENSMUSP00000088298
Gene: ENSMUSG00000059005
AA Change: Q213E

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: Q213E

PolyPhen 2 Score 0.823 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000107592
Gene: ENSMUSG00000059005
AA Change: Q213E

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: Q191E

SMART Domains

Protein: ENSMUSP00000107593
Gene: ENSMUSG00000059005
AA Change: Q191E

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: Q213E

SMART Domains

Protein: ENSMUSP00000107595
Gene: ENSMUSG00000059005
AA Change: Q213E

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: Q28E

SMART Domains

Protein: ENSMUSP00000116125
Gene: ENSMUSG00000059005
AA Change: Q28E

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: Q191E

SMART Domains

Protein: ENSMUSP00000126069
Gene: ENSMUSG00000059005
AA Change: Q191E

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	A	G	2: 19,528,929 (GRCm39)	Y151H	possibly damaging	Het
Aasdh	A	G	5: 77,034,105 (GRCm39)	I482T	possibly damaging	Het
Abca3	G	A	17: 24,616,526 (GRCm39)	M989I	probably benign	Het
Acvr2b	C	T	9: 119,257,627 (GRCm39)	P220L	probably damaging	Het
Aqr	T	C	2: 113,986,758 (GRCm39)	D204G	possibly damaging	Het
Arpp19	G	T	9: 74,964,016 (GRCm39)	D123Y	probably damaging	Het
Bod1l	A	G	5: 41,983,881 (GRCm39)	I554T	probably damaging	Het
Bpifa5	A	G	2: 154,005,420 (GRCm39)	M1V	probably null	Het
Cdh3	T	A	8: 107,263,695 (GRCm39)		probably null	Het
Cep170	A	T	1: 176,607,960 (GRCm39)	D165E	possibly damaging	Het
Cfap46	CCTTCTTCT	CCTTCT	7: 139,218,816 (GRCm39)		probably benign	Het
Cog3	A	G	14: 75,957,152 (GRCm39)	L627P	probably damaging	Het
Col23a1	C	T	11: 51,464,995 (GRCm39)	L453F	probably damaging	Het
Cyp2a22	T	A	7: 26,633,657 (GRCm39)	Q351L	probably benign	Het
Ddx4	T	G	13: 112,772,557 (GRCm39)	K77N	probably benign	Het
Ddx4	C	A	13: 112,772,556 (GRCm39)	E78*	probably null	Het
Decr1	A	T	4: 15,931,179 (GRCm39)	N92K	probably benign	Het
Dnm2	T	C	9: 21,411,571 (GRCm39)	L600P	probably damaging	Het
Ece2	A	C	16: 20,457,932 (GRCm39)	N356H	probably damaging	Het
Ern1	A	T	11: 106,317,734 (GRCm39)	I130N	possibly damaging	Het
Fat2	G	A	11: 55,187,097 (GRCm39)	R1250C	probably damaging	Het
Fat4	T	A	3: 39,005,505 (GRCm39)	V1968D	probably damaging	Het
Frmd6	A	G	12: 70,923,987 (GRCm39)	K82E	probably damaging	Het
Gm5431	A	G	11: 48,785,826 (GRCm39)	V183A	probably benign	Het
Golgb1	T	C	16: 36,735,984 (GRCm39)	S1744P	possibly damaging	Het
Hspa1a	A	G	17: 35,189,526 (GRCm39)	F459S	probably damaging	Het
Ice1	A	G	13: 70,751,283 (GRCm39)	L1601P	probably damaging	Het
Igkv19-93	T	A	6: 68,713,323 (GRCm39)	D102V	probably damaging	Het
Kansl1	G	A	11: 104,248,352 (GRCm39)	T534I	probably benign	Het
Lpin2	T	A	17: 71,538,264 (GRCm39)	S303R	probably damaging	Het
Lrpprc	T	A	17: 85,048,065 (GRCm39)	I845F	probably benign	Het
Mdn1	A	G	4: 32,749,593 (GRCm39)	T4259A	probably benign	Het
Mtcl2	T	C	2: 156,863,339 (GRCm39)	S1197G	probably benign	Het
Mtss1	A	G	15: 58,815,568 (GRCm39)	I664T	probably benign	Het
Myh8	A	G	11: 67,192,793 (GRCm39)	E1528G	probably benign	Het
Myo5c	A	T	9: 75,152,319 (GRCm39)	E69V	probably damaging	Het
Myom3	A	T	4: 135,513,203 (GRCm39)	D627V	probably benign	Het
Myom3	A	G	4: 135,528,314 (GRCm39)	N1053S	probably benign	Het
Or10a4	G	A	7: 106,697,464 (GRCm39)	R264H	possibly damaging	Het
Or2d2b	A	T	7: 106,705,145 (GRCm39)	S308T	probably benign	Het
Or6z3	T	C	7: 6,463,547 (GRCm39)	V13A	probably benign	Het
Phactr1	T	A	13: 43,248,247 (GRCm39)	S399T	probably benign	Het
Plch2	T	A	4: 155,091,558 (GRCm39)	Y84F	probably damaging	Het
Ppp1r13b	A	G	12: 111,802,160 (GRCm39)	S278P	probably benign	Het
Prol1	A	G	5: 88,475,736 (GRCm39)	Y42C	probably damaging	Het
Pum2	A	G	12: 8,798,205 (GRCm39)	E906G	probably damaging	Het
Pwwp3a	T	A	10: 80,068,848 (GRCm39)	C331S	probably benign	Het
Rbp2	G	T	9: 98,372,700 (GRCm39)	S13I	probably benign	Het
Rbp4	G	A	19: 38,113,428 (GRCm39)	T30M	probably benign	Het
Selenbp1	T	C	3: 94,851,157 (GRCm39)	L351P	possibly damaging	Het
Serpinb6b	T	C	13: 33,156,255 (GRCm39)	F115S	probably damaging	Het
Tigd3	A	T	19: 5,942,870 (GRCm39)	Y87N	probably damaging	Het
Tigd5	T	A	15: 75,782,871 (GRCm39)	L411H	probably damaging	Het
Ttc3	T	C	16: 94,258,272 (GRCm39)		probably null	Het
Uhmk1	T	C	1: 170,027,449 (GRCm39)	Q416R	probably damaging	Het
Zfand4	T	C	6: 116,250,575 (GRCm39)	F2L	probably damaging	Het
Zfhx3	C	T	8: 109,682,020 (GRCm39)	T3153M	possibly damaging	Het
Zfp697	T	G	3: 98,334,855 (GRCm39)	C207G	possibly damaging	Het
Zfp935	T	C	13: 62,602,685 (GRCm39)	T172A	probably benign	Het
Znrf3	G	T	11: 5,230,865 (GRCm39)	L883I	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
R5499:Hnrnpa3	UTSW	2	75,495,584 (GRCm39)	missense	probably benign	0.23
R5802:Hnrnpa3	UTSW	2	75,495,400 (GRCm39)	missense	unknown
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'- AGGCTGAGAACTATTGATCTAGATC -3'
(R):5'- TCCACGACCAAAGTTTCCTC -3'

Sequencing Primer
(F):5'- ATTGACTCATTCTCTTCTCAGTCTAC -3'
(R):5'- GTTTCCTCCACCACCTCCAAAG -3'

Posted On

2018-03-15