Mutagenetix > Incidental Mutation

Incidental Mutation 'R0469:Hnrnph3'

43149

Institutional Source

Beutler Lab

Gene Symbol

Hnrnph3

Ensembl Gene

ENSMUSG00000020069

Gene Name

heterogeneous nuclear ribonucleoprotein H3

Synonyms

Hnrph3, hnRNP 2H9

MMRRC Submission

038669-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.442) question?

Stock #

R0469 (G1)

Quality Score

180

Status

Not validated

Chromosome

Chromosomal Location

62850443-62859764 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 62855279 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 2 (D2V)

Ref Sequence

ENSEMBL: ENSMUSP00000118444 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020263] [ENSMUST00000118898] [ENSMUST00000119814] [ENSMUST00000124784] [ENSMUST00000140743] [ENSMUST00000143594]

AlphaFold

D3Z3N4

Predicted Effect

unknown
Transcript: ENSMUST00000020263
AA Change: D2V

SMART Domains

Protein: ENSMUSP00000020263
Gene: ENSMUSG00000020069
AA Change: D2V

Domain	Start	End	E-Value	Type
RRM	17	89	1.11e-7	SMART
low complexity region	102	191	N/A	INTRINSIC
RRM	196	266	7.96e-9	SMART
low complexity region	272	286	N/A	INTRINSIC
low complexity region	294	341	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000118898
AA Change: D2V

SMART Domains

Protein: ENSMUSP00000112424
Gene: ENSMUSG00000020069
AA Change: D2V

Domain	Start	End	E-Value	Type
RRM	17	89	1.11e-7	SMART
low complexity region	102	176	N/A	INTRINSIC
RRM	181	251	7.96e-9	SMART
low complexity region	257	271	N/A	INTRINSIC
low complexity region	279	326	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000119814
AA Change: D2V

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113134
Gene: ENSMUSG00000020069
AA Change: D2V

Domain	Start	End	E-Value	Type
PDB:1WG5\|A	10	39	3e-11	PDB
Blast:RRM	17	43	6e-9	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000124784

SMART Domains

Protein: ENSMUSP00000121682
Gene: ENSMUSG00000020072

Domain	Start	End	E-Value	Type
Pfam:PhzC-PhzF	69	175	1.5e-39	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000140743
AA Change: D2V

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000118444
Gene: ENSMUSG00000020069
AA Change: D2V

Domain	Start	End	E-Value	Type
PDB:1WG5\|A	10	39	3e-11	PDB
Blast:RRM	17	43	6e-9	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141616

Predicted Effect

probably benign
Transcript: ENSMUST00000143594

SMART Domains

Protein: ENSMUSP00000115339
Gene: ENSMUSG00000020070

Domain	Start	End	E-Value	Type
RUN	105	167	3.02e-22	SMART
coiled coil region	210	268	N/A	INTRINSIC
coiled coil region	326	406	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143689

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.2%
20x: 92.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has two repeats of quasi-RRM domains that bind to RNAs. It is localized in nuclear bodies of the nucleus. This protein is involved in the splicing process and it also participates in early heat shock-induced splicing arrest by transiently leaving the hnRNP complexes. Several alternatively spliced transcript variants have been noted for this gene, however, not all are fully characterized. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	A	G	5: 105,125,482 (GRCm39)	I67T	probably damaging	Het
Acoxl	G	A	2: 127,722,423 (GRCm39)		probably null	Het
Adam10	T	A	9: 70,655,530 (GRCm39)	W333R	probably damaging	Het
Ahnak	C	T	19: 8,995,596 (GRCm39)	R5627*	probably null	Het
Alms1	A	T	6: 85,597,351 (GRCm39)	R1195*	probably null	Het
Arih2	T	A	9: 108,482,291 (GRCm39)	H490L	possibly damaging	Het
Arpc1b	T	A	5: 145,064,525 (GRCm39)	W361R	probably damaging	Het
B3gntl1	A	T	11: 121,563,851 (GRCm39)	V3D	probably benign	Het
Baiap2l1	T	C	5: 144,212,701 (GRCm39)	Y438C	probably damaging	Het
Bicc1	C	A	10: 70,915,045 (GRCm39)	R73L	probably benign	Het
Ccdc110	T	A	8: 46,388,194 (GRCm39)	N50K	probably benign	Het
Ccdc168	T	A	1: 44,100,257 (GRCm39)	K280N	possibly damaging	Het
Cep76	A	T	18: 67,767,850 (GRCm39)	N227K	probably benign	Het
Col6a4	A	T	9: 105,957,746 (GRCm39)	V26D	probably damaging	Het
Cpe	T	A	8: 65,064,501 (GRCm39)	I233F	probably damaging	Het
Cpsf2	T	C	12: 101,955,045 (GRCm39)	V272A	probably damaging	Het
Defa34	A	G	8: 22,155,988 (GRCm39)		probably null	Het
Dnah12	A	G	14: 26,520,856 (GRCm39)	R1892G	probably damaging	Het
Efr3b	G	T	12: 4,032,058 (GRCm39)	D183E	probably benign	Het
Epyc	A	G	10: 97,485,625 (GRCm39)	T22A	probably benign	Het
Fam83a	C	A	15: 57,873,322 (GRCm39)	Q384K	probably benign	Het
Fam83b	G	T	9: 76,400,108 (GRCm39)	L332I	possibly damaging	Het
Ggn	C	T	7: 28,870,721 (GRCm39)	P47S	probably damaging	Het
Gli3	T	G	13: 15,899,370 (GRCm39)	L919R	probably damaging	Het
Golgb1	A	G	16: 36,751,997 (GRCm39)	I3144V	probably benign	Het
Gpr108	T	C	17: 57,542,358 (GRCm39)	D549G	possibly damaging	Het
Gpr39	C	T	1: 125,605,237 (GRCm39)	T55M	probably damaging	Het
Grk4	A	G	5: 34,873,557 (GRCm39)	T208A	probably damaging	Het
Gucy2e	T	C	11: 69,126,402 (GRCm39)	D326G	probably benign	Het
H2-Eb2	C	T	17: 34,553,218 (GRCm39)	Q135*	probably null	Het
Hectd4	T	A	5: 121,419,959 (GRCm39)	Y635N	possibly damaging	Het
Hectd4	G	A	5: 121,443,736 (GRCm39)	E1319K	possibly damaging	Het
Hs3st2	T	C	7: 121,099,792 (GRCm39)	S213P	probably damaging	Het
Ikbkb	A	T	8: 23,161,651 (GRCm39)	C412*	probably null	Het
Kctd21	T	C	7: 96,996,748 (GRCm39)	F74L	probably damaging	Het
Krt23	T	A	11: 99,377,608 (GRCm39)	I133L	probably damaging	Het
Krt74	T	C	15: 101,671,751 (GRCm39)		noncoding transcript	Het
Lmtk3	T	A	7: 45,443,536 (GRCm39)	L740M	possibly damaging	Het
Lrrc10	T	A	10: 116,881,695 (GRCm39)	L123Q	probably damaging	Het
Map1a	A	T	2: 121,136,255 (GRCm39)	H2357L	probably benign	Het
Mcf2l	A	G	8: 13,047,337 (GRCm39)	D233G	probably damaging	Het
Mdn1	A	G	4: 32,738,619 (GRCm39)	N3524S	probably benign	Het
Msto1	A	G	3: 88,818,848 (GRCm39)	L269P	probably benign	Het
Naca	C	T	10: 127,880,659 (GRCm39)	A1897V	probably benign	Het
Or1j10	A	T	2: 36,267,474 (GRCm39)	I229F	probably benign	Het
Or4a39	A	T	2: 89,237,135 (GRCm39)	M96K	probably damaging	Het
Or5w15	A	G	2: 87,567,825 (GRCm39)	V281A	probably damaging	Het
Or8b12i	T	C	9: 20,082,561 (GRCm39)	Y102C	probably benign	Het
Pdzrn3	A	T	6: 101,128,014 (GRCm39)	I884N	probably damaging	Het
Phf24	G	T	4: 42,933,761 (GRCm39)	V48L	possibly damaging	Het
Pkn1	C	A	8: 84,398,953 (GRCm39)	C678F	probably damaging	Het
Pla2g4a	T	A	1: 149,716,398 (GRCm39)	M688L	possibly damaging	Het
Ppp1r3c	A	T	19: 36,711,617 (GRCm39)	F51Y	possibly damaging	Het
Psen2	T	C	1: 180,066,479 (GRCm39)	T153A	probably damaging	Het
Rbmx	C	T	X: 56,436,926 (GRCm39)		probably null	Het
Rbp3	A	G	14: 33,684,376 (GRCm39)	K1135R	possibly damaging	Het
Slco2b1	T	A	7: 99,310,743 (GRCm39)	M603L	probably benign	Het
Sncaip	A	G	18: 53,001,781 (GRCm39)	T101A	probably benign	Het
Ssh1	A	T	5: 114,084,766 (GRCm39)	D448E	probably benign	Het
Ssmem1	A	T	6: 30,519,547 (GRCm39)		probably null	Het
Stk11	T	C	10: 79,961,920 (GRCm39)	V47A	probably damaging	Het
Sv2b	T	G	7: 74,786,140 (GRCm39)	M427L	probably benign	Het
Syne1	A	G	10: 5,317,600 (GRCm39)	L498P	probably damaging	Het
Syne2	T	C	12: 75,900,923 (GRCm39)		probably null	Het
Taf6l	G	T	19: 8,755,885 (GRCm39)	H254Q	probably benign	Het
Tas2r123	T	C	6: 132,824,295 (GRCm39)	V64A	probably benign	Het
Tm9sf1	A	T	14: 55,878,886 (GRCm39)	F169I	possibly damaging	Het
Tmpo	A	C	10: 90,998,958 (GRCm39)	I276M	probably benign	Het
Tnnc1	A	G	14: 30,933,365 (GRCm39)	D149G	probably damaging	Het
Tpr	AAGAGAGAGAGAGAG	AAGAGAGAGAGAG	1: 150,299,418 (GRCm39)		probably null	Het
Traf3ip3	T	A	1: 192,860,539 (GRCm39)		probably null	Het
Trim55	G	T	3: 19,725,256 (GRCm39)	V258L	possibly damaging	Het
Trpm1	G	A	7: 63,873,506 (GRCm39)	G587D	probably damaging	Het
Ttn	A	G	2: 76,560,756 (GRCm39)	V29215A	probably damaging	Het
Ube2u	A	G	4: 100,343,870 (GRCm39)	I90V	probably benign	Het
Upb1	T	C	10: 75,250,917 (GRCm39)		probably null	Het
Vmn2r57	A	T	7: 41,077,216 (GRCm39)	S317T	possibly damaging	Het
Wdr73	G	A	7: 80,547,698 (GRCm39)	Q107*	probably null	Het
Zfp628	A	T	7: 4,922,732 (GRCm39)	Q318L	probably benign	Het

Other mutations in Hnrnph3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01324:Hnrnph3	APN	10	62,853,903 (GRCm39)	makesense	probably null
IGL02112:Hnrnph3	APN	10	62,852,184 (GRCm39)	critical splice donor site	probably null
IGL02116:Hnrnph3	APN	10	62,851,855 (GRCm39)	intron	probably benign
IGL02193:Hnrnph3	APN	10	62,853,056 (GRCm39)	missense	probably damaging	0.98
IGL02211:Hnrnph3	APN	10	62,853,121 (GRCm39)	unclassified	probably benign
IGL02410:Hnrnph3	APN	10	62,851,503 (GRCm39)	intron	probably benign
IGL02616:Hnrnph3	APN	10	62,855,264 (GRCm39)	missense	possibly damaging	0.66
IGL03033:Hnrnph3	APN	10	62,853,958 (GRCm39)	missense	probably benign	0.00
IGL03367:Hnrnph3	APN	10	62,853,008 (GRCm39)	missense	probably damaging	1.00
R0450:Hnrnph3	UTSW	10	62,855,279 (GRCm39)	missense	probably damaging	0.99
R0450:Hnrnph3	UTSW	10	62,853,994 (GRCm39)	missense	probably benign	0.01
R0469:Hnrnph3	UTSW	10	62,853,994 (GRCm39)	missense	probably benign	0.01
R1585:Hnrnph3	UTSW	10	62,851,579 (GRCm39)	critical splice donor site	probably null
R4285:Hnrnph3	UTSW	10	62,852,247 (GRCm39)	missense	probably damaging	1.00
R4706:Hnrnph3	UTSW	10	62,853,059 (GRCm39)	missense	probably damaging	1.00
R5606:Hnrnph3	UTSW	10	62,855,222 (GRCm39)	missense	possibly damaging	0.94
R5873:Hnrnph3	UTSW	10	62,855,170 (GRCm39)	critical splice donor site	probably null
R5952:Hnrnph3	UTSW	10	62,851,374 (GRCm39)	intron	probably benign
R6059:Hnrnph3	UTSW	10	62,854,641 (GRCm39)	unclassified	probably benign
R6644:Hnrnph3	UTSW	10	62,854,672 (GRCm39)	unclassified	probably benign
R7517:Hnrnph3	UTSW	10	62,854,674 (GRCm39)	missense	unknown
R9374:Hnrnph3	UTSW	10	62,853,957 (GRCm39)	missense	probably benign	0.01
R9436:Hnrnph3	UTSW	10	62,854,627 (GRCm39)	nonsense	probably null
R9437:Hnrnph3	UTSW	10	62,854,627 (GRCm39)	nonsense	probably null
R9781:Hnrnph3	UTSW	10	62,853,861 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GGCACGATTTCCAACCCTTTAACCC -3'
(R):5'- TAGAACACTGTTGCCGACTGTCCC -3'

Sequencing Primer
(F):5'- caaaaAGGCTTAGTTTCCCATCACC -3'
(R):5'- GACTGTCCCAGGAGTCACTTTAAC -3'

Posted On

2013-05-23