Mutagenetix > Incidental Mutation

Incidental Mutation 'R7449:Hnrnpdl'

577548

Institutional Source

Beutler Lab

Gene Symbol

Hnrnpdl

Ensembl Gene

ENSMUSG00000029328

Gene Name

heterogeneous nuclear ribonucleoprotein D-like

Synonyms

JKTBP, D5Wsu145e, hnRNP-DL, D5Ertd650e, Hnrpdl

MMRRC Submission

045524-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.208) question?

Stock #

R7449 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

100033577-100039664 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 100037155 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 279 (I279T)

Ref Sequence

ENSEMBL: ENSMUSP00000121005 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031268] [ENSMUST00000086900] [ENSMUST00000128187] [ENSMUST00000149384] [ENSMUST00000169390]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000031268

SMART Domains

Protein: ENSMUSP00000031268
Gene: ENSMUSG00000029326

Domain	Start	End	E-Value	Type
Pfam:HAD_2	13	227	2.6e-25	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000086900
AA Change: I279T

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

SMART Domains

Protein: ENSMUSP00000084114
Gene: ENSMUSG00000029328
AA Change: I279T

Domain	Start	End	E-Value	Type
low complexity region	31	57	N/A	INTRINSIC
low complexity region	70	88	N/A	INTRINSIC
low complexity region	99	109	N/A	INTRINSIC
RRM	149	221	1.74e-23	SMART
RRM	234	306	3.56e-20	SMART
low complexity region	315	344	N/A	INTRINSIC
low complexity region	347	362	N/A	INTRINSIC
low complexity region	370	393	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000128187
AA Change: I279T

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

SMART Domains

Protein: ENSMUSP00000121005
Gene: ENSMUSG00000029328
AA Change: I279T

Domain	Start	End	E-Value	Type
low complexity region	31	57	N/A	INTRINSIC
low complexity region	70	88	N/A	INTRINSIC
low complexity region	99	109	N/A	INTRINSIC
RRM	149	221	1.74e-23	SMART
RRM	234	306	3.56e-20	SMART
low complexity region	315	344	N/A	INTRINSIC
low complexity region	347	362	N/A	INTRINSIC
low complexity region	370	393	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000149384

SMART Domains

Protein: ENSMUSP00000117589
Gene: ENSMUSG00000029328

Domain	Start	End	E-Value	Type
low complexity region	10	20	N/A	INTRINSIC
Blast:RRM	28	59	1e-13	BLAST
low complexity region	63	83	N/A	INTRINSIC

Predicted Effect

SMART Domains

Protein: ENSMUSP00000118555
Gene: ENSMUSG00000029328
AA Change: I181T

Domain	Start	End	E-Value	Type
RRM	52	124	1.74e-23	SMART
RRM	137	209	3.56e-20	SMART
low complexity region	218	247	N/A	INTRINSIC
low complexity region	250	265	N/A	INTRINSIC
low complexity region	273	296	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000169390

SMART Domains

Protein: ENSMUSP00000129704
Gene: ENSMUSG00000029326

Domain	Start	End	E-Value	Type
Pfam:HAD_2	13	227	2.6e-23	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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 RRM domains that bind to RNAs. Three alternatively spliced transcript variants have been described for this gene. One of the variants is probably not translated because the transcript is a candidate for nonsense-mediated mRNA decay. The protein isoforms encoded by this gene are similar to its family member HNRPD. [provided by RefSeq, May 2011]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	A	7: 120,435,908	Y306N	possibly damaging	Het
Adgrv1	A	T	13: 81,499,073	V3116D	probably damaging	Het
Adssl1	A	T	12: 112,634,151	T185S	probably damaging	Het
Ago2	G	A	15: 73,146,499	P30L	probably damaging	Het
Atp5j	C	T	16: 84,831,363	V44M	probably benign	Het
Atp7b	T	A	8: 22,011,849	I833F	probably damaging	Het
Birc6	T	A	17: 74,702,341	N4869K	probably benign	Het
Cacna1c	C	T	6: 118,602,349	D1796N		Het
Ccng2	C	G	5: 93,273,343	S237R	probably benign	Het
Cnga1	A	G	5: 72,605,304	I289T	probably benign	Het
Crybg1	C	A	10: 44,004,519	E224D	probably benign	Het
Dysf	T	C	6: 84,137,380	L1217P	possibly damaging	Het
Ebf2	T	A	14: 67,410,020	N339K	probably damaging	Het
Eva1c	T	C	16: 90,876,193		probably null	Het
Fam172a	A	G	13: 77,759,442	I41V	probably damaging	Het
Fam184a	T	C	10: 53,698,634	E293G	probably damaging	Het
Folh1	G	A	7: 86,731,748	P506S	probably benign	Het
Ftcd	A	T	10: 76,580,163	K210N	probably benign	Het
Gdf6	T	A	4: 9,844,494	V6D	possibly damaging	Het
Ghitm	C	A	14: 37,131,581	G101C	probably damaging	Het
Gimap5	T	A	6: 48,752,904	V136D	probably damaging	Het
Gm9745	T	A	13: 8,943,304	H51L	probably damaging	Het
Grm4	C	T	17: 27,435,371	G535D	probably damaging	Het
Gse1	T	C	8: 120,229,711	S314P	unknown	Het
Itpr1	T	C	6: 108,389,384	S923P	probably damaging	Het
Krt39	C	A	11: 99,518,061	C303F	probably benign	Het
Lrrn1	T	C	6: 107,568,521	S427P	possibly damaging	Het
Lrrn3	T	A	12: 41,453,488	R277W	probably damaging	Het
Ltb4r1	T	C	14: 55,767,918	L226P	probably damaging	Het
Map1b	C	T	13: 99,508,140	R85Q	probably damaging	Het
Mcoln1	T	C	8: 3,507,285	L125P	probably damaging	Het
Nid1	T	G	13: 13,482,051	V589G	probably damaging	Het
Nlrp5	T	G	7: 23,417,526	F225C	probably benign	Het
Notch3	C	T	17: 32,157,966	A322T	probably damaging	Het
Olfr299	A	G	7: 86,465,855	H148R	probably benign	Het
Olfr69	G	T	7: 103,767,819	Q193K	probably benign	Het
Olfr854	T	A	9: 19,566,866	T173S	probably benign	Het
Otogl	A	G	10: 107,803,663	C1363R	probably damaging	Het
Ovol1	T	A	19: 5,553,597	D92V	probably benign	Het
Pigt	T	C	2: 164,502,499	L356P	probably damaging	Het
Plekhg3	A	G	12: 76,566,222	Q434R	probably damaging	Het
Plekhh1	T	C	12: 79,079,552	F1344L	probably benign	Het
Psmd3	T	A	11: 98,695,551	L515Q	probably damaging	Het
Pus1	A	G	5: 110,774,586	L405P	probably damaging	Het
Qtrt2	T	A	16: 43,881,032	H55L	probably benign	Het
Rasgrp1	T	C	2: 117,287,943	I522V	probably damaging	Het
Raver2	T	A	4: 101,102,663	H113Q	probably damaging	Het
Recql4	T	C	15: 76,705,565	D760G	unknown	Het
Rhobtb3	C	T	13: 75,910,741	V313M	probably benign	Het
Rhox4d	G	A	X: 37,518,992	G191E	unknown	Het
Rictor	C	T	15: 6,772,154	S441L	probably benign	Het
Rnf185	T	C	11: 3,426,578	Q135R	probably benign	Het
Sema3f	T	C	9: 107,684,036	S584G	probably damaging	Het
Sh3pxd2a	T	A	19: 47,267,652	T904S	probably benign	Het
Slc4a10	T	C	2: 62,303,946	V1002A	probably benign	Het
Taf1b	T	C	12: 24,504,993	I55T	probably benign	Het
Tchh	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	3: 93,446,708		probably benign	Het
Tenm4	A	T	7: 96,874,213	D1654V	possibly damaging	Het
Tgfb1	G	A	7: 25,704,838	V357M	probably damaging	Het
Tnxb	C	T	17: 34,703,361	P2383S	possibly damaging	Het
Trpm1	A	T	7: 64,208,975	M382L	probably benign	Het
Trrap	A	G	5: 144,851,209	Y3516C	probably damaging	Het
Txnrd1	T	A	10: 82,885,233	Y494*	probably null	Het
Ubr2	C	T	17: 46,964,788	E811K	probably damaging	Het
Ubxn4	T	A	1: 128,244,543	F25I	possibly damaging	Het
Vmn2r117	A	G	17: 23,459,895	M785T	probably damaging	Het
Vmn2r99	G	A	17: 19,379,145	D364N	probably benign	Het
Vps45	C	A	3: 96,047,136		probably null	Het
Wdr25	A	C	12: 109,026,441	H426P	probably damaging	Het
Wdr83	A	T	8: 85,079,681	W136R	probably damaging	Het
Xylt1	A	C	7: 117,592,005	I343L	possibly damaging	Het
Znrd1as	A	G	17: 36,964,383	D16G	probably damaging	Het
Zscan4b	T	C	7: 10,904,058	Q53R	possibly damaging	Het

Other mutations in Hnrnpdl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02751:Hnrnpdl	APN	5	100037974	missense	probably damaging	1.00
IGL02981:Hnrnpdl	APN	5	100037099	missense	possibly damaging	0.75
IGL03087:Hnrnpdl	APN	5	100037601	missense	probably damaging	1.00
R4756:Hnrnpdl	UTSW	5	100037924	nonsense	probably null
R4812:Hnrnpdl	UTSW	5	100036472	unclassified	probably benign
R5154:Hnrnpdl	UTSW	5	100036512	nonsense	probably null
R6082:Hnrnpdl	UTSW	5	100036481	missense	probably null	1.00
R6086:Hnrnpdl	UTSW	5	100036481	missense	probably null	1.00
R6143:Hnrnpdl	UTSW	5	100036551	nonsense	probably null
R6305:Hnrnpdl	UTSW	5	100038658	unclassified	probably benign
R6807:Hnrnpdl	UTSW	5	100039136	missense	probably null
R7309:Hnrnpdl	UTSW	5	100037623	nonsense	probably null
R8098:Hnrnpdl	UTSW	5	100037920	missense	probably benign	0.05
R8922:Hnrnpdl	UTSW	5	100036560	nonsense	probably null
X0020:Hnrnpdl	UTSW	5	100036569	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- GCGCAACTTTGATTTCGCAC -3'
(R):5'- AGCCCCAAAGGTGTAAAGTG -3'

Sequencing Primer
(F):5'- ACTTTGATTTCGCACTGTAAATAAAC -3'
(R):5'- GCCCCAAAGGTGTAAAGTGTTTCAC -3'

Posted On

2019-10-07