Mutagenetix > Incidental Mutation

Incidental Mutation 'R7309:Hnrnpdl'

567436

Institutional Source

Beutler Lab

Gene Symbol

Hnrnpdl

Ensembl Gene

ENSMUSG00000029328

Gene Name

heterogeneous nuclear ribonucleoprotein D-like

Synonyms

D5Wsu145e, hnRNP-DL, D5Ertd650e, Hnrpdl, JKTBP

MMRRC Submission

045408-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.243) question?

Stock #

R7309 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

100181436-100187523 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 100185482 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 240 (L240*)

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 null
Transcript: ENSMUST00000086900
AA Change: L240*

SMART Domains

Protein: ENSMUSP00000084114
Gene: ENSMUSG00000029328
AA Change: L240*

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 null
Transcript: ENSMUST00000128187
AA Change: L240*

SMART Domains

Protein: ENSMUSP00000121005
Gene: ENSMUSG00000029328
AA Change: L240*

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

probably null
Transcript: ENSMUST00000153442
AA Change: L142*

SMART Domains

Protein: ENSMUSP00000118555
Gene: ENSMUSG00000029328
AA Change: L142*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

94% (47/50)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	C	5: 109,884,819 (GRCm39)	H346Q	probably damaging	Het
4932414N04Rik	A	T	2: 68,546,530 (GRCm39)	I71L	probably benign	Het
Anapc1	A	G	2: 128,516,604 (GRCm39)	S377P	probably damaging	Het
Cldnd2	A	G	7: 43,091,133 (GRCm39)	T22A	possibly damaging	Het
Comp	A	T	8: 70,826,328 (GRCm39)		probably null	Het
Cop1	A	G	1: 159,134,195 (GRCm39)	K446E	probably damaging	Het
Cox18	T	C	5: 90,362,917 (GRCm39)	T314A	possibly damaging	Het
Csrp3	A	G	7: 48,485,317 (GRCm39)	V60A	probably benign	Het
Dnah8	A	T	17: 31,093,988 (GRCm39)	Y4694F	probably damaging	Het
Dnm1l	A	G	16: 16,139,510 (GRCm39)	Y493H	probably damaging	Het
Esf1	A	T	2: 139,967,011 (GRCm39)		probably null	Het
Fam187a	T	A	11: 102,776,832 (GRCm39)	V212E	probably damaging	Het
Fign	A	T	2: 63,810,301 (GRCm39)	M323K	possibly damaging	Het
Foxf2	A	G	13: 31,810,496 (GRCm39)	K145R	probably damaging	Het
Fxyd5	T	C	7: 30,734,829 (GRCm39)	N133D	probably benign	Het
Kcna7	T	G	7: 45,058,679 (GRCm39)	F322C	probably damaging	Het
Kcnj9	A	G	1: 172,153,825 (GRCm39)	C100R	probably damaging	Het
Lrrc14b	C	A	13: 74,511,321 (GRCm39)	C253F	probably benign	Het
Map3k11	T	C	19: 5,740,486 (GRCm39)	V71A	probably damaging	Het
Med13	C	A	11: 86,181,888 (GRCm39)	M1315I	probably benign	Het
Mettl24	T	C	10: 40,686,496 (GRCm39)	V291A	probably benign	Het
Miox	G	T	15: 89,220,252 (GRCm39)	C148F	probably damaging	Het
Mpdz	A	T	4: 81,300,195 (GRCm39)		probably null	Het
Mthfsd	G	A	8: 121,835,070 (GRCm39)		probably benign	Het
Myh15	G	A	16: 48,916,828 (GRCm39)	A383T	probably benign	Het
Nlrc5	A	G	8: 95,200,670 (GRCm39)	H117R	probably benign	Het
Ntrk1	A	T	3: 87,702,384 (GRCm39)	M23K	probably benign	Het
Or14c45	T	A	7: 86,176,349 (GRCm39)	L128H	probably damaging	Het
Or4c3d	T	A	2: 89,881,801 (GRCm39)	N289I	probably damaging	Het
Or8g21	T	A	9: 38,906,576 (GRCm39)	S52C	probably damaging	Het
Pkd1l3	A	G	8: 110,374,893 (GRCm39)		probably null	Het
Plcz1	A	T	6: 139,968,882 (GRCm39)	D185E	probably damaging	Het
Plekhg5	C	A	4: 152,196,985 (GRCm39)	Q757K	possibly damaging	Het
Prr23a2	T	A	9: 98,739,027 (GRCm39)	D128E	probably benign	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,118 (GRCm39)		probably benign	Het
Sgsm1	A	T	5: 113,416,712 (GRCm39)		probably null	Het
Sh3bp5	C	T	14: 31,100,246 (GRCm39)	V221M	probably benign	Het
Slc25a27	A	T	17: 43,975,083 (GRCm39)	D59E	probably benign	Het
Slc35e1	G	C	8: 73,246,358 (GRCm39)	R25G	unknown	Het
Slc4a4	T	C	5: 89,318,610 (GRCm39)	V626A	probably benign	Het
Slfn5	T	C	11: 82,847,529 (GRCm39)	L138P	probably damaging	Het
Stat1	A	G	1: 52,165,780 (GRCm39)		probably null	Het
Tnks2	G	T	19: 36,829,936 (GRCm39)	A206S	probably damaging	Het
Trav7-1	C	A	14: 52,892,521 (GRCm39)	Q25K	probably benign	Het
Ttn	A	G	2: 76,728,670 (GRCm39)	M5470T	unknown	Het
Vps35	A	T	8: 86,001,596 (GRCm39)	D407E	probably benign	Het
Wdr90	T	C	17: 26,079,676 (GRCm39)	D190G	probably benign	Het
Wdr93	T	A	7: 79,423,103 (GRCm39)	F456I	possibly damaging	Het
Wdr95	A	G	5: 149,529,758 (GRCm39)	E675G	probably benign	Het

Other mutations in Hnrnpdl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02751:Hnrnpdl	APN	5	100,185,833 (GRCm39)	missense	probably damaging	1.00
IGL02981:Hnrnpdl	APN	5	100,184,958 (GRCm39)	missense	possibly damaging	0.75
IGL03087:Hnrnpdl	APN	5	100,185,460 (GRCm39)	missense	probably damaging	1.00
R4756:Hnrnpdl	UTSW	5	100,185,783 (GRCm39)	nonsense	probably null
R4812:Hnrnpdl	UTSW	5	100,184,331 (GRCm39)	unclassified	probably benign
R5154:Hnrnpdl	UTSW	5	100,184,371 (GRCm39)	nonsense	probably null
R6082:Hnrnpdl	UTSW	5	100,184,340 (GRCm39)	missense	probably null	1.00
R6086:Hnrnpdl	UTSW	5	100,184,340 (GRCm39)	missense	probably null	1.00
R6143:Hnrnpdl	UTSW	5	100,184,410 (GRCm39)	nonsense	probably null
R6305:Hnrnpdl	UTSW	5	100,186,517 (GRCm39)	unclassified	probably benign
R6807:Hnrnpdl	UTSW	5	100,186,995 (GRCm39)	missense	probably null
R7449:Hnrnpdl	UTSW	5	100,185,014 (GRCm39)	missense	probably damaging	0.99
R8098:Hnrnpdl	UTSW	5	100,185,779 (GRCm39)	missense	probably benign	0.05
R8922:Hnrnpdl	UTSW	5	100,184,419 (GRCm39)	nonsense	probably null
X0020:Hnrnpdl	UTSW	5	100,184,428 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- TACACCTTTGGGGCTTTGGC -3'
(R):5'- AGTCTACTGCGTTGCTTGC -3'

Sequencing Primer
(F):5'- TGGTTTCCACTACAACATAGAAAGC -3'
(R):5'- GCAAGTTGCTCTAGGCTTTTAAGTCC -3'

Posted On

2019-06-26