Mutagenetix > Incidental Mutation

Incidental Mutation 'R1024:Hnrnpd'

94713

Institutional Source

Beutler Lab

Gene Symbol

Hnrnpd

Ensembl Gene

ENSMUSG00000000568

Gene Name

heterogeneous nuclear ribonucleoprotein D

Synonyms

Hnrpd, Auf1

MMRRC Submission

039126-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.736) question?

Stock #

R1024 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

100103794-100126797 bp(-) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

C to A at 100114016 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Leucine at position 87 (*87L)

Ref Sequence

ENSEMBL: ENSMUSP00000131859 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019128] [ENSMUST00000072750] [ENSMUST00000112939] [ENSMUST00000164833] [ENSMUST00000168396] [ENSMUST00000170912] [ENSMUST00000172361] [ENSMUST00000171640] [ENSMUST00000171786]

AlphaFold

Q60668

Predicted Effect

probably damaging
Transcript: ENSMUST00000019128
AA Change: L162F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000019128
Gene: ENSMUSG00000000568
AA Change: L162F

Domain	Start	End	E-Value	Type
Pfam:CBFNT	1	79	1.3e-16	PFAM
RRM	98	170	3.85e-25	SMART
RRM	183	255	7.76e-21	SMART
low complexity region	262	268	N/A	INTRINSIC
low complexity region	270	289	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000072750
AA Change: L143F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000072533
Gene: ENSMUSG00000000568
AA Change: L143F

Domain	Start	End	E-Value	Type
low complexity region	7	66	N/A	INTRINSIC
RRM	79	151	3.85e-25	SMART
RRM	164	236	7.76e-21	SMART
low complexity region	243	249	N/A	INTRINSIC
low complexity region	251	270	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000112939
AA Change: L143F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000108561
Gene: ENSMUSG00000000568
AA Change: L143F

Domain	Start	End	E-Value	Type
low complexity region	7	66	N/A	INTRINSIC
RRM	79	151	3.85e-25	SMART
RRM	164	236	7.76e-21	SMART
low complexity region	243	249	N/A	INTRINSIC
low complexity region	251	266	N/A	INTRINSIC
low complexity region	272	321	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000164833

SMART Domains

Protein: ENSMUSP00000131785
Gene: ENSMUSG00000000568

Domain	Start	End	E-Value	Type
Blast:RRM	1	31	3e-13	BLAST
PDB:1X0F\|A	1	35	1e-17	PDB
SCOP:d1fj7a_	1	40	4e-4	SMART
low complexity region	46	61	N/A	INTRINSIC
low complexity region	67	116	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000168396
AA Change: *87L

SMART Domains

Protein: ENSMUSP00000131859
Gene: ENSMUSG00000000568
AA Change: *87L

Domain	Start	End	E-Value	Type
Pfam:CBFNT	1	79	2.2e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170654

Predicted Effect

probably benign
Transcript: ENSMUST00000170912

Predicted Effect

probably damaging
Transcript: ENSMUST00000172361
AA Change: L162F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000132735
Gene: ENSMUSG00000000568
AA Change: L162F

Domain	Start	End	E-Value	Type
Pfam:CBFNT	1	78	9.6e-16	PFAM
RRM	98	170	3.85e-25	SMART
RRM	183	255	7.76e-21	SMART
low complexity region	262	268	N/A	INTRINSIC
low complexity region	270	285	N/A	INTRINSIC
low complexity region	291	340	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000171640
AA Change: L6F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000127833
Gene: ENSMUSG00000000568
AA Change: L6F

Domain	Start	End	E-Value	Type
RRM	27	99	7.76e-21	SMART
low complexity region	106	112	N/A	INTRINSIC
low complexity region	114	133	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000171786
AA Change: L64F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000125984
Gene: ENSMUSG00000000568
AA Change: L64F

Domain	Start	End	E-Value	Type
RRM	1	72	8.44e-22	SMART
internal_repeat_1	86	107	2.75e-5	PROSPERO

Predicted Effect

unknown
Transcript: ENSMUST00000171106
AA Change: L71F

SMART Domains

Protein: ENSMUSP00000131262
Gene: ENSMUSG00000000568
AA Change: L71F

Domain	Start	End	E-Value	Type
RRM	8	80	3.85e-25	SMART
RRM	93	165	7.76e-21	SMART
low complexity region	172	178	N/A	INTRINSIC
low complexity region	180	199	N/A	INTRINSIC

Coding Region Coverage

1x: 99.5%
3x: 98.4%
10x: 95.6%
20x: 90.2%

Validation Efficiency

90% (36/40)

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 nucleic acid 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 localizes to both the nucleus and the cytoplasm. This protein is implicated in the regulation of mRNA stability. Alternative splicing of this gene results in four transcript variants. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in fetal growth retardation and decreased body weight. Mice show increased susceptibility to bacterial infection and endotoxin shock. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap13	T	C	7: 75,327,157 (GRCm39)	S719P	probably damaging	Het
Atxn2l	A	T	7: 126,096,466 (GRCm39)	N425K	probably benign	Het
B3galt4	G	A	17: 34,169,813 (GRCm39)	R142C	probably damaging	Het
Cacna2d2	T	C	9: 107,404,249 (GRCm39)		probably null	Het
Ccar2	A	G	14: 70,377,964 (GRCm39)	S674P	probably damaging	Het
Ccm2	T	A	11: 6,520,119 (GRCm39)	Y56*	probably null	Het
Cdc14b	A	T	13: 64,363,490 (GRCm39)	V257E	probably damaging	Het
Cdca8	A	C	4: 124,815,798 (GRCm39)	S171R	probably benign	Het
Cep192	C	T	18: 67,971,125 (GRCm39)	T1042I	probably benign	Het
Cfap100	T	A	6: 90,389,986 (GRCm39)	T101S	possibly damaging	Het
Cfap46	T	A	7: 139,222,513 (GRCm39)	M1155L	probably benign	Het
Cyp3a13	T	A	5: 137,892,626 (GRCm39)	I473F	possibly damaging	Het
Dclk3	A	G	9: 111,298,138 (GRCm39)	I561V	possibly damaging	Het
Dock6	A	T	9: 21,744,908 (GRCm39)	L556H	probably damaging	Het
Dqx1	G	A	6: 83,038,070 (GRCm39)	C486Y	probably damaging	Het
Drd1	T	A	13: 54,207,333 (GRCm39)	M294L	probably benign	Het
Dsel	A	G	1: 111,788,403 (GRCm39)	S711P	probably damaging	Het
Fcho2	A	T	13: 98,869,167 (GRCm39)	I568N	probably damaging	Het
Folr1	A	G	7: 101,507,810 (GRCm39)	M210T	probably damaging	Het
Gatc	T	A	5: 115,478,904 (GRCm39)		probably null	Het
Gja8	A	T	3: 96,826,740 (GRCm39)	F307L	probably benign	Het
H1f7	G	A	15: 98,154,636 (GRCm39)	T171I	unknown	Het
Hpd	C	T	5: 123,312,532 (GRCm39)	R279H	possibly damaging	Het
Igfals	G	A	17: 25,099,457 (GRCm39)	V183M	probably damaging	Het
Izumo1	A	G	7: 45,276,598 (GRCm39)	Y387C	probably benign	Het
Kdm5a	A	G	6: 120,375,999 (GRCm39)	N585S	probably null	Het
Marchf2	C	A	17: 33,928,762 (GRCm39)	G45C	probably damaging	Het
Myo15a	A	T	11: 60,370,442 (GRCm39)	R1067S	probably benign	Het
Naip2	T	C	13: 100,298,362 (GRCm39)	E558G	probably benign	Het
Naip2	C	T	13: 100,298,368 (GRCm39)	G556D	probably benign	Het
Nell1	A	G	7: 49,770,411 (GRCm39)	S157G	probably damaging	Het
Nf1	A	T	11: 79,437,859 (GRCm39)	E2072D	probably damaging	Het
Nipal1	CGGG	CGG	5: 72,825,334 (GRCm39)		probably null	Het
Nop2	T	A	6: 125,114,149 (GRCm39)	V205E	probably benign	Het
Nphs1	G	T	7: 30,173,702 (GRCm39)	S939I	probably damaging	Het
Nudt8	T	A	19: 4,051,925 (GRCm39)	W179R	probably damaging	Het
Nutm1	A	T	2: 112,080,274 (GRCm39)	I547N	probably benign	Het
Oog2	A	C	4: 143,922,856 (GRCm39)	T374P	probably damaging	Het
Or4k5	A	T	14: 50,385,384 (GRCm39)	F316I	probably benign	Het
Or8b54	C	A	9: 38,686,631 (GRCm39)	L27I	probably damaging	Het
Otud4	T	A	8: 80,390,722 (GRCm39)	M413K	probably benign	Het
Pear1	A	G	3: 87,667,606 (GRCm39)		probably benign	Het
Pla2g3	G	A	11: 3,438,551 (GRCm39)	C67Y	probably damaging	Het
Plxdc2	A	G	2: 16,716,917 (GRCm39)	T334A	probably benign	Het
Ppl	G	A	16: 4,917,864 (GRCm39)	R543W	probably damaging	Het
Prl5a1	G	A	13: 28,333,880 (GRCm39)	V128I	probably damaging	Het
Pth1r	A	T	9: 110,571,295 (GRCm39)	L25Q	probably damaging	Het
Pth1r	T	C	9: 110,558,689 (GRCm39)	D96G	probably benign	Het
Rfpl4	G	T	7: 5,113,517 (GRCm39)	D215E	probably damaging	Het
Rnf146	T	A	10: 29,223,092 (GRCm39)	R265*	probably null	Het
Rpe65	T	C	3: 159,312,122 (GRCm39)	I207T	probably benign	Het
Rptn	A	G	3: 93,305,532 (GRCm39)	E955G	possibly damaging	Het
Rwdd2b	A	T	16: 87,233,738 (GRCm39)	C121S	probably damaging	Het
Scn10a	A	G	9: 119,438,340 (GRCm39)	I1843T	probably damaging	Het
Sirt5	A	G	13: 43,524,245 (GRCm39)	I6V	probably benign	Het
Slc25a36	A	G	9: 96,961,254 (GRCm39)	Y261H	probably damaging	Het
Slc5a3	G	A	16: 91,874,383 (GRCm39)	A147T	probably damaging	Het
Stk39	T	C	2: 68,240,390 (GRCm39)	S114G	probably damaging	Het
Stxbp1	T	C	2: 32,704,979 (GRCm39)		probably null	Het
Syt3	G	T	7: 44,040,106 (GRCm39)	G113V	probably damaging	Het
Tatdn2	A	G	6: 113,686,506 (GRCm39)	T644A	probably damaging	Het
Trim9	T	A	12: 70,298,791 (GRCm39)		probably null	Het
Tut1	A	G	19: 8,936,719 (GRCm39)	N181S	probably benign	Het
Vill	T	C	9: 118,895,892 (GRCm39)	S151P	probably damaging	Het
Vmn2r90	A	T	17: 17,948,400 (GRCm39)	I549F	probably damaging	Het
Wdfy4	T	C	14: 32,801,923 (GRCm39)	T1912A	possibly damaging	Het

Other mutations in Hnrnpd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0066:Hnrnpd	UTSW	5	100,112,560 (GRCm39)	missense	probably damaging	1.00
R0066:Hnrnpd	UTSW	5	100,112,560 (GRCm39)	missense	probably damaging	1.00
R1022:Hnrnpd	UTSW	5	100,114,016 (GRCm39)	makesense	probably null
R6019:Hnrnpd	UTSW	5	100,115,095 (GRCm39)	missense	probably benign	0.00
R6502:Hnrnpd	UTSW	5	100,114,025 (GRCm39)	missense	probably damaging	1.00
R6785:Hnrnpd	UTSW	5	100,126,283 (GRCm39)	missense	probably benign	0.12
R6937:Hnrnpd	UTSW	5	100,111,629 (GRCm39)	missense	probably benign	0.08
R7080:Hnrnpd	UTSW	5	100,124,392 (GRCm39)	critical splice donor site	probably null
R7577:Hnrnpd	UTSW	5	100,115,113 (GRCm39)	missense	probably damaging	1.00
R8705:Hnrnpd	UTSW	5	100,111,588 (GRCm39)	critical splice donor site	probably benign

Predicted Primers

Posted On

2014-01-05