Mutagenetix > Incidental Mutations

Incidental Mutation 'R2679:Hnrnpul1'

250757

Institutional Source

Beutler Lab

Gene Symbol

Hnrnpul1

Ensembl Gene

ENSMUSG00000040725

Gene Name

heterogeneous nuclear ribonucleoprotein U-like 1

Synonyms

E1B-AP5, E130317O14Rik, E1BAP5, Hnrpul1, Hnrnpul

MMRRC Submission

040432-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.652) question?

Stock #

R2679 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

25721165-25754757 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 25726875 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 517 (R517Q)

Ref Sequence

ENSEMBL: ENSMUSP00000146263 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043765] [ENSMUST00000206832]

Predicted Effect

probably damaging
Transcript: ENSMUST00000043765
AA Change: R417Q

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

SMART Domains

Protein: ENSMUSP00000037268
Gene: ENSMUSG00000040725
AA Change: R417Q

Domain	Start	End	E-Value	Type
SAP	3	37	2.86e-10	SMART
low complexity region	62	74	N/A	INTRINSIC
low complexity region	78	91	N/A	INTRINSIC
low complexity region	201	209	N/A	INTRINSIC
SPRY	255	388	8.49e-41	SMART
Pfam:AAA_33	424	569	1.4e-29	PFAM
low complexity region	613	626	N/A	INTRINSIC
low complexity region	631	693	N/A	INTRINSIC
low complexity region	695	718	N/A	INTRINSIC
low complexity region	745	765	N/A	INTRINSIC
low complexity region	768	859	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000206832
AA Change: R517Q

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

Meta Mutation Damage Score

0.6851

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

97% (67/69)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear RNA-binding protein of the heterogeneous nuclear ribonucleoprotein (hnRNP) family. This protein binds specifically to adenovirus early-1B-55kDa oncoprotein. It may play an important role in nucleocytoplasmic RNA transport, and its function is modulated by early-1B-55kDa in adenovirus-infected cells. [provided by RefSeq, Mar 2016]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asic2	A	G	11: 81,151,954	V171A	probably benign	Het
Atf7ip	A	T	6: 136,566,651	I641L	possibly damaging	Het
Atrn	G	A	2: 130,961,675		probably null	Het
Bpifb4	T	C	2: 153,948,624	I145T	probably damaging	Het
Bub3	A	G	7: 131,568,725		probably null	Het
Catsperb	T	A	12: 101,463,145	D192E	probably damaging	Het
Ccdc178	G	A	18: 21,811,556	H849Y	possibly damaging	Het
Cd101	G	T	3: 100,993,763	Q998K	probably benign	Het
Cep135	A	T	5: 76,624,660	M631L	probably benign	Het
Cit	T	C	5: 115,969,115	V1102A	probably benign	Het
Col4a4	G	A	1: 82,529,611	T249M	unknown	Het
Cpne6	A	T	14: 55,516,329	I415F	possibly damaging	Het
Cyp4b1	T	C	4: 115,628,697	I348V	probably benign	Het
Defb28	T	C	2: 152,518,282	S6P	possibly damaging	Het
Dhrs7b	A	G	11: 60,852,518		probably benign	Het
Dhx29	T	C	13: 112,947,376		probably null	Het
Egfem1	A	G	3: 29,670,676	T476A	probably benign	Het
Enpp5	A	G	17: 44,085,388	D397G	probably damaging	Het
Eogt	G	A	6: 97,120,800	T279I	probably benign	Het
Fnip2	G	A	3: 79,480,926	H833Y	probably benign	Het
Gabrr2	A	T	4: 33,071,435	T92S	probably damaging	Het
Gm10110	T	A	14: 89,897,416		noncoding transcript	Het
Gm4778	A	T	3: 94,265,910	Y75F	probably damaging	Het
Gria2	A	G	3: 80,740,953		probably benign	Het
Hmcn1	G	T	1: 150,652,575	T3274N	possibly damaging	Het
Hspa1b	T	C	17: 34,957,303	K569E	probably benign	Het
Ighv1-82	T	C	12: 115,952,752	Y46C	probably damaging	Het
Itga3	A	T	11: 95,068,310		probably benign	Het
Lrrc7	T	A	3: 158,175,108	R552*	probably null	Het
Med13	A	G	11: 86,298,577	S1169P	probably benign	Het
Muc4	T	A	16: 32,757,472	D2374E	unknown	Het
Myl9	T	A	2: 156,780,506	L70Q	probably damaging	Het
Nebl	C	T	2: 17,424,591	S243N	probably benign	Het
Nfat5	A	G	8: 107,344,914	Y314C	probably damaging	Het
Nr2f6	T	A	8: 71,374,736	D307V	probably damaging	Het
Nrp2	T	C	1: 62,785,078	S781P	probably benign	Het
Nub1	C	T	5: 24,692,925	T103I	possibly damaging	Het
Olfr32	A	T	2: 90,138,545	V198D	possibly damaging	Het
Olfr572	T	A	7: 102,928,031	Y134*	probably null	Het
Pex5l	A	T	3: 33,082,052	M6K	probably benign	Het
Pgm3	A	C	9: 86,569,321	C93W	probably benign	Het
Pkhd1	A	G	1: 20,209,182	S2971P	probably benign	Het
Pkhd1l1	T	C	15: 44,545,386	L2423P	probably damaging	Het
Prkce	A	G	17: 86,176,226		probably benign	Het
Ptbp3	A	G	4: 59,494,615		probably benign	Het
Ptgis	T	A	2: 167,208,193	M339L	probably benign	Het
Pxdn	T	C	12: 29,975,569		probably benign	Het
Rab44	T	A	17: 29,144,477		probably null	Het
Ric1	A	G	19: 29,604,030	S1275G	probably benign	Het
Rnf213	C	A	11: 119,459,938		probably null	Het
Rtn4rl1	A	T	11: 75,265,726	E328V	probably benign	Het
Saraf	C	T	8: 34,165,274	T169I	probably damaging	Het
Sbk2	T	A	7: 4,957,120		probably null	Het
Setd1a	T	G	7: 127,795,724		probably benign	Het
Sit1	A	G	4: 43,483,157	Y73H	probably damaging	Het
Slc44a4	T	C	17: 34,923,423		probably benign	Het
Tas2r125	A	G	6: 132,910,227	T193A	probably benign	Het
Tbc1d9b	T	A	11: 50,161,701		probably null	Het
Tcf7l1	G	T	6: 72,627,420	H580Q	probably benign	Het
Tead1	T	G	7: 112,856,846	S115A	probably damaging	Het
Top2b	G	A	14: 16,413,947	G29D	probably damaging	Het
Trpv4	A	T	5: 114,635,552	C250S	probably damaging	Het
U2surp	A	C	9: 95,476,232	I655S	possibly damaging	Het
Ube2a	G	A	X: 36,874,707		probably benign	Het
Ubl7	A	G	9: 57,914,599	D77G	probably damaging	Het
Vmn1r91	T	C	7: 20,102,058	C301R	probably damaging	Het
Vmn2r90	A	T	17: 17,712,869	R230S	possibly damaging	Het
Wdfy3	T	A	5: 101,870,036	E2560V	probably damaging	Het
Zfp273	C	T	13: 67,825,776	A341V	probably benign	Het
Zfp512	C	T	5: 31,465,454	A33V	probably benign	Het

Other mutations in Hnrnpul1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00095:Hnrnpul1	APN	7	25726154	missense	possibly damaging	0.74
IGL01287:Hnrnpul1	APN	7	25726898	missense	probably damaging	1.00
IGL01409:Hnrnpul1	APN	7	25724652	missense	unknown
IGL02026:Hnrnpul1	APN	7	25745162	missense	probably damaging	0.99
IGL02073:Hnrnpul1	APN	7	25722341	unclassified	probably benign
IGL02474:Hnrnpul1	APN	7	25726757	missense	probably benign	0.02
IGL02839:Hnrnpul1	APN	7	25733242	critical splice donor site	probably null
IGL02894:Hnrnpul1	APN	7	25750904	missense	possibly damaging	0.70
IGL03382:Hnrnpul1	APN	7	25750984	start codon destroyed	probably null	0.53
R0011:Hnrnpul1	UTSW	7	25742915	splice site	probably benign
R0525:Hnrnpul1	UTSW	7	25740883	missense	possibly damaging	0.72
R0587:Hnrnpul1	UTSW	7	25745232	missense	possibly damaging	0.70
R1121:Hnrnpul1	UTSW	7	25740907	missense	possibly damaging	0.68
R1313:Hnrnpul1	UTSW	7	25722916	unclassified	probably benign
R1313:Hnrnpul1	UTSW	7	25722916	unclassified	probably benign
R1880:Hnrnpul1	UTSW	7	25733098	missense	possibly damaging	0.95
R1892:Hnrnpul1	UTSW	7	25726766	missense	probably benign	0.11
R2113:Hnrnpul1	UTSW	7	25733269	missense	possibly damaging	0.47
R2194:Hnrnpul1	UTSW	7	25725922	critical splice donor site	probably null
R2269:Hnrnpul1	UTSW	7	25750874	missense	probably damaging	0.98
R3079:Hnrnpul1	UTSW	7	25733115	nonsense	probably null
R3917:Hnrnpul1	UTSW	7	25726875	missense	probably damaging	1.00
R4077:Hnrnpul1	UTSW	7	25726875	missense	probably damaging	1.00
R4079:Hnrnpul1	UTSW	7	25726875	missense	probably damaging	1.00
R4181:Hnrnpul1	UTSW	7	25726812	missense	probably damaging	0.98
R4449:Hnrnpul1	UTSW	7	25722284	unclassified	probably benign
R4707:Hnrnpul1	UTSW	7	25726833	missense	probably damaging	1.00
R4764:Hnrnpul1	UTSW	7	25743011	missense	probably benign	0.00
R5040:Hnrnpul1	UTSW	7	25742989	missense	possibly damaging	0.86
R5131:Hnrnpul1	UTSW	7	25726794	missense	probably benign	0.08
R5224:Hnrnpul1	UTSW	7	25745175	missense	probably damaging	0.98
R5599:Hnrnpul1	UTSW	7	25754672	start gained	probably benign
R5975:Hnrnpul1	UTSW	7	25754359	missense	possibly damaging	0.93
R7032:Hnrnpul1	UTSW	7	25750894	missense	probably benign	0.11
R7195:Hnrnpul1	UTSW	7	25724778	missense	unknown
R7231:Hnrnpul1	UTSW	7	25748417	nonsense	probably null
R7667:Hnrnpul1	UTSW	7	25754421	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GATGCTGTTAAAATGGCCCC -3'
(R):5'- ATTGGGAGCCAACCTCTTTG -3'

Sequencing Primer
(F):5'- GCTGTTAAAATGGCCCCCAACC -3'
(R):5'- CATTTGCTTAGATGGACATGAGTTC -3'

Posted On

2014-12-04