Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00095:Hnrnpul1'

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1524

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hnrnpul1

Ensembl Gene

ENSMUSG00000040725

Gene Name

heterogeneous nuclear ribonucleoprotein U-like 1

Synonyms

E1B-AP5, E130317O14Rik, E1BAP5, Hnrpul1, Hnrnpul

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.638) question?

Stock #

IGL00095

Quality Score

Status

Chromosome

Chromosomal Location

25721165-25754757 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 25726154 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 584 (Q584L)

Ref Sequence

ENSEMBL: ENSMUSP00000146263 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000043765
AA Change: Q484L

PolyPhen 2 Score 0.293 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000037268
Gene: ENSMUSG00000040725
AA Change: Q484L

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

possibly damaging
Transcript: ENSMUST00000206832
AA Change: Q584L

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)

Coding Region Coverage

Validation Efficiency

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cadm2	A	T	16: 66,882,751	Y65N	probably damaging	Het
Catsperg2	C	A	7: 29,698,058	C1042F	possibly damaging	Het
Cluh	T	C	11: 74,664,064	V776A	probably benign	Het
Crxos	T	A	7: 15,898,618	C116*	probably null	Het
Csmd1	A	G	8: 16,009,297		probably benign	Het
Cubn	C	A	2: 13,491,820		probably benign	Het
Exoc2	A	G	13: 30,820,626	I858T	probably benign	Het
Fam105a	A	G	15: 27,658,116	S273P	possibly damaging	Het
Frmpd1	C	A	4: 45,279,456	T727K	possibly damaging	Het
Gm3139	T	C	5: 94,537,804	L441P	probably damaging	Het
Hapln3	T	C	7: 79,121,983	T53A	probably damaging	Het
Ikbkb	A	T	8: 22,706,111	F26I	probably damaging	Het
Il31ra	A	T	13: 112,547,478	I120N	possibly damaging	Het
Itih1	C	T	14: 30,929,821	V855M	probably benign	Het
Krtap4-16	A	G	11: 99,851,206	S123P	possibly damaging	Het
Large1	C	T	8: 72,837,497	R547Q	probably damaging	Het
Madd	A	G	2: 91,175,766		probably benign	Het
Mark1	A	G	1: 184,898,603	V770A	probably damaging	Het
Mpeg1	T	C	19: 12,462,710	F511L	probably benign	Het
Mrgpra9	A	G	7: 47,235,091	V276A	possibly damaging	Het
Nav3	T	C	10: 109,841,733	T666A	probably damaging	Het
Ndufa8	T	C	2: 36,044,455	D37G	probably damaging	Het
Nlrx1	A	G	9: 44,253,279	L956P	probably damaging	Het
Nr5a1	T	C	2: 38,708,341	E148G	probably benign	Het
Olfr310	T	C	7: 86,269,669	N40S	probably damaging	Het
Olfr509	A	T	7: 108,645,836	F247I	possibly damaging	Het
Patj	A	C	4: 98,535,562	Q1184P	possibly damaging	Het
Phf20l1	A	G	15: 66,629,035	T619A	probably benign	Het
Pla2g6	T	C	15: 79,289,241	T643A	probably damaging	Het
Radil	A	G	5: 142,497,922	S510P	probably damaging	Het
Spock1	A	G	13: 57,587,739		probably benign	Het
Stag3	C	T	5: 138,299,138	T577M	probably damaging	Het
Tap2	C	T	17: 34,215,378	R613C	probably benign	Het
Tnn	A	G	1: 160,125,451	V673A	possibly damaging	Het
Trrap	T	C	5: 144,779,974		probably benign	Het
Vmn2r28	T	C	7: 5,488,069	D393G	probably benign	Het
Zbtb48	T	C	4: 152,021,394	H418R	probably damaging	Het
Zc3h12d	T	C	10: 7,862,467	V179A	probably damaging	Het

Other mutations in Hnrnpul1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R2679:Hnrnpul1	UTSW	7	25726875	missense	probably damaging	1.00
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
R8017:Hnrnpul1	UTSW	7	25748464	missense	probably benign	0.03
R8060:Hnrnpul1	UTSW	7	25748343	missense	possibly damaging	0.54
R8319:Hnrnpul1	UTSW	7	25754477	missense	probably benign
R8356:Hnrnpul1	UTSW	7	25722822	unclassified	probably benign
Z1176:Hnrnpul1	UTSW	7	25724664	missense	probably benign	0.23
Z1176:Hnrnpul1	UTSW	7	25724698	missense	unknown

Posted On

2011-07-12