Mutagenetix > Incidental Mutation

Incidental Mutation 'R5975:Hnrnpul1'

471681

Institutional Source

Beutler Lab

Gene Symbol

Hnrnpul1

Ensembl Gene

ENSMUSG00000040725

Gene Name

heterogeneous nuclear ribonucleoprotein U-like 1

Synonyms

E130317O14Rik, Hnrpul1, Hnrnpul, E1B-AP5, E1BAP5

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.663) question?

Stock #

R5975 (G1)

Quality Score

141

Status

Validated

Chromosome

Chromosomal Location

25420590-25454182 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25453784 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 93 (S93P)

Ref Sequence

ENSEMBL: ENSMUSP00000146263 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002677] [ENSMUST00000043765] [ENSMUST00000085948] [ENSMUST00000108401] [ENSMUST00000206832]

AlphaFold

Q8VDM6

Predicted Effect

probably benign
Transcript: ENSMUST00000002677

SMART Domains

Protein: ENSMUSP00000002677
Gene: ENSMUSG00000002602

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IG	35	124	5.53e-6	SMART
IG	139	218	9.06e-2	SMART
FN3	219	312	9.25e-6	SMART
FN3	328	409	2.18e-2	SMART
transmembrane domain	444	466	N/A	INTRINSIC
low complexity region	489	501	N/A	INTRINSIC
TyrKc	530	797	1.91e-134	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000043765

SMART Domains

Protein: ENSMUSP00000037268
Gene: ENSMUSG00000040725

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 benign
Transcript: ENSMUST00000085948

SMART Domains

Protein: ENSMUSP00000083110
Gene: ENSMUSG00000002602

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IG	35	124	5.53e-6	SMART
IG	139	218	9.06e-2	SMART
FN3	219	312	9.25e-6	SMART
FN3	328	409	2.18e-2	SMART
transmembrane domain	435	457	N/A	INTRINSIC
low complexity region	480	492	N/A	INTRINSIC
TyrKc	521	788	1.91e-134	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108401
AA Change: S93P

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000104038
Gene: ENSMUSG00000040725
AA Change: S93P

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
Pfam:SPRY	255	338	2e-13	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000206832
AA Change: S93P

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

Meta Mutation Damage Score

0.0710

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.3%

Validation Efficiency

98% (80/82)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430038I01Rik	T	C	7: 136,989,021 (GRCm39)		probably benign	Het
Abhd14a	A	T	9: 106,321,150 (GRCm39)		probably null	Het
Actn2	T	C	13: 12,355,378 (GRCm39)	N2D	probably benign	Het
Adcy9	T	C	16: 4,129,431 (GRCm39)	E722G	probably damaging	Het
Alox12	C	A	11: 70,133,609 (GRCm39)	V572L	possibly damaging	Het
Ankrd11	T	C	8: 123,616,488 (GRCm39)	I2434V	possibly damaging	Het
Anks1	T	A	17: 28,210,421 (GRCm39)		probably null	Het
Bltp1	C	T	3: 37,023,370 (GRCm39)	T2233I	possibly damaging	Het
Bpifa3	T	A	2: 153,978,241 (GRCm39)	S148T	probably damaging	Het
Bptf	C	T	11: 106,926,690 (GRCm39)		probably benign	Het
Cabin1	A	T	10: 75,493,673 (GRCm39)	L1655H	probably damaging	Het
Ccdc13	G	T	9: 121,656,301 (GRCm39)	Q171K	probably benign	Het
Ccdc33	T	A	9: 58,024,761 (GRCm39)	Q155L	possibly damaging	Het
Cckbr	G	A	7: 105,119,826 (GRCm39)	G280E	probably benign	Het
Cdk11b	G	A	4: 155,732,697 (GRCm39)		probably benign	Het
Celsr1	G	T	15: 85,803,239 (GRCm39)		probably null	Het
Cenpj	A	T	14: 56,801,523 (GRCm39)	I150N	possibly damaging	Het
Cep135	C	A	5: 76,788,737 (GRCm39)	A1110E	possibly damaging	Het
Chit1	C	A	1: 134,074,364 (GRCm39)	H224N	probably damaging	Het
Cul5	T	C	9: 53,534,093 (GRCm39)	R680G	probably damaging	Het
Dhx58	C	A	11: 100,593,035 (GRCm39)	R224L	probably damaging	Het
Dlx1	C	A	2: 71,361,353 (GRCm39)	N122K	probably damaging	Het
Dnah5	A	C	15: 28,234,428 (GRCm39)	D279A	probably damaging	Het
Dnai4	G	A	4: 102,906,786 (GRCm39)	P676S	probably benign	Het
Efcab3	A	G	11: 104,578,375 (GRCm39)		probably benign	Het
Enpp3	A	G	10: 24,650,740 (GRCm39)	W799R	probably benign	Het
Ercc5	A	G	1: 44,212,566 (GRCm39)	T675A	probably benign	Het
Farsa	T	A	8: 85,591,061 (GRCm39)		probably null	Het
Fbxw15	A	T	9: 109,384,320 (GRCm39)	V397D	probably damaging	Het
Fcrl5	G	A	3: 87,349,410 (GRCm39)	V62I	probably benign	Het
Gart	A	G	16: 91,421,224 (GRCm39)	S815P	probably damaging	Het
Glrx5	A	G	12: 105,006,582 (GRCm39)	N111S	possibly damaging	Het
Gm10845	A	G	14: 80,100,614 (GRCm39)		noncoding transcript	Het
Gm9925	T	A	18: 74,198,587 (GRCm39)		probably benign	Het
Gsdme	T	C	6: 50,204,339 (GRCm39)	N206S	probably benign	Het
Helz2	T	C	2: 180,872,843 (GRCm39)	S2459G	probably benign	Het
Ints2	A	T	11: 86,117,574 (GRCm39)	I716N	possibly damaging	Het
Lmnb2	G	A	10: 80,740,962 (GRCm39)	Q248*	probably null	Het
Map3k7cl	A	G	16: 87,367,209 (GRCm39)	I32V	probably benign	Het
Mfsd4b4	A	T	10: 39,768,466 (GRCm39)	I255N	probably benign	Het
Myh6	A	G	14: 55,187,965 (GRCm39)	I1163T	probably benign	Het
Nphs1	A	T	7: 30,165,540 (GRCm39)	T636S	possibly damaging	Het
Ntsr1	T	A	2: 180,142,581 (GRCm39)	L124Q	probably damaging	Het
Obscn	C	T	11: 59,013,445 (GRCm39)		probably null	Het
P4ha2	G	A	11: 54,017,238 (GRCm39)		probably null	Het
Pcdha9	T	A	18: 37,132,164 (GRCm39)	V411D	probably benign	Het
Pkhd1l1	A	T	15: 44,389,384 (GRCm39)	I1380F	probably damaging	Het
Plekha1	T	C	7: 130,493,983 (GRCm39)	V106A	probably benign	Het
Plekhm1	A	T	11: 103,267,517 (GRCm39)	V818E	possibly damaging	Het
Pprc1	T	G	19: 46,053,809 (GRCm39)		probably benign	Het
Prb1c	A	G	6: 132,339,036 (GRCm39)	S61P	unknown	Het
Prmt9	T	C	8: 78,287,647 (GRCm39)		probably benign	Het
Rab26	T	C	17: 24,749,373 (GRCm39)	N193D	possibly damaging	Het
Rnf111	A	G	9: 70,336,862 (GRCm39)	S942P	probably damaging	Het
Scgb2b18	T	C	7: 32,872,650 (GRCm39)	T52A	probably damaging	Het
Syt3	C	T	7: 44,042,187 (GRCm39)	Q349*	probably null	Het
Tas2r107	T	C	6: 131,636,743 (GRCm39)	N102S	probably benign	Het
Tas2r126	T	A	6: 42,411,934 (GRCm39)	Y156N	possibly damaging	Het
Tcaf2	A	T	6: 42,619,712 (GRCm39)	I105N	probably benign	Het
Tet1	A	C	10: 62,715,552 (GRCm39)	M81R	probably benign	Het
Togaram2	T	C	17: 72,036,200 (GRCm39)	Y897H	probably damaging	Het
Trerf1	A	T	17: 47,625,197 (GRCm39)		noncoding transcript	Het
Ttn	G	A	2: 76,591,579 (GRCm39)	T12703I	probably damaging	Het
Unc79	A	G	12: 103,091,885 (GRCm39)	K1735E	possibly damaging	Het
Usp54	G	A	14: 20,633,419 (GRCm39)	T372I	possibly damaging	Het
Wdr24	T	C	17: 26,046,102 (GRCm39)	S476P	probably benign	Het
Zbtb1	T	C	12: 76,433,049 (GRCm39)	I345T	possibly damaging	Het
Zcrb1	T	A	15: 93,293,496 (GRCm39)	I29L	probably benign	Het
Zfp341	T	A	2: 154,472,361 (GRCm39)	C315S	probably damaging	Het
Zfp623	C	A	15: 75,820,012 (GRCm39)	R323S	probably benign	Het
Zfp831	T	A	2: 174,485,885 (GRCm39)	Y187N	possibly damaging	Het

Other mutations in Hnrnpul1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00095:Hnrnpul1	APN	7	25,425,579 (GRCm39)	missense	possibly damaging	0.74
IGL01287:Hnrnpul1	APN	7	25,426,323 (GRCm39)	missense	probably damaging	1.00
IGL01409:Hnrnpul1	APN	7	25,424,077 (GRCm39)	missense	unknown
IGL02026:Hnrnpul1	APN	7	25,444,587 (GRCm39)	missense	probably damaging	0.99
IGL02073:Hnrnpul1	APN	7	25,421,766 (GRCm39)	unclassified	probably benign
IGL02474:Hnrnpul1	APN	7	25,426,182 (GRCm39)	missense	probably benign	0.02
IGL02839:Hnrnpul1	APN	7	25,432,667 (GRCm39)	critical splice donor site	probably null
IGL02894:Hnrnpul1	APN	7	25,450,329 (GRCm39)	missense	possibly damaging	0.70
IGL03382:Hnrnpul1	APN	7	25,450,409 (GRCm39)	start codon destroyed	probably null	0.53
R0011:Hnrnpul1	UTSW	7	25,442,340 (GRCm39)	splice site	probably benign
R0525:Hnrnpul1	UTSW	7	25,440,308 (GRCm39)	missense	possibly damaging	0.72
R0587:Hnrnpul1	UTSW	7	25,444,657 (GRCm39)	missense	possibly damaging	0.70
R1121:Hnrnpul1	UTSW	7	25,440,332 (GRCm39)	missense	possibly damaging	0.68
R1313:Hnrnpul1	UTSW	7	25,422,341 (GRCm39)	unclassified	probably benign
R1313:Hnrnpul1	UTSW	7	25,422,341 (GRCm39)	unclassified	probably benign
R1880:Hnrnpul1	UTSW	7	25,432,523 (GRCm39)	missense	possibly damaging	0.95
R1892:Hnrnpul1	UTSW	7	25,426,191 (GRCm39)	missense	probably benign	0.11
R2113:Hnrnpul1	UTSW	7	25,432,694 (GRCm39)	missense	possibly damaging	0.47
R2194:Hnrnpul1	UTSW	7	25,425,347 (GRCm39)	critical splice donor site	probably null
R2269:Hnrnpul1	UTSW	7	25,450,299 (GRCm39)	missense	probably damaging	0.98
R2679:Hnrnpul1	UTSW	7	25,426,300 (GRCm39)	missense	probably damaging	1.00
R3079:Hnrnpul1	UTSW	7	25,432,540 (GRCm39)	nonsense	probably null
R3917:Hnrnpul1	UTSW	7	25,426,300 (GRCm39)	missense	probably damaging	1.00
R4077:Hnrnpul1	UTSW	7	25,426,300 (GRCm39)	missense	probably damaging	1.00
R4079:Hnrnpul1	UTSW	7	25,426,300 (GRCm39)	missense	probably damaging	1.00
R4181:Hnrnpul1	UTSW	7	25,426,237 (GRCm39)	missense	probably damaging	0.98
R4449:Hnrnpul1	UTSW	7	25,421,709 (GRCm39)	unclassified	probably benign
R4707:Hnrnpul1	UTSW	7	25,426,258 (GRCm39)	missense	probably damaging	1.00
R4764:Hnrnpul1	UTSW	7	25,442,436 (GRCm39)	missense	probably benign	0.00
R5040:Hnrnpul1	UTSW	7	25,442,414 (GRCm39)	missense	possibly damaging	0.86
R5131:Hnrnpul1	UTSW	7	25,426,219 (GRCm39)	missense	probably benign	0.08
R5224:Hnrnpul1	UTSW	7	25,444,600 (GRCm39)	missense	probably damaging	0.98
R5599:Hnrnpul1	UTSW	7	25,454,097 (GRCm39)	start gained	probably benign
R7032:Hnrnpul1	UTSW	7	25,450,319 (GRCm39)	missense	probably benign	0.11
R7195:Hnrnpul1	UTSW	7	25,424,203 (GRCm39)	missense	unknown
R7231:Hnrnpul1	UTSW	7	25,447,842 (GRCm39)	nonsense	probably null
R7667:Hnrnpul1	UTSW	7	25,453,846 (GRCm39)	missense	probably damaging	0.99
R8017:Hnrnpul1	UTSW	7	25,447,889 (GRCm39)	missense	probably benign	0.03
R8060:Hnrnpul1	UTSW	7	25,447,768 (GRCm39)	missense	possibly damaging	0.54
R8319:Hnrnpul1	UTSW	7	25,453,902 (GRCm39)	missense	probably benign
R8356:Hnrnpul1	UTSW	7	25,422,247 (GRCm39)	unclassified	probably benign
Z1176:Hnrnpul1	UTSW	7	25,424,123 (GRCm39)	missense	unknown
Z1176:Hnrnpul1	UTSW	7	25,424,089 (GRCm39)	missense	probably benign	0.23

Predicted Primers

PCR Primer
(F):5'- TGGCCGCAGATCCTTTACAAC -3'
(R):5'- CCTGACAGGCAAGGTTTAGG -3'

Sequencing Primer
(F):5'- ATCCTTTACAACGGCAGGTG -3'
(R):5'- GCCTGAAGGTGAACGAACTTC -3'

Posted On

2017-03-31