Mutagenetix > Incidental Mutation

Incidental Mutation 'R7463:Hjurp'

578539

Institutional Source

Beutler Lab

Gene Symbol

Hjurp

Ensembl Gene

ENSMUSG00000044783

Gene Name

Holliday junction recognition protein

Synonyms

A730008H23Rik, C330011F01Rik, 6430706D22Rik

MMRRC Submission

045537-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.915) question?

Stock #

R7463 (G1)

Quality Score

217.468

Status

Validated

Chromosome

Chromosomal Location

88190193-88205355 bp(-) (GRCm39)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT to C at 88193999 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000120753 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054674] [ENSMUST00000061013] [ENSMUST00000065420] [ENSMUST00000113130] [ENSMUST00000127446] [ENSMUST00000147393]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000054674

SMART Domains

Protein: ENSMUSP00000054263
Gene: ENSMUSG00000044783

Domain	Start	End	E-Value	Type
Pfam:Scm3	11	68	1.5e-10	PFAM
low complexity region	159	175	N/A	INTRINSIC
low complexity region	215	232	N/A	INTRINSIC
Pfam:HJURP_mid	254	370	7.6e-54	PFAM
Pfam:HJURP_C	385	446	3.1e-26	PFAM
low complexity region	496	515	N/A	INTRINSIC
Pfam:HJURP_C	527	585	7.1e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000061013

SMART Domains

Protein: ENSMUSP00000130508
Gene: ENSMUSG00000079429

Domain	Start	End	E-Value	Type
low complexity region	9	26	N/A	INTRINSIC
low complexity region	99	112	N/A	INTRINSIC
low complexity region	1235	1248	N/A	INTRINSIC
SCOP:d1jdha_	1371	1669	9e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000065420

SMART Domains

Protein: ENSMUSP00000070419
Gene: ENSMUSG00000044783

Domain	Start	End	E-Value	Type
Pfam:Scm3	9	70	2.9e-11	PFAM
low complexity region	83	99	N/A	INTRINSIC
low complexity region	139	156	N/A	INTRINSIC
Pfam:HJURP_mid	178	295	7.4e-64	PFAM
Pfam:HJURP_C	309	371	1.2e-26	PFAM
low complexity region	420	439	N/A	INTRINSIC
Pfam:HJURP_C	451	510	3e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113130

SMART Domains

Protein: ENSMUSP00000108755
Gene: ENSMUSG00000079429

Domain	Start	End	E-Value	Type
low complexity region	9	26	N/A	INTRINSIC
low complexity region	99	112	N/A	INTRINSIC
low complexity region	1232	1245	N/A	INTRINSIC
SCOP:d1gw5a_	1446	1671	6e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000127446

Predicted Effect

probably benign
Transcript: ENSMUST00000147393

SMART Domains

Protein: ENSMUSP00000120753
Gene: ENSMUSG00000044783

Domain	Start	End	E-Value	Type
Pfam:Scm3	9	70	7.2e-13	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.7%

Validation Efficiency

100% (62/62)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	A	T	17: 46,634,698 (GRCm39)	V435E	probably damaging	Het
Acta2	G	A	19: 34,229,931 (GRCm39)	T8I	probably benign	Het
Adcy2	T	C	13: 68,878,399 (GRCm39)	D413G	probably damaging	Het
Adgrg6	T	A	10: 14,310,140 (GRCm39)	D727V	possibly damaging	Het
Aebp2	C	T	6: 140,583,452 (GRCm39)	Q309*	probably null	Het
Amy1	A	T	3: 113,363,533 (GRCm39)	C43*	probably null	Het
Bpifc	T	C	10: 85,815,198 (GRCm39)	E256G	probably benign	Het
Bysl	A	T	17: 47,913,396 (GRCm39)	S296T	probably benign	Het
Carmil3	C	T	14: 55,739,853 (GRCm39)	P980L	probably damaging	Het
Coch	T	A	12: 51,640,408 (GRCm39)	M1K	probably null	Het
Cpt2	A	T	4: 107,765,354 (GRCm39)	F137I	probably damaging	Het
Crem	T	C	18: 3,295,094 (GRCm39)	I112V	probably benign	Het
Cul9	A	G	17: 46,831,402 (GRCm39)		probably null	Het
Cyp3a41a	T	A	5: 145,650,374 (GRCm39)	I90F	probably damaging	Het
Cyp4f16	C	T	17: 32,769,761 (GRCm39)	A457V	possibly damaging	Het
Ddx6	A	G	9: 44,540,026 (GRCm39)	E318G	probably damaging	Het
Dip2b	A	G	15: 100,052,038 (GRCm39)	E213G	probably benign	Het
Dlx5	T	C	6: 6,878,316 (GRCm39)	H238R	probably damaging	Het
Dnai2	A	C	11: 114,645,232 (GRCm39)	I556L	probably benign	Het
Dnmt1	C	T	9: 20,823,521 (GRCm39)	V1147M	possibly damaging	Het
Egf	G	T	3: 129,533,664 (GRCm39)	Q59K	probably benign	Het
Ermp1	A	T	19: 29,623,662 (GRCm39)	Y109*	probably null	Het
Fer1l6	T	A	15: 58,445,450 (GRCm39)	Y573*	probably null	Het
Fmnl1	T	C	11: 103,083,954 (GRCm39)	L503P	probably damaging	Het
Gnptab	T	G	10: 88,267,251 (GRCm39)	I447M	probably damaging	Het
Hgf	G	A	5: 16,783,448 (GRCm39)	D253N	probably benign	Het
Igf2r	T	C	17: 12,929,532 (GRCm39)	T958A	probably benign	Het
Kcnd2	T	A	6: 21,216,497 (GRCm39)	L67Q	probably damaging	Het
Kif5a	A	G	10: 127,079,593 (GRCm39)	V248A	probably damaging	Het
Krt33b	A	G	11: 99,920,389 (GRCm39)	I88T	probably damaging	Het
Lhx2	G	A	2: 38,241,858 (GRCm39)	E25K	possibly damaging	Het
Mex3d	C	T	10: 80,217,532 (GRCm39)	G562R		Het
Myom2	A	T	8: 15,167,679 (GRCm39)	Y1088F	probably null	Het
Ncapg	T	A	5: 45,851,434 (GRCm39)		probably null	Het
Nudc	A	C	4: 133,261,714 (GRCm39)	V190G	possibly damaging	Het
Obscn	G	T	11: 59,013,686 (GRCm39)	R1054S	probably benign	Het
Or10g1	A	G	14: 52,648,168 (GRCm39)	W54R	probably benign	Het
Or10g9	A	G	9: 39,911,860 (GRCm39)	V221A	probably benign	Het
Or2d4	A	T	7: 106,543,380 (GRCm39)	V276E	probably damaging	Het
Or52h9	T	C	7: 104,202,689 (GRCm39)	S188P	possibly damaging	Het
Or56a5	T	A	7: 104,793,144 (GRCm39)	M119L	probably benign	Het
Or8j3	T	C	2: 86,028,182 (GRCm39)	M305V	probably benign	Het
Pcdh10	A	T	3: 45,338,007 (GRCm39)	R891S	possibly damaging	Het
Pcdh15	C	T	10: 74,467,602 (GRCm39)	S1873L	possibly damaging	Het
Pcdh7	A	G	5: 57,878,340 (GRCm39)	K632E	probably benign	Het
Pcdhgb8	G	A	18: 37,896,480 (GRCm39)	A517T	probably damaging	Het
Ptgr2	A	T	12: 84,339,072 (GRCm39)		probably benign	Het
Ptpn18	G	A	1: 34,512,445 (GRCm39)	D417N	possibly damaging	Het
Racgap1	T	A	15: 99,540,839 (GRCm39)	T4S	probably benign	Het
Rb1cc1	A	G	1: 6,319,404 (GRCm39)	H941R	probably benign	Het
Reln	T	C	5: 22,308,433 (GRCm39)	H312R	probably damaging	Het
Rnf166	T	A	8: 123,194,726 (GRCm39)	H208L	probably damaging	Het
Spmap2	T	C	10: 79,412,549 (GRCm39)	E314G	probably damaging	Het
Timeless	T	C	10: 128,086,295 (GRCm39)	S999P	probably benign	Het
Tmem94	G	T	11: 115,677,082 (GRCm39)	R118L	possibly damaging	Het
Tor1aip1	A	T	1: 155,883,355 (GRCm39)	H349Q	possibly damaging	Het
Ttn	T	A	2: 76,750,804 (GRCm39)	E3415V	probably benign	Het
Vmn2r102	A	T	17: 19,896,886 (GRCm39)	N78Y	probably damaging	Het
Wdr11	A	T	7: 129,208,810 (GRCm39)	D427V	probably damaging	Het
Zer1	A	T	2: 30,003,449 (GRCm39)		probably benign	Het
Zfp516	T	A	18: 82,975,233 (GRCm39)	M477K	probably benign	Het

Other mutations in Hjurp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00990:Hjurp	APN	1	88,197,991 (GRCm39)	missense	probably benign	0.04
IGL03099:Hjurp	APN	1	88,194,011 (GRCm39)	missense	probably benign	0.09
BB003:Hjurp	UTSW	1	88,194,000 (GRCm39)	utr 3 prime	probably benign
IGL03097:Hjurp	UTSW	1	88,194,002 (GRCm39)	utr 3 prime	probably benign
IGL03098:Hjurp	UTSW	1	88,194,002 (GRCm39)	utr 3 prime	probably benign
IGL03147:Hjurp	UTSW	1	88,194,002 (GRCm39)	utr 3 prime	probably benign
PIT4131001:Hjurp	UTSW	1	88,194,000 (GRCm39)	utr 3 prime	probably benign
PIT4142001:Hjurp	UTSW	1	88,194,000 (GRCm39)	utr 3 prime	probably benign
PIT4142001:Hjurp	UTSW	1	88,193,768 (GRCm39)	missense	probably damaging	0.98
PIT4142001:Hjurp	UTSW	1	88,194,338 (GRCm39)	missense	probably benign	0.04
PIT4142001:Hjurp	UTSW	1	88,194,283 (GRCm39)	utr 3 prime	probably benign
PIT4378001:Hjurp	UTSW	1	88,193,999 (GRCm39)	utr 3 prime	probably benign
PIT4812001:Hjurp	UTSW	1	88,193,999 (GRCm39)	utr 3 prime	probably benign
R0053:Hjurp	UTSW	1	88,204,937 (GRCm39)	splice site	probably benign
R0371:Hjurp	UTSW	1	88,205,090 (GRCm39)	splice site	probably benign
R0442:Hjurp	UTSW	1	88,194,246 (GRCm39)	nonsense	probably null
R0762:Hjurp	UTSW	1	88,204,937 (GRCm39)	splice site	probably benign
R0928:Hjurp	UTSW	1	88,194,246 (GRCm39)	nonsense	probably null
R1333:Hjurp	UTSW	1	88,193,768 (GRCm39)	missense	probably damaging	0.98
R1342:Hjurp	UTSW	1	88,205,090 (GRCm39)	splice site	probably benign
R1364:Hjurp	UTSW	1	88,194,247 (GRCm39)	frame shift	probably null
R1496:Hjurp	UTSW	1	88,202,772 (GRCm39)	missense	possibly damaging	0.59
R1637:Hjurp	UTSW	1	88,193,843 (GRCm39)	missense	probably benign	0.03
R1905:Hjurp	UTSW	1	88,194,338 (GRCm39)	missense	probably benign	0.04
R1965:Hjurp	UTSW	1	88,194,246 (GRCm39)	nonsense	probably null
R1992:Hjurp	UTSW	1	88,194,246 (GRCm39)	nonsense	probably null
R2002:Hjurp	UTSW	1	88,194,246 (GRCm39)	nonsense	probably null
R2023:Hjurp	UTSW	1	88,194,246 (GRCm39)	nonsense	probably null
R2024:Hjurp	UTSW	1	88,194,246 (GRCm39)	nonsense	probably null
R2332:Hjurp	UTSW	1	88,204,937 (GRCm39)	splice site	probably benign
R2420:Hjurp	UTSW	1	88,194,246 (GRCm39)	nonsense	probably null
R2422:Hjurp	UTSW	1	88,194,283 (GRCm39)	utr 3 prime	probably benign
R2869:Hjurp	UTSW	1	88,194,246 (GRCm39)	nonsense	probably null
R2870:Hjurp	UTSW	1	88,194,246 (GRCm39)	nonsense	probably null
R2871:Hjurp	UTSW	1	88,194,246 (GRCm39)	nonsense	probably null
R2872:Hjurp	UTSW	1	88,194,246 (GRCm39)	nonsense	probably null
R3019:Hjurp	UTSW	1	88,194,246 (GRCm39)	nonsense	probably null
R3021:Hjurp	UTSW	1	88,194,246 (GRCm39)	nonsense	probably null
R3150:Hjurp	UTSW	1	88,194,283 (GRCm39)	utr 3 prime	probably benign
R3411:Hjurp	UTSW	1	88,194,246 (GRCm39)	nonsense	probably null
R3552:Hjurp	UTSW	1	88,194,246 (GRCm39)	nonsense	probably null
R3704:Hjurp	UTSW	1	88,204,937 (GRCm39)	splice site	probably benign
R3730:Hjurp	UTSW	1	88,194,246 (GRCm39)	nonsense	probably null
R3733:Hjurp	UTSW	1	88,194,246 (GRCm39)	nonsense	probably null
R3764:Hjurp	UTSW	1	88,194,246 (GRCm39)	nonsense	probably null
R3799:Hjurp	UTSW	1	88,204,937 (GRCm39)	splice site	probably benign
R3819:Hjurp	UTSW	1	88,204,937 (GRCm39)	splice site	probably benign
R3857:Hjurp	UTSW	1	88,194,246 (GRCm39)	nonsense	probably null
R3930:Hjurp	UTSW	1	88,194,246 (GRCm39)	nonsense	probably null
R3952:Hjurp	UTSW	1	88,204,937 (GRCm39)	splice site	probably benign
R4090:Hjurp	UTSW	1	88,204,937 (GRCm39)	splice site	probably benign
R4159:Hjurp	UTSW	1	88,204,937 (GRCm39)	splice site	probably benign
R4207:Hjurp	UTSW	1	88,204,937 (GRCm39)	splice site	probably benign
R4322:Hjurp	UTSW	1	88,204,937 (GRCm39)	splice site	probably benign
R4391:Hjurp	UTSW	1	88,194,283 (GRCm39)	utr 3 prime	probably benign
R4392:Hjurp	UTSW	1	88,194,246 (GRCm39)	nonsense	probably null
R4393:Hjurp	UTSW	1	88,194,246 (GRCm39)	nonsense	probably null
R4393:Hjurp	UTSW	1	88,194,283 (GRCm39)	utr 3 prime	probably benign
R4397:Hjurp	UTSW	1	88,194,246 (GRCm39)	nonsense	probably null
R4700:Hjurp	UTSW	1	88,194,246 (GRCm39)	nonsense	probably null
R4808:Hjurp	UTSW	1	88,204,937 (GRCm39)	splice site	probably benign
R4900:Hjurp	UTSW	1	88,194,246 (GRCm39)	nonsense	probably null
R4901:Hjurp	UTSW	1	88,194,246 (GRCm39)	nonsense	probably null
R5023:Hjurp	UTSW	1	88,202,772 (GRCm39)	missense	possibly damaging	0.59
R5024:Hjurp	UTSW	1	88,202,772 (GRCm39)	missense	possibly damaging	0.59
R5076:Hjurp	UTSW	1	88,194,246 (GRCm39)	nonsense	probably null
R5123:Hjurp	UTSW	1	88,202,772 (GRCm39)	missense	possibly damaging	0.59
R5236:Hjurp	UTSW	1	88,194,246 (GRCm39)	nonsense	probably null
R5300:Hjurp	UTSW	1	88,194,246 (GRCm39)	nonsense	probably null
R5318:Hjurp	UTSW	1	88,194,246 (GRCm39)	nonsense	probably null
R5370:Hjurp	UTSW	1	88,194,246 (GRCm39)	nonsense	probably null
R5410:Hjurp	UTSW	1	88,194,246 (GRCm39)	nonsense	probably null
R5445:Hjurp	UTSW	1	88,194,038 (GRCm39)	missense	probably benign	0.43
R5457:Hjurp	UTSW	1	88,194,247 (GRCm39)	frame shift	probably null
R5497:Hjurp	UTSW	1	88,194,042 (GRCm39)	missense	possibly damaging	0.92
R5560:Hjurp	UTSW	1	88,194,246 (GRCm39)	nonsense	probably null
R5561:Hjurp	UTSW	1	88,194,246 (GRCm39)	nonsense	probably null
R5615:Hjurp	UTSW	1	88,194,246 (GRCm39)	nonsense	probably null
R5661:Hjurp	UTSW	1	88,204,937 (GRCm39)	splice site	probably benign
R5722:Hjurp	UTSW	1	88,194,246 (GRCm39)	nonsense	probably null
R6087:Hjurp	UTSW	1	88,194,246 (GRCm39)	nonsense	probably null
R6089:Hjurp	UTSW	1	88,194,246 (GRCm39)	nonsense	probably null
R6090:Hjurp	UTSW	1	88,194,246 (GRCm39)	nonsense	probably null
R6125:Hjurp	UTSW	1	88,194,246 (GRCm39)	nonsense	probably null
R6175:Hjurp	UTSW	1	88,194,246 (GRCm39)	nonsense	probably null
R6362:Hjurp	UTSW	1	88,202,772 (GRCm39)	missense	possibly damaging	0.59
R6659:Hjurp	UTSW	1	88,194,246 (GRCm39)	nonsense	probably null
R7016:Hjurp	UTSW	1	88,194,000 (GRCm39)	utr 3 prime	probably benign
R7016:Hjurp	UTSW	1	88,193,999 (GRCm39)	utr 3 prime	probably benign
R7045:Hjurp	UTSW	1	88,194,000 (GRCm39)	utr 3 prime	probably benign
R7179:Hjurp	UTSW	1	88,194,000 (GRCm39)	utr 3 prime	probably benign
R7200:Hjurp	UTSW	1	88,194,000 (GRCm39)	utr 3 prime	probably benign
R7912:Hjurp	UTSW	1	88,194,000 (GRCm39)	utr 3 prime	probably benign
R8215:Hjurp	UTSW	1	88,194,246 (GRCm39)	nonsense	probably null
R8968:Hjurp	UTSW	1	88,193,999 (GRCm39)	utr 3 prime	probably benign
R9038:Hjurp	UTSW	1	88,194,246 (GRCm39)	nonsense	probably null
R9115:Hjurp	UTSW	1	88,193,999 (GRCm39)	utr 3 prime	probably benign
R9133:Hjurp	UTSW	1	88,202,772 (GRCm39)	missense	possibly damaging	0.59
R9146:Hjurp	UTSW	1	88,194,000 (GRCm39)	utr 3 prime	probably benign
R9221:Hjurp	UTSW	1	88,193,999 (GRCm39)	utr 3 prime	probably benign
R9475:Hjurp	UTSW	1	88,193,999 (GRCm39)	utr 3 prime	probably benign
R9482:Hjurp	UTSW	1	88,193,996 (GRCm39)	utr 3 prime	probably benign
R9565:Hjurp	UTSW	1	88,194,000 (GRCm39)	utr 3 prime	probably benign
R9599:Hjurp	UTSW	1	88,194,000 (GRCm39)	utr 3 prime	probably benign
V5622:Hjurp	UTSW	1	88,205,247 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- AAGTCCAAGTCCTTCTGCGG -3'
(R):5'- GCAATGTGACAATCAGCGATTTG -3'

Sequencing Primer
(F):5'- CTTCTGCGGCATCATCTGGAG -3'
(R):5'- CAATCAGCGATTTGTATGAAGGC -3'

Posted On

2019-10-07