Mutagenetix > Incidental Mutation

Incidental Mutation 'R6659:Hjurp'

526746

Institutional Source

Beutler Lab

Gene Symbol

Hjurp

Ensembl Gene

ENSMUSG00000044783

Gene Name

Holliday junction recognition protein

Synonyms

A730008H23Rik, C330011F01Rik, 6430706D22Rik

MMRRC Submission

044779-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.917) question?

Stock #

R6659 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

88190193-88205355 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

GT to GTT at 88194246 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000118659 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
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 null
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 null
Transcript: ENSMUST00000127446

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128532

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148384

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap2	T	C	16: 30,950,133 (GRCm39)	D212G	probably damaging	Het
Add1	C	T	5: 34,770,639 (GRCm39)	A250V	possibly damaging	Het
Atxn2	A	G	5: 121,916,027 (GRCm39)	N411S	probably benign	Het
AW551984	T	C	9: 39,500,395 (GRCm39)	T788A	probably benign	Het
Bhlhe40	TG	TGG	6: 108,641,818 (GRCm39)	254	probably null	Het
Ddx46	A	G	13: 55,817,537 (GRCm39)	T721A	probably damaging	Het
Eif2b1	G	A	5: 124,717,171 (GRCm39)		probably benign	Het
Eif4g3	A	G	4: 137,905,243 (GRCm39)	K1241E	probably damaging	Het
Engase	T	A	11: 118,372,142 (GRCm39)	Y145N	probably benign	Het
Fbrs	C	A	7: 127,087,091 (GRCm39)	A674D	probably damaging	Het
Gm4884	G	A	7: 40,694,046 (GRCm39)	G672R	probably damaging	Het
Iars2	T	A	1: 185,020,273 (GRCm39)	I954F	possibly damaging	Het
Itgad	A	T	7: 127,785,120 (GRCm39)	I310F	probably damaging	Het
Kcnmb3	A	G	3: 32,526,594 (GRCm39)	V199A	possibly damaging	Het
Kctd12	G	T	14: 103,219,622 (GRCm39)	D85E	probably damaging	Het
Lama1	G	A	17: 68,125,630 (GRCm39)	R2929H	probably damaging	Het
Lgmn	T	A	12: 102,368,951 (GRCm39)	Y176F	probably benign	Het
Lipo3	A	G	19: 33,533,828 (GRCm39)	F335L	possibly damaging	Het
Map2k3	T	C	11: 60,833,150 (GRCm39)	S46P	probably benign	Het
Megf8	C	A	7: 25,058,159 (GRCm39)	H2144Q	probably benign	Het
Neb	A	T	2: 52,124,365 (GRCm39)	W3694R	probably damaging	Het
Nek10	A	G	14: 14,861,684 (GRCm38)	E580G	probably benign	Het
Obscn	G	A	11: 58,929,835 (GRCm39)	P5930S	probably damaging	Het
Palld	A	G	8: 61,986,477 (GRCm39)	F621L	probably benign	Het
Pkn2	A	T	3: 142,509,348 (GRCm39)	I732N	probably damaging	Het
Plpbp	T	A	8: 27,542,307 (GRCm39)	I214N	possibly damaging	Het
Ppp1r37	A	G	7: 19,266,048 (GRCm39)	S573P	probably benign	Het
Prg4	C	A	1: 150,336,432 (GRCm39)	C97F	probably damaging	Het
Prmt2	T	C	10: 76,053,208 (GRCm39)	D269G	possibly damaging	Het
Ptbp3	T	A	4: 59,517,640 (GRCm39)	L80F	probably damaging	Het
Reep1	T	A	6: 71,750,179 (GRCm39)	F64I	probably damaging	Het
Srcap	C	A	7: 127,141,563 (GRCm39)	P1720Q	probably damaging	Het
Ssr1	A	T	13: 38,171,666 (GRCm39)	F124I	probably damaging	Het
Tbx18	A	G	9: 87,589,864 (GRCm39)	L358P	probably damaging	Het
Tfpt	T	C	7: 3,623,835 (GRCm39)	K71E	probably benign	Het
Tmem132a	C	A	19: 10,837,685 (GRCm39)	G542C	probably damaging	Het
Tmem135	C	A	7: 88,956,371 (GRCm39)	L81F	probably benign	Het
Tmem135	A	T	7: 88,956,372 (GRCm39)	L81*	probably null	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Washc5	A	G	15: 59,212,739 (GRCm39)		probably null	Het
Zfp24	T	C	18: 24,150,391 (GRCm39)	E173G	possibly damaging	Het
Zgrf1	T	C	3: 127,410,155 (GRCm39)	I1814T	probably damaging	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
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
R7463:Hjurp	UTSW	1	88,193,999 (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'- CCAGCTCTGGTTGATGTAGG -3'
(R):5'- AACTGTCATGGTTTGTGATGCC -3'

Sequencing Primer
(F):5'- AGGTCTTGGTGGAGATGATGCAG -3'
(R):5'- CCTGCCCGGTGGGTAAGTATG -3'

Posted On

2018-07-23