Mutagenetix > Incidental Mutation

Incidental Mutation 'R7016:Hjurp'

545287

Institutional Source

Beutler Lab

Gene Symbol

Hjurp

Ensembl Gene

ENSMUSG00000044783

Gene Name

Holliday junction recognition protein

Synonyms

A730008H23Rik, C330011F01Rik, 6430706D22Rik

MMRRC Submission

045117-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.917) question?

Stock #

R7016 (G1)

Quality Score

217.468

Status

Validated

Chromosome

Chromosomal Location

88190193-88205355 bp(-) (GRCm39)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT to TCT at 88194000 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: 99.5%
20x: 98.2%

Validation Efficiency

98% (63/64)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	T	A	5: 8,986,843 (GRCm39)	V754D	probably benign	Het
Actn1	T	A	12: 80,219,742 (GRCm39)	M710L	possibly damaging	Het
Adam1a	A	G	5: 121,659,101 (GRCm39)	F64S	probably benign	Het
Aip	G	T	19: 4,171,402 (GRCm39)	D11E	probably benign	Het
Ak7	T	A	12: 105,747,938 (GRCm39)	Y714*	probably null	Het
Amhr2	A	G	15: 102,362,799 (GRCm39)	E522G	possibly damaging	Het
Amotl1	A	G	9: 14,504,995 (GRCm39)	L108P	probably damaging	Het
Arhgef17	A	G	7: 100,528,184 (GRCm39)	S677P	probably benign	Het
Asph	T	C	4: 9,630,604 (GRCm39)		probably null	Het
Atp11b	T	C	3: 35,895,185 (GRCm39)	S908P	probably benign	Het
Atp13a3	C	A	16: 30,157,308 (GRCm39)	V903L	possibly damaging	Het
Bcam	G	A	7: 19,492,368 (GRCm39)	R576*	probably null	Het
Btbd2	A	G	10: 80,484,449 (GRCm39)	S141P	probably damaging	Het
Cacna1b	T	C	2: 24,652,860 (GRCm39)	N67S	possibly damaging	Het
Cc2d2b	A	G	19: 40,784,248 (GRCm39)	T872A	possibly damaging	Het
Ccdc24	T	A	4: 117,728,313 (GRCm39)	I144F	probably null	Het
Cep44	A	T	8: 56,997,234 (GRCm39)	F101L	possibly damaging	Het
Cfap410	T	A	10: 77,818,790 (GRCm39)	C154S	probably benign	Het
Cimap1d	T	C	10: 79,475,790 (GRCm39)	Y258C	probably damaging	Het
Disp1	C	A	1: 182,869,030 (GRCm39)	R1130L	probably damaging	Het
Dnajc21	G	T	15: 10,461,493 (GRCm39)	Y152*	probably null	Het
Edem2	A	G	2: 155,557,992 (GRCm39)	F214L	possibly damaging	Het
Fam118b	G	A	9: 35,135,014 (GRCm39)	R198W	probably damaging	Het
Fgb	A	G	3: 82,953,371 (GRCm39)	V133A	probably benign	Het
Fsip2	A	G	2: 82,820,979 (GRCm39)	T5571A	probably benign	Het
Gm40460	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,554 (GRCm39)		probably benign	Het
Hnf4a	T	A	2: 163,406,193 (GRCm39)	Y277N	probably damaging	Het
Htatip2	A	G	7: 49,420,583 (GRCm39)	D143G	possibly damaging	Het
Itgae	A	G	11: 73,010,342 (GRCm39)	N611D	probably damaging	Het
Ksr1	A	T	11: 78,918,362 (GRCm39)	N515K	probably damaging	Het
Lrp1	C	A	10: 127,395,836 (GRCm39)		probably null	Het
Map3k20	T	A	2: 72,208,979 (GRCm39)	V195D	probably damaging	Het
Meox2	A	G	12: 37,159,223 (GRCm39)	S132G	probably benign	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Nell2	T	A	15: 95,127,032 (GRCm39)	N781I	possibly damaging	Het
Or12d16-ps1	G	A	17: 37,706,094 (GRCm39)	G221D	possibly damaging	Het
Or13a22	A	G	7: 140,073,153 (GRCm39)	T201A	probably benign	Het
Or51m1	A	G	7: 103,578,737 (GRCm39)	I236V	probably benign	Het
Or5e1	A	G	7: 108,354,918 (GRCm39)	N285S	probably damaging	Het
Otoa	A	T	7: 120,746,989 (GRCm39)	Q918L	probably damaging	Het
Palld	T	G	8: 61,969,032 (GRCm39)	K1022T	probably damaging	Het
Parp8	A	T	13: 117,031,627 (GRCm39)	S362T	probably damaging	Het
Phrf1	A	G	7: 140,817,476 (GRCm39)	E95G	probably damaging	Het
Pls1	A	T	9: 95,668,994 (GRCm39)	F76I	probably damaging	Het
Pnp	T	A	14: 51,187,706 (GRCm39)		probably null	Het
Ptdss1	A	C	13: 67,120,685 (GRCm39)	M294L	probably benign	Het
Rictor	T	A	15: 6,804,361 (GRCm39)		probably null	Het
Rilp	A	G	11: 75,401,745 (GRCm39)	E175G	probably damaging	Het
Serpina16	T	A	12: 103,641,630 (GRCm39)	T32S	probably benign	Het
Sim1	C	T	10: 50,860,346 (GRCm39)	S736L	probably benign	Het
Smarcc2	T	G	10: 128,321,198 (GRCm39)		probably null	Het
Smtn	A	G	11: 3,480,368 (GRCm39)		probably null	Het
Sspo	T	A	6: 48,426,098 (GRCm39)	W98R	probably damaging	Het
St8sia3	A	T	18: 64,402,654 (GRCm39)	I98F	probably benign	Het
Taf10	A	T	7: 105,393,205 (GRCm39)		probably null	Het
Tasor2	A	T	13: 3,626,857 (GRCm39)	V1031E	possibly damaging	Het
Tbc1d4	T	A	14: 101,724,877 (GRCm39)	N580I	probably damaging	Het
Trim12c	A	T	7: 103,997,413 (GRCm39)	C48S		Het
Tsc22d1	C	A	14: 76,654,982 (GRCm39)	T405K	probably damaging	Het
Tubgcp5	A	G	7: 55,443,977 (GRCm39)	D2G	possibly damaging	Het
Wwc2	T	C	8: 48,300,583 (GRCm39)	E960G	unknown	Het
Yme1l1	T	A	2: 23,076,367 (GRCm39)		probably null	Het
Zbtb2	G	C	10: 4,318,646 (GRCm39)	P460R	probably damaging	Het
Zfp62	T	G	11: 49,106,764 (GRCm39)	I285S	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
R6659:Hjurp	UTSW	1	88,194,246 (GRCm39)	nonsense	probably null
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'- CTCGCTCACGGTTTAAGTCC -3'
(R):5'- CAGCGATTTGTATGAAGGCATG -3'

Sequencing Primer
(F):5'- GCTCACGGTTTAAGTCCAAGTC -3'
(R):5'- CATGATGCATTCCATGAGTAGGC -3'

Posted On

2019-05-13