Mutagenetix > Incidental Mutation

Incidental Mutation 'R1965:Hjurp'

218237

Institutional Source

Beutler Lab

Gene Symbol

Hjurp

Ensembl Gene

ENSMUSG00000044783

Gene Name

Holliday junction recognition protein

Synonyms

MMRRC Submission

039978-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.908) question?

Stock #

R1965 (G1)

Quality Score

217

Status

Not validated

Chromosome

Chromosomal Location

88262471-88277633 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

GT to GTT at 88266524 bp (GRCm38)

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: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700007G11Rik	T	A	5: 98,346,234	D32E	probably damaging	Het
1700042G07Rik	G	A	4: 116,174,179	C82Y	probably damaging	Het
Aco1	T	G	4: 40,175,730	L157R	probably damaging	Het
Acot11	A	T	4: 106,749,353	L513Q	probably damaging	Het
Amd1	A	G	10: 40,294,759	I52T	probably benign	Het
Ap2b1	T	C	11: 83,346,895	I557T	probably benign	Het
Arel1	T	A	12: 84,940,399		probably null	Het
Arg1	T	A	10: 24,916,864		probably null	Het
Atf1	A	T	15: 100,254,171	M135L	probably benign	Het
Atf2	T	C	2: 73,850,898	E77G	possibly damaging	Het
Axin1	G	T	17: 26,184,225	A394S	probably damaging	Het
Axin1	A	T	17: 26,190,228	Q734L	probably damaging	Het
Brd8	G	C	18: 34,602,766	A886G	probably damaging	Het
Ccdc39	T	C	3: 33,826,480	K446R	probably damaging	Het
Celf3	T	C	3: 94,485,327	V35A	probably damaging	Het
Ckap2	T	C	8: 22,175,787	T415A	possibly damaging	Het
Crybg3	T	C	16: 59,503,237	Y1066C	probably damaging	Het
Csmd3	T	C	15: 47,849,748	H1506R	probably benign	Het
Dnah10	A	G	5: 124,775,203	D1808G	probably damaging	Het
Dsc3	C	T	18: 19,980,672	G398R	probably damaging	Het
Emc2	A	G	15: 43,527,467	Q293R	probably damaging	Het
Evc2	A	G	5: 37,363,532	N251D	possibly damaging	Het
Fam151a	A	T	4: 106,733,915		probably benign	Het
Fam208a	T	G	14: 27,442,554	C272W	probably damaging	Het
Fbxw16	T	A	9: 109,441,221	I151F	probably damaging	Het
Fmnl2	A	G	2: 53,114,868	D658G	probably damaging	Het
Fnip2	G	A	3: 79,493,472	T314I	probably benign	Het
Foxc2	T	A	8: 121,116,674	S20R	probably damaging	Het
Fpr-rs6	C	T	17: 20,182,656	G148R	probably damaging	Het
Fsip2	T	C	2: 82,992,780	S6286P	possibly damaging	Het
Fyb2	A	T	4: 104,913,649	I54F	probably benign	Het
Gbf1	T	C	19: 46,271,564	F999L	probably damaging	Het
Gldc	G	A	19: 30,137,113	R466*	probably null	Het
Gm12695	T	A	4: 96,762,845	S124C	probably benign	Het
Gm4846	A	T	1: 166,486,964	I370N	possibly damaging	Het
Gsdmc3	T	C	15: 63,858,447	T423A	probably damaging	Het
Jarid2	T	A	13: 44,906,276	N661K	probably damaging	Het
Kcnmb3	T	C	3: 32,472,343	Y233C	probably damaging	Het
Kidins220	A	G	12: 24,994,906	D191G	probably damaging	Het
Kmt2a	A	G	9: 44,821,460		probably benign	Het
Krt1	T	C	15: 101,848,992	D261G	probably benign	Het
Lrba	A	G	3: 86,605,868		probably null	Het
Myo1f	C	T	17: 33,598,172	R730*	probably null	Het
Ncoa7	C	A	10: 30,654,430	E30*	probably null	Het
Neurod4	T	A	10: 130,271,049	K119*	probably null	Het
Npy5r	T	C	8: 66,681,277	D288G	probably benign	Het
Nr3c2	A	T	8: 76,909,463	I398L	probably damaging	Het
Olfr1002	T	C	2: 85,647,746	T192A	possibly damaging	Het
Olfr1151	A	G	2: 87,857,415	K80R	probably benign	Het
Olfr1160	A	G	2: 88,006,304	F149S	probably damaging	Het
Olfr1270	T	C	2: 90,149,404	S201G	probably damaging	Het
Olfr1277	T	C	2: 111,269,593	Y258C	probably damaging	Het
Olfr533	C	A	7: 140,466,661	F153L	probably benign	Het
Olfr624	A	T	7: 103,670,896	I45N	probably damaging	Het
Olfr713	T	C	7: 107,036,358	S68P	probably damaging	Het
Pcf11	A	T	7: 92,661,601	M393K	probably benign	Het
Pck2	T	C	14: 55,542,507	V71A	probably benign	Het
Pdzd8	G	T	19: 59,300,122	L949I	probably benign	Het
Pdzrn4	G	A	15: 92,746,309		probably null	Het
Phospho1	A	G	11: 95,830,879	N125S	probably damaging	Het
Pirb	A	T	7: 3,717,638	L287Q	probably benign	Het
Ppid	A	T	3: 79,602,299	K308*	probably null	Het
Ppp1r1b	A	G	11: 98,355,363	E57G	probably damaging	Het
Prtg	T	G	9: 72,848,322	S269A	probably benign	Het
Rbbp5	T	A	1: 132,494,297	S312T	probably damaging	Het
Rbm11	T	A	16: 75,598,768		probably null	Het
Retreg1	A	G	15: 25,970,164	T139A	probably damaging	Het
Riok3	T	A	18: 12,136,962	H120Q	probably damaging	Het
Rln1	A	T	19: 29,334,595	M1K	probably null	Het
Rpp30	C	T	19: 36,089,149	S94L	probably damaging	Het
Sccpdh	C	T	1: 179,684,314	P117L	probably damaging	Het
Serac1	T	C	17: 6,048,999	K506E	possibly damaging	Het
Serping1	G	T	2: 84,765,728	T454K	probably damaging	Het
Slc1a2	T	A	2: 102,739,900	N174K	probably damaging	Het
Slc2a2	A	G	3: 28,719,485	Q313R	probably damaging	Het
Slc46a2	T	A	4: 59,914,249	S225C	probably damaging	Het
Smarcc2	G	A	10: 128,474,758	E419K	probably damaging	Het
Stkld1	T	A	2: 26,946,732		probably null	Het
Szt2	A	G	4: 118,383,965	M1704T	probably benign	Het
Tfcp2l1	C	T	1: 118,652,923	Q116*	probably null	Het
Timm44	A	G	8: 4,260,603	M383T	possibly damaging	Het
Tnpo2	G	A	8: 85,045,317		probably null	Het
Tnrc6b	A	G	15: 80,880,439	K714R	probably damaging	Het
Wdfy3	A	G	5: 101,951,312	L290P	probably damaging	Het
Wdr59	A	G	8: 111,451,077	F898L	probably damaging	Het
Zfp120	A	T	2: 150,117,398	C335S	probably damaging	Het
Zfp518a	T	C	19: 40,913,510	S628P	probably benign	Het
Zfp879	A	T	11: 50,833,528	C234S	probably damaging	Het

Other mutations in Hjurp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00990:Hjurp	APN	1	88270269	missense	probably benign	0.04
IGL03099:Hjurp	APN	1	88266289	missense	probably benign	0.09
BB003:Hjurp	UTSW	1	88266278	utr 3 prime	probably benign
IGL03097:Hjurp	UTSW	1	88266280	utr 3 prime	probably benign
IGL03098:Hjurp	UTSW	1	88266280	utr 3 prime	probably benign
IGL03147:Hjurp	UTSW	1	88266280	utr 3 prime	probably benign
PIT4131001:Hjurp	UTSW	1	88266278	utr 3 prime	probably benign
PIT4142001:Hjurp	UTSW	1	88266046	missense	probably damaging	0.98
PIT4142001:Hjurp	UTSW	1	88266278	utr 3 prime	probably benign
PIT4142001:Hjurp	UTSW	1	88266561	utr 3 prime	probably benign
PIT4142001:Hjurp	UTSW	1	88266616	missense	probably benign	0.04
PIT4378001:Hjurp	UTSW	1	88266277	utr 3 prime	probably benign
PIT4812001:Hjurp	UTSW	1	88266277	utr 3 prime	probably benign
R0053:Hjurp	UTSW	1	88277215	splice site	probably benign
R0371:Hjurp	UTSW	1	88277368	splice site	probably benign
R0442:Hjurp	UTSW	1	88266524	nonsense	probably null
R0762:Hjurp	UTSW	1	88277215	splice site	probably benign
R0928:Hjurp	UTSW	1	88266524	nonsense	probably null
R1333:Hjurp	UTSW	1	88266046	missense	probably damaging	0.98
R1342:Hjurp	UTSW	1	88277368	splice site	probably benign
R1364:Hjurp	UTSW	1	88266525	frame shift	probably null
R1496:Hjurp	UTSW	1	88275050	missense	possibly damaging	0.59
R1637:Hjurp	UTSW	1	88266121	missense	probably benign	0.03
R1905:Hjurp	UTSW	1	88266616	missense	probably benign	0.04
R1992:Hjurp	UTSW	1	88266524	nonsense	probably null
R2002:Hjurp	UTSW	1	88266524	nonsense	probably null
R2023:Hjurp	UTSW	1	88266524	nonsense	probably null
R2024:Hjurp	UTSW	1	88266524	nonsense	probably null
R2332:Hjurp	UTSW	1	88277215	splice site	probably benign
R2420:Hjurp	UTSW	1	88266524	nonsense	probably null
R2422:Hjurp	UTSW	1	88266561	utr 3 prime	probably benign
R2869:Hjurp	UTSW	1	88266524	nonsense	probably null
R2870:Hjurp	UTSW	1	88266524	nonsense	probably null
R2871:Hjurp	UTSW	1	88266524	nonsense	probably null
R2872:Hjurp	UTSW	1	88266524	nonsense	probably null
R3019:Hjurp	UTSW	1	88266524	nonsense	probably null
R3021:Hjurp	UTSW	1	88266524	nonsense	probably null
R3150:Hjurp	UTSW	1	88266561	utr 3 prime	probably benign
R3411:Hjurp	UTSW	1	88266524	nonsense	probably null
R3552:Hjurp	UTSW	1	88266524	nonsense	probably null
R3704:Hjurp	UTSW	1	88277215	splice site	probably benign
R3730:Hjurp	UTSW	1	88266524	nonsense	probably null
R3733:Hjurp	UTSW	1	88266524	nonsense	probably null
R3764:Hjurp	UTSW	1	88266524	nonsense	probably null
R3799:Hjurp	UTSW	1	88277215	splice site	probably benign
R3819:Hjurp	UTSW	1	88277215	splice site	probably benign
R3857:Hjurp	UTSW	1	88266524	nonsense	probably null
R3930:Hjurp	UTSW	1	88266524	nonsense	probably null
R3952:Hjurp	UTSW	1	88277215	splice site	probably benign
R4090:Hjurp	UTSW	1	88277215	splice site	probably benign
R4159:Hjurp	UTSW	1	88277215	splice site	probably benign
R4207:Hjurp	UTSW	1	88277215	splice site	probably benign
R4322:Hjurp	UTSW	1	88277215	splice site	probably benign
R4391:Hjurp	UTSW	1	88266561	utr 3 prime	probably benign
R4392:Hjurp	UTSW	1	88266524	nonsense	probably null
R4393:Hjurp	UTSW	1	88266524	nonsense	probably null
R4393:Hjurp	UTSW	1	88266561	utr 3 prime	probably benign
R4397:Hjurp	UTSW	1	88266524	nonsense	probably null
R4700:Hjurp	UTSW	1	88266524	nonsense	probably null
R4808:Hjurp	UTSW	1	88277215	splice site	probably benign
R4900:Hjurp	UTSW	1	88266524	nonsense	probably null
R4901:Hjurp	UTSW	1	88266524	nonsense	probably null
R5023:Hjurp	UTSW	1	88275050	missense	possibly damaging	0.59
R5024:Hjurp	UTSW	1	88275050	missense	possibly damaging	0.59
R5076:Hjurp	UTSW	1	88266524	nonsense	probably null
R5123:Hjurp	UTSW	1	88275050	missense	possibly damaging	0.59
R5236:Hjurp	UTSW	1	88266524	nonsense	probably null
R5300:Hjurp	UTSW	1	88266524	nonsense	probably null
R5318:Hjurp	UTSW	1	88266524	nonsense	probably null
R5370:Hjurp	UTSW	1	88266524	nonsense	probably null
R5410:Hjurp	UTSW	1	88266524	nonsense	probably null
R5445:Hjurp	UTSW	1	88266316	missense	probably benign	0.43
R5457:Hjurp	UTSW	1	88266525	frame shift	probably null
R5497:Hjurp	UTSW	1	88266320	missense	possibly damaging	0.92
R5560:Hjurp	UTSW	1	88266524	nonsense	probably null
R5561:Hjurp	UTSW	1	88266524	nonsense	probably null
R5615:Hjurp	UTSW	1	88266524	nonsense	probably null
R5661:Hjurp	UTSW	1	88277215	splice site	probably benign
R5722:Hjurp	UTSW	1	88266524	nonsense	probably null
R6087:Hjurp	UTSW	1	88266524	nonsense	probably null
R6089:Hjurp	UTSW	1	88266524	nonsense	probably null
R6090:Hjurp	UTSW	1	88266524	nonsense	probably null
R6125:Hjurp	UTSW	1	88266524	nonsense	probably null
R6175:Hjurp	UTSW	1	88266524	nonsense	probably null
R6362:Hjurp	UTSW	1	88275050	missense	possibly damaging	0.59
R6659:Hjurp	UTSW	1	88266524	nonsense	probably null
R7016:Hjurp	UTSW	1	88266277	utr 3 prime	probably benign
R7016:Hjurp	UTSW	1	88266278	utr 3 prime	probably benign
R7045:Hjurp	UTSW	1	88266278	utr 3 prime	probably benign
R7179:Hjurp	UTSW	1	88266278	utr 3 prime	probably benign
R7200:Hjurp	UTSW	1	88266278	utr 3 prime	probably benign
R7463:Hjurp	UTSW	1	88266277	utr 3 prime	probably benign
R7912:Hjurp	UTSW	1	88266278	utr 3 prime	probably benign
R8215:Hjurp	UTSW	1	88266524	nonsense	probably null
R8968:Hjurp	UTSW	1	88266277	utr 3 prime	probably benign
R9038:Hjurp	UTSW	1	88266524	nonsense	probably null
R9115:Hjurp	UTSW	1	88266277	utr 3 prime	probably benign
R9133:Hjurp	UTSW	1	88275050	missense	possibly damaging	0.59
R9146:Hjurp	UTSW	1	88266278	utr 3 prime	probably benign
R9221:Hjurp	UTSW	1	88266277	utr 3 prime	probably benign
R9475:Hjurp	UTSW	1	88266277	utr 3 prime	probably benign
R9482:Hjurp	UTSW	1	88266274	utr 3 prime	probably benign
R9565:Hjurp	UTSW	1	88266278	utr 3 prime	probably benign
R9599:Hjurp	UTSW	1	88266278	utr 3 prime	probably benign
V5622:Hjurp	UTSW	1	88277525	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

2014-08-01