Mutagenetix > Incidental Mutation

Incidental Mutation 'R5445:Hjurp'

427372

Institutional Source

Beutler Lab

Gene Symbol

Hjurp

Ensembl Gene

ENSMUSG00000044783

Gene Name

Holliday junction recognition protein

Synonyms

A730008H23Rik, C330011F01Rik, 6430706D22Rik

MMRRC Submission

043010-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.915) question?

Stock #

R5445 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

88190193-88205355 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 88194038 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Threonine at position 290 (K290T)

Ref Sequence

ENSEMBL: ENSMUSP00000054263 (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
AA Change: K290T

PolyPhen 2 Score 0.429 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000054263
Gene: ENSMUSG00000044783
AA Change: K290T

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
AA Change: K214T

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000070419
Gene: ENSMUSG00000044783
AA Change: K214T

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

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg5	A	T	17: 84,978,557 (GRCm39)	D300E	probably damaging	Het
Apbb1ip	T	C	2: 22,725,960 (GRCm39)	V244A	possibly damaging	Het
Arhgap32	T	C	9: 32,159,678 (GRCm39)	S232P	probably benign	Het
Atf7ip	G	A	6: 136,564,255 (GRCm39)	V833M	probably damaging	Het
Casp7	A	G	19: 56,421,770 (GRCm39)		probably null	Het
Ccdc9b	T	C	2: 118,590,067 (GRCm39)	D259G	probably damaging	Het
Celsr2	T	A	3: 108,299,974 (GRCm39)	E2911D	probably benign	Het
Cep350	T	C	1: 155,770,469 (GRCm39)	D1807G	probably benign	Het
Cfap251	C	T	5: 123,425,240 (GRCm39)	T294M	probably damaging	Het
Chrd	A	G	16: 20,557,660 (GRCm39)	T753A	possibly damaging	Het
Clasp2	A	G	9: 113,733,014 (GRCm39)	D971G	probably damaging	Het
Cnnm2	A	G	19: 46,865,727 (GRCm39)	T772A	possibly damaging	Het
Cntn1	A	T	15: 92,192,958 (GRCm39)	N687Y	probably damaging	Het
Col6a3	G	A	1: 90,709,761 (GRCm39)	R1812*	probably null	Het
Dsc2	T	C	18: 20,168,360 (GRCm39)	I700V	possibly damaging	Het
Flt3	G	A	5: 147,291,905 (GRCm39)	Q540*	probably null	Het
Fmo4	T	A	1: 162,632,842 (GRCm39)	I170F	probably benign	Het
Fra10ac1	T	A	19: 38,207,910 (GRCm39)	D72V	possibly damaging	Het
Garin2	G	A	12: 78,761,890 (GRCm39)	E185K	probably damaging	Het
Gemin6	T	G	17: 80,535,178 (GRCm39)	V46G	probably damaging	Het
Gm2381	T	G	7: 42,469,425 (GRCm39)	H233P	probably damaging	Het
Gm5148	T	A	3: 37,768,995 (GRCm39)	Q75L	probably damaging	Het
Gm8369	T	C	19: 11,482,170 (GRCm39)	V27A	possibly damaging	Het
Gpr157	T	C	4: 150,186,825 (GRCm39)	S318P	probably benign	Het
Hectd4	G	A	5: 121,404,337 (GRCm39)	V405M	probably benign	Het
Hemgn	T	C	4: 46,400,738 (GRCm39)	R41G	probably benign	Het
Hhipl1	T	A	12: 108,294,467 (GRCm39)	L791Q	probably damaging	Het
Ifi207	T	C	1: 173,555,363 (GRCm39)	E773G	probably damaging	Het
Kcnh6	T	C	11: 105,914,685 (GRCm39)	Y697H	probably damaging	Het
Lonrf2	T	C	1: 38,846,234 (GRCm39)	T313A	probably benign	Het
Lrba	G	T	3: 86,275,902 (GRCm39)	V1757L	probably benign	Het
Lrrc24	T	C	15: 76,600,306 (GRCm39)	T278A	probably benign	Het
Ltbp2	T	C	12: 84,856,428 (GRCm39)	I679V	probably null	Het
Mapk4	G	T	18: 74,064,073 (GRCm39)	T383K	probably benign	Het
Mdn1	C	T	4: 32,723,690 (GRCm39)	P2542L	probably damaging	Het
Mia3	A	G	1: 183,117,471 (GRCm39)	V208A	probably benign	Het
Myo15a	C	A	11: 60,411,603 (GRCm39)	C3234*	probably null	Het
Nlrp1b	G	T	11: 71,108,701 (GRCm39)	Q267K	probably benign	Het
Nphp3	A	G	9: 103,881,922 (GRCm39)	K37E	probably damaging	Het
Nwd2	T	C	5: 63,962,681 (GRCm39)	M755T	probably damaging	Het
Or10u4	T	A	10: 129,802,158 (GRCm39)	H137L	probably benign	Het
Or52ac1	A	G	7: 104,246,028 (GRCm39)	F120S	probably damaging	Het
Or5p58	A	G	7: 107,693,949 (GRCm39)	V276A	possibly damaging	Het
Pdlim5	C	T	3: 142,058,495 (GRCm39)	R83K	probably null	Het
Plekha5	A	T	6: 140,498,459 (GRCm39)	R173*	probably null	Het
Pramel25	T	A	4: 143,521,707 (GRCm39)	V441E	possibly damaging	Het
Rbms3	T	A	9: 117,080,853 (GRCm39)	D6V	possibly damaging	Het
Rhoq	A	T	17: 87,271,755 (GRCm39)	Y57F	probably benign	Het
Rrm1	A	T	7: 102,100,230 (GRCm39)	T204S	possibly damaging	Het
Slf1	A	T	13: 77,239,323 (GRCm39)	I447N	probably benign	Het
Smarcc2	T	A	10: 128,323,943 (GRCm39)		probably benign	Het
Spdye4c	C	T	2: 128,438,484 (GRCm39)	Q281*	probably null	Het
Tert	T	A	13: 73,792,403 (GRCm39)	M890K	probably benign	Het
Tln1	C	A	4: 43,543,905 (GRCm39)	R1198L	probably benign	Het
Tmco4	A	G	4: 138,748,178 (GRCm39)	M253V	probably damaging	Het
Usp19	G	T	9: 108,375,119 (GRCm39)	V782F	possibly damaging	Het
Usp33	T	A	3: 152,080,260 (GRCm39)	S464T	probably damaging	Het
Usp47	A	T	7: 111,673,928 (GRCm39)	Y397F	probably damaging	Het
Vmn1r12	A	G	6: 57,136,466 (GRCm39)	T144A	probably benign	Het
Vmn2r90	A	T	17: 17,954,386 (GRCm39)	H850L	probably benign	Het
Zfhx3	A	T	8: 109,682,842 (GRCm39)	Q3427L	unknown	Het
Zfp236	G	T	18: 82,700,281 (GRCm39)	Q63K	probably benign	Het
Zfp7	T	A	15: 76,775,054 (GRCm39)	C365*	probably null	Het
Zfp786	T	C	6: 47,796,619 (GRCm39)	E773G	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
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
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'- TGGCGTTTGCTTCCTTCAAG -3'
(R):5'- TCTCCTTACTTGGGACCAGCAG -3'

Sequencing Primer
(F):5'- CGTTTGCTTCCTTCAAGAGAAACG -3'
(R):5'- TAAGCAGCCAGTCCTTTGAG -3'

Posted On

2016-09-01