Mutagenetix > Incidental Mutations

Incidental Mutation 'R5445:Hjurp'

427372

Institutional Source

Beutler Lab

Gene Symbol

Hjurp

Ensembl Gene

ENSMUSG00000044783

Gene Name

Holliday junction recognition protein

Synonyms

MMRRC Submission

043010-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.862) question?

Stock #

R5445 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

88262471-88277633 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 88266316 bp

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]

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
A430105I19Rik	T	C	2: 118,759,586	D259G	probably damaging	Het
Abcg5	A	T	17: 84,671,129	D300E	probably damaging	Het
Apbb1ip	T	C	2: 22,835,948	V244A	possibly damaging	Het
Arhgap32	T	C	9: 32,248,382	S232P	probably benign	Het
Atf7ip	G	A	6: 136,587,257	V833M	probably damaging	Het
Casp7	A	G	19: 56,433,338		probably null	Het
Celsr2	T	A	3: 108,392,658	E2911D	probably benign	Het
Cep350	T	C	1: 155,894,723	D1807G	probably benign	Het
Chrd	A	G	16: 20,738,910	T753A	possibly damaging	Het
Clasp2	A	G	9: 113,903,946	D971G	probably damaging	Het
Cnnm2	A	G	19: 46,877,288	T772A	possibly damaging	Het
Cntn1	A	T	15: 92,295,077	N687Y	probably damaging	Het
Col6a3	G	A	1: 90,782,039	R1812*	probably null	Het
Dsc2	T	C	18: 20,035,303	I700V	possibly damaging	Het
Fam71d	G	A	12: 78,715,116	E185K	probably damaging	Het
Flt3	G	A	5: 147,355,095	Q540*	probably null	Het
Fmo4	T	A	1: 162,805,273	I170F	probably benign	Het
Fra10ac1	T	A	19: 38,219,462	D72V	possibly damaging	Het
Gemin6	T	G	17: 80,227,749	V46G	probably damaging	Het
Gm13023	T	A	4: 143,795,137	V441E	possibly damaging	Het
Gm2381	T	G	7: 42,820,001	H233P	probably damaging	Het
Gm5148	T	A	3: 37,714,846	Q75L	probably damaging	Het
Gm8369	T	C	19: 11,504,806	V27A	possibly damaging	Het
Gpr157	T	C	4: 150,102,368	S318P	probably benign	Het
Hectd4	G	A	5: 121,266,274	V405M	probably benign	Het
Hemgn	T	C	4: 46,400,738	R41G	probably benign	Het
Hhipl1	T	A	12: 108,328,208	L791Q	probably damaging	Het
Ifi207	T	C	1: 173,727,797	E773G	probably damaging	Het
Kcnh6	T	C	11: 106,023,859	Y697H	probably damaging	Het
Lonrf2	T	C	1: 38,807,153	T313A	probably benign	Het
Lrba	G	T	3: 86,368,595	V1757L	probably benign	Het
Lrrc24	T	C	15: 76,716,106	T278A	probably benign	Het
Ltbp2	T	C	12: 84,809,654	I679V	probably null	Het
Mapk4	G	T	18: 73,931,002	T383K	probably benign	Het
Mdn1	C	T	4: 32,723,690	P2542L	probably damaging	Het
Mia3	A	G	1: 183,336,022	V208A	probably benign	Het
Myo15	C	A	11: 60,520,777	C3234*	probably null	Het
Nlrp1b	G	T	11: 71,217,875	Q267K	probably benign	Het
Nphp3	A	G	9: 104,004,723	K37E	probably damaging	Het
Nwd2	T	C	5: 63,805,338	M755T	probably damaging	Het
Olfr482	A	G	7: 108,094,742	V276A	possibly damaging	Het
Olfr655	A	G	7: 104,596,821	F120S	probably damaging	Het
Olfr819	T	A	10: 129,966,289	H137L	probably benign	Het
Pdlim5	C	T	3: 142,352,734	R83K	probably null	Het
Plekha5	A	T	6: 140,552,733	R173*	probably null	Het
Rbms3	T	A	9: 117,251,785	D6V	possibly damaging	Het
Rhoq	A	T	17: 86,964,327	Y57F	probably benign	Het
Rrm1	A	T	7: 102,451,023	T204S	possibly damaging	Het
Slf1	A	T	13: 77,091,204	I447N	probably benign	Het
Smarcc2	T	A	10: 128,488,074		probably benign	Het
Spdye4c	C	T	2: 128,596,564	Q281*	probably null	Het
Tert	T	A	13: 73,644,284	M890K	probably benign	Het
Tln1	C	A	4: 43,543,905	R1198L	probably benign	Het
Tmco4	A	G	4: 139,020,867	M253V	probably damaging	Het
Usp19	G	T	9: 108,497,920	V782F	possibly damaging	Het
Usp33	T	A	3: 152,374,623	S464T	probably damaging	Het
Usp47	A	T	7: 112,074,721	Y397F	probably damaging	Het
Vmn1r12	A	G	6: 57,159,481	T144A	probably benign	Het
Vmn2r90	A	T	17: 17,734,124	H850L	probably benign	Het
Wdr66	C	T	5: 123,287,177	T294M	probably damaging	Het
Zfhx3	A	T	8: 108,956,210	Q3427L	unknown	Het
Zfp236	G	T	18: 82,682,156	Q63K	probably benign	Het
Zfp7	T	A	15: 76,890,854	C365*	probably null	Het
Zfp786	T	C	6: 47,819,685	E773G	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
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
R1965:Hjurp	UTSW	1	88266524	nonsense	probably null
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
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
V5622:Hjurp	UTSW	1	88277525	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