Mutagenetix > Incidental Mutation

Incidental Mutation 'R9221:Hjurp'

699435

Institutional Source

Beutler Lab

Gene Symbol

Hjurp

Ensembl Gene

ENSMUSG00000044783

Gene Name

Holliday junction recognition protein

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.908) question?

Stock #

R9221 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

88262471-88277633 bp(-) (GRCm38)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT to C at 88266277 bp (GRCm38)

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

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610528A11Rik	A	G	14: 37,107,395	S44P	probably damaging	Het
2810403A07Rik	T	C	3: 88,686,546	S81P	probably benign	Het
Abca4	A	G	3: 122,128,179	D1128G	probably damaging	Het
Acsm3	A	T	7: 119,768,908	R116*	probably null	Het
Ahnak	T	A	19: 9,012,579	D3742E	probably damaging	Het
Arhgef17	A	G	7: 100,879,611	S598P	possibly damaging	Het
Asxl2	T	C	12: 3,502,310	F1351L	probably damaging	Het
Atg7	C	T	6: 114,695,627	T267I	possibly damaging	Het
Bace2	A	G	16: 97,408,492	K202R	probably benign	Het
Bccip	G	T	7: 133,709,520	V55L	probably benign	Het
Bpifa1	T	A	2: 154,146,132	H198Q	possibly damaging	Het
Btbd7	A	G	12: 102,811,171	Y466H	probably damaging	Het
Cdc45	A	C	16: 18,786,771	S480A	probably benign	Het
Cenpe	T	C	3: 135,230,078	Y425H	possibly damaging	Het
Cep76	A	C	18: 67,634,907	M185R	probably damaging	Het
Chd5	G	T	4: 152,371,665	M930I	probably damaging	Het
Clstn2	G	T	9: 97,461,342	T684K	probably benign	Het
Col4a2	A	G	8: 11,441,943	N1270S	possibly damaging	Het
Crxos	A	G	7: 15,902,925	H141R	probably benign	Het
Dcc	A	G	18: 71,420,362	I741T	possibly damaging	Het
Ddx20	A	T	3: 105,680,369	C430*	probably null	Het
Dgki	G	A	6: 37,296,680	T12M	probably benign	Het
Dock6	T	C	9: 21,809,857	N1676S	possibly damaging	Het
Exosc6	G	A	8: 111,056,396	R9H	probably damaging	Het
Fstl5	A	G	3: 76,661,807	Q589R	probably damaging	Het
Gm4846	T	A	1: 166,497,390	Y44F	probably benign	Het
Gm498	G	T	7: 143,881,165		probably null	Het
Gtf3c2	A	C	5: 31,169,057	I370R	probably damaging	Het
Hspg2	A	G	4: 137,560,415	M3696V	possibly damaging	Het
Itga1	A	T	13: 115,030,159	C167*	probably null	Het
Kpna2	A	G	11: 106,989,332	S497P	probably damaging	Het
Krt77	T	A	15: 101,865,629	T197S	probably damaging	Het
Krtap6-5	T	C	16: 89,047,767	Y26C	unknown	Het
Lhfpl5	A	T	17: 28,580,159	D214V	possibly damaging	Het
Lrrtm1	A	G	6: 77,244,613	E351G	probably damaging	Het
Mphosph9	A	G	5: 124,265,364	V867A	probably benign	Het
Mtcl1	T	A	17: 66,343,884	M1529L	probably benign	Het
Mthfr	A	T	4: 148,048,169	Q268L	probably damaging	Het
Myo1d	A	T	11: 80,674,918	N360K	probably damaging	Het
Nbea	AC	A	3: 56,090,972		probably null	Het
Olfr1028	T	A	2: 85,951,841	Y259*	probably null	Het
Olfr1208	T	C	2: 88,896,911	S229G	probably benign	Het
Olfr1437	A	T	19: 12,321,972	M285K	probably damaging	Het
Olfr393	A	T	11: 73,847,282	V281E	probably damaging	Het
P2rx5	A	T	11: 73,171,829	T455S	probably damaging	Het
Palld	A	T	8: 61,516,557	F1244L	unknown	Het
Pbld1	A	G	10: 63,072,050	T125A		Het
Pde3b	G	A	7: 114,415,462		probably benign	Het
Pfkm	T	C	15: 98,121,307	S180P	probably damaging	Het
Pla2g4d	T	A	2: 120,269,972	R626S	possibly damaging	Het
Postn	A	G	3: 54,375,094	E492G	possibly damaging	Het
Prph2	A	G	17: 46,919,892	D237G	probably damaging	Het
Psmd4	T	C	3: 95,035,293	H105R	probably damaging	Het
Pygl	T	C	12: 70,195,627	N685S	probably damaging	Het
Rp1	A	G	1: 4,245,043	F502S	unknown	Het
Sik1	T	C	17: 31,847,193	I607V	probably benign	Het
Slc26a3	T	A	12: 31,463,471	I464N	possibly damaging	Het
Slc38a9	A	G	13: 112,689,376	N116S	probably damaging	Het
Sorcs2	C	A	5: 36,024,566		probably null	Het
Spink5	T	C	18: 43,986,300	L226P	probably damaging	Het
Tab1	G	A	15: 80,150,553	V180I	probably benign	Het
Tacc2	T	G	7: 130,624,328	S914R	probably damaging	Het
Tacc2	C	T	7: 130,624,479	R965C	probably benign	Het
Tlr9	A	G	9: 106,224,773	D421G	probably damaging	Het
Tmem181a	T	C	17: 6,256,990	L16P	probably damaging	Het
Trim58	A	T	11: 58,651,249	H345L	probably damaging	Het
Ttc13	G	A	8: 124,673,551	R688C	probably benign	Het
Ube2o	C	A	11: 116,542,838	V685L	probably damaging	Het
Uso1	A	G	5: 92,187,314	H511R	probably benign	Het
Vmn2r5	A	T	3: 64,504,300	Y282*	probably null	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
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
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
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'- TTAAGTCCAAGTCCTTCTGCGG -3'
(R):5'- TTGCAATGTGACAATCAGCG -3'

Sequencing Primer
(F):5'- CTTCTGCGGCATCATCTGGAG -3'
(R):5'- GCAATGTGACAATCAGCGATTTG -3'

Posted On

2022-02-07