Mutagenetix > Incidental Mutation

Incidental Mutation 'R1992:Hjurp'

223519

Institutional Source

Beutler Lab

Gene Symbol

Hjurp

Ensembl Gene

ENSMUSG00000044783

Gene Name

Holliday junction recognition protein

Synonyms

MMRRC Submission

040003-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.916) question?

Stock #

R1992 (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: 96.4%
20x: 92.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 123 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110008L16Rik	A	G	12: 55,338,206	D89G	probably damaging	Het
1600015I10Rik	T	A	6: 48,930,769	H234Q	probably damaging	Het
2310009B15Rik	T	C	1: 138,853,642	T90A	probably damaging	Het
4430402I18Rik	A	G	19: 28,948,624	F130L	probably damaging	Het
4932438A13Rik	A	T	3: 37,000,032	H3100L	probably benign	Het
A930011G23Rik	T	C	5: 99,233,925	D326G	possibly damaging	Het
Abcc2	A	T	19: 43,807,142	I446F	probably damaging	Het
Adamts14	A	G	10: 61,198,660	Y1150H	probably benign	Het
Adgrl2	A	G	3: 148,817,244	I217T	possibly damaging	Het
Afap1l1	A	T	18: 61,741,771	Y446*	probably null	Het
Aimp2	G	A	5: 143,906,730	A14V	probably damaging	Het
Akap8	G	A	17: 32,316,612	H143Y	probably damaging	Het
Aldh2	A	T	5: 121,575,963	V207E	possibly damaging	Het
Armc3	T	C	2: 19,293,142	Y575H	probably damaging	Het
Arpp21	T	C	9: 112,157,793	E230G	probably damaging	Het
Arrdc3	G	A	13: 80,883,689	D14N	probably damaging	Het
Atn1	A	G	6: 124,745,328		probably benign	Het
Atxn7l1	G	A	12: 33,358,744	D302N	probably damaging	Het
Bbs1	T	A	19: 4,891,708	H518L	probably benign	Het
Bmpr1a	C	A	14: 34,425,093	G241C	probably damaging	Het
Cacna1b	G	A	2: 24,732,306	P222L	probably damaging	Het
Calcrl	T	C	2: 84,370,511	Y63C	probably damaging	Het
Cand2	A	G	6: 115,785,132	H173R	possibly damaging	Het
Cap2	T	A	13: 46,637,881	Y175N	possibly damaging	Het
Card14	A	T	11: 119,321,821		probably null	Het
Cd3d	T	A	9: 44,985,001	Y29*	probably null	Het
Cd4	A	G	6: 124,867,688	V378A	possibly damaging	Het
Cluh	A	T	11: 74,660,002	H318L	probably damaging	Het
Clvs1	T	A	4: 9,281,899	D114E	probably benign	Het
Cnot4	T	A	6: 35,023,409	T548S	probably benign	Het
Col18a1	T	C	10: 77,081,154	I114V	unknown	Het
Cr2	G	A	1: 195,154,150	P1278S	possibly damaging	Het
Crebbp	A	T	16: 4,128,697		probably null	Het
D430042O09Rik	A	G	7: 125,820,089	N476S	probably benign	Het
Dnah7a	T	G	1: 53,582,676	K1097Q	possibly damaging	Het
Doc2a	T	A	7: 126,851,807		probably null	Het
Dpp10	A	T	1: 123,905,106	V48E	probably null	Het
Dsg2	A	G	18: 20,601,473	K836R	probably damaging	Het
Egr2	T	C	10: 67,540,027	V164A	probably damaging	Het
Erbin	A	T	13: 103,833,713	S1132T	probably benign	Het
Espn	T	A	4: 152,128,555		probably null	Het
Fam83b	A	G	9: 76,492,022	S600P	probably benign	Het
Fanca	A	T	8: 123,297,812	N425K	possibly damaging	Het
Flot2	C	T	11: 78,058,619	L294F	probably damaging	Het
Frs2	A	G	10: 117,074,554	V301A	probably benign	Het
Fv1	T	A	4: 147,869,161	N61K	possibly damaging	Het
Fxr2	A	G	11: 69,649,833	E339G	possibly damaging	Het
Gck	T	C	11: 5,906,515	Y214C	probably damaging	Het
Gm4858	G	T	3: 93,074,037	A121S	probably benign	Het
Gm5346	T	C	8: 43,627,139	K16R	probably benign	Het
Gm9573	A	T	17: 35,618,708	S1529T	probably benign	Het
Golga3	C	G	5: 110,192,973	T551R	probably damaging	Het
Gorab	A	G	1: 163,397,056	S59P	probably damaging	Het
Gsdme	C	T	6: 50,208,122	V451M	probably damaging	Het
H2-Bl	A	C	17: 36,081,046	I216S	probably damaging	Het
Herc4	T	A	10: 63,245,964	V22E	possibly damaging	Het
Hoxa2	A	T	6: 52,164,596	S17T	probably damaging	Het
Hs3st5	A	G	10: 36,832,886	Y139C	probably damaging	Het
Ism1	G	A	2: 139,746,017	V221I	probably benign	Het
Kalrn	T	G	16: 33,975,738	L1222F	probably damaging	Het
Kdm4c	A	G	4: 74,343,394	D602G	possibly damaging	Het
Ktn1	A	G	14: 47,695,521	K711E	probably damaging	Het
Lce1k	A	T	3: 92,806,818	C20S	unknown	Het
Macf1	A	G	4: 123,456,695	S3792P	probably damaging	Het
Maml3	C	T	3: 51,690,757	M189I	probably benign	Het
Mcc	C	A	18: 44,491,315	E213*	probably null	Het
Mep1a	T	G	17: 43,502,682	I13L	probably benign	Het
Mkrn2	G	T	6: 115,609,601	C16F	probably damaging	Het
Mlh1	C	T	9: 111,228,563	A727T	probably damaging	Het
Naa16	T	C	14: 79,356,491	Y344C	probably damaging	Het
Nebl	T	A	2: 17,452,510	I80F	probably damaging	Het
Nlrc4	T	A	17: 74,445,633	Y585F	probably benign	Het
Nrcam	A	G	12: 44,540,970	K149R	probably damaging	Het
Nufip1	T	A	14: 76,134,847	I467N	probably damaging	Het
Nup133	A	G	8: 123,906,221	I1057T	possibly damaging	Het
Obscn	A	T	11: 58,995,827		probably benign	Het
Olfr1113	T	A	2: 87,213,244	C117*	probably null	Het
Olfr173	A	G	16: 58,796,946	V300A	probably benign	Het
Olfr177	A	C	16: 58,872,511	I213R	probably benign	Het
Pi4k2a	A	T	19: 42,115,938	I380F	probably damaging	Het
Piezo2	A	T	18: 63,074,662	L1426Q	probably null	Het
Pik3cg	A	T	12: 32,204,025	D654E	possibly damaging	Het
Poli	G	T	18: 70,508,987	P714Q	probably damaging	Het
Polr3f	A	G	2: 144,536,310	N201D	probably benign	Het
Ptprz1	A	T	6: 22,959,748	K81N	probably benign	Het
Rbm19	T	C	5: 120,133,883		probably null	Het
Sec24a	C	T	11: 51,736,363	V241I	probably benign	Het
Sgk3	A	G	1: 9,880,342	T160A	possibly damaging	Het
Slc1a4	A	G	11: 20,304,375	I497T	probably benign	Het
Slc26a9	A	T	1: 131,762,794	D512V	probably damaging	Het
Slc43a3	C	T	2: 84,957,740	R489C	probably damaging	Het
Slc5a12	T	A	2: 110,621,744	F327L	probably benign	Het
Slitrk3	A	G	3: 73,049,771	V556A	possibly damaging	Het
Spib	T	C	7: 44,528,857	E180G	probably benign	Het
Spint2	T	A	7: 29,259,408	N128Y	probably damaging	Het
Spx	G	A	6: 142,418,519	G102E	probably benign	Het
Spz1	T	A	13: 92,575,658	E103D	possibly damaging	Het
Sstr2	T	C	11: 113,624,669	I138T	probably benign	Het
Sytl3	T	A	17: 6,733,049	I206N	possibly damaging	Het
Tcaf2	T	C	6: 42,629,857	T388A	probably benign	Het
Thap12	T	C	7: 98,716,365	V580A	possibly damaging	Het
Tlr5	T	A	1: 182,974,347	D405E	probably damaging	Het
Tnxb	T	C	17: 34,671,904	V407A	probably damaging	Het
Tpx2	T	A	2: 152,890,624	M606K	probably benign	Het
Trim43a	T	G	9: 88,584,259	L211R	probably damaging	Het
Trim46	A	T	3: 89,237,701	Y489N	probably damaging	Het
Ttc28	C	T	5: 111,276,322	S1485L	probably benign	Het
Ttll8	T	C	15: 88,914,451	T694A	probably benign	Het
Txnl1	T	C	18: 63,679,514	T70A	probably benign	Het
Ube3a	C	T	7: 59,303,787	A823V	probably damaging	Het
Ubqln5	C	A	7: 104,129,534	V28F	probably damaging	Het
Ulk1	T	A	5: 110,787,151	Q972L	probably damaging	Het
Unc93b1	T	C	19: 3,944,062	Y398H	probably benign	Het
Usp1	A	G	4: 98,934,294	D615G	probably benign	Het
Utp15	A	G	13: 98,250,912	C385R	probably benign	Het
Vmn2r91	T	A	17: 18,135,880	V603D	probably damaging	Het
Whamm	C	T	7: 81,591,771	R277*	probably null	Het
Wnt8a	A	G	18: 34,544,884	D115G	probably damaging	Het
Yjefn3	A	T	8: 69,888,995		probably null	Het
Ywhab	A	T	2: 164,011,887	I95F	probably damaging	Het
Zfp143	C	T	7: 110,061,282		probably benign	Het
Zfp607b	C	G	7: 27,702,524	T135R	possibly damaging	Het
Zfp970	A	G	2: 177,474,870	Q79R	possibly 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
R1965: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

2014-08-25