Mutagenetix > Incidental Mutation

Incidental Mutation 'R8729:Helz'

662663

Institutional Source

Beutler Lab

Gene Symbol

Helz

Ensembl Gene

ENSMUSG00000020721

Gene Name

helicase with zinc finger domain

Synonyms

9630002H22Rik, 3110078M01Rik, 9430093I07Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8729 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107547930-107693826 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to T at 107637928 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000074533 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075012] [ENSMUST00000100305] [ENSMUST00000106746] [ENSMUST00000133862]

AlphaFold

Q6DFV5

Predicted Effect

probably null
Transcript: ENSMUST00000075012

SMART Domains

Protein: ENSMUSP00000074533
Gene: ENSMUSG00000020721

Domain	Start	End	E-Value	Type
SCOP:d1ihga1	6	84	5e-3	SMART
low complexity region	129	146	N/A	INTRINSIC
ZnF_C3H1	178	205	2.61e-4	SMART
Pfam:ResIII	639	807	6.7e-8	PFAM
Pfam:AAA_11	641	768	2.3e-14	PFAM
Pfam:AAA_30	641	838	2.6e-11	PFAM
Pfam:AAA_19	648	729	5.5e-11	PFAM
Pfam:AAA_11	758	834	3.8e-18	PFAM
Pfam:AAA_12	841	1053	7.4e-38	PFAM
low complexity region	1165	1176	N/A	INTRINSIC
low complexity region	1360	1448	N/A	INTRINSIC
low complexity region	1466	1487	N/A	INTRINSIC
low complexity region	1557	1568	N/A	INTRINSIC
low complexity region	1631	1647	N/A	INTRINSIC
low complexity region	1716	1736	N/A	INTRINSIC
low complexity region	1926	1933	N/A	INTRINSIC
low complexity region	1942	1957	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000100305

SMART Domains

Protein: ENSMUSP00000097878
Gene: ENSMUSG00000020721

Domain	Start	End	E-Value	Type
SCOP:d1ihga1	6	84	5e-3	SMART
low complexity region	129	146	N/A	INTRINSIC
ZnF_C3H1	178	205	2.61e-4	SMART
Pfam:AAA_11	641	833	2.7e-31	PFAM
Pfam:AAA_30	641	837	1.7e-10	PFAM
Pfam:AAA_19	648	727	6.3e-9	PFAM
Pfam:AAA_12	840	1052	3.4e-36	PFAM
low complexity region	1164	1175	N/A	INTRINSIC
low complexity region	1359	1447	N/A	INTRINSIC
low complexity region	1465	1486	N/A	INTRINSIC
low complexity region	1556	1567	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106746

SMART Domains

Protein: ENSMUSP00000102357
Gene: ENSMUSG00000020721

Domain	Start	End	E-Value	Type
SCOP:d1ihga1	6	84	5e-3	SMART
low complexity region	129	146	N/A	INTRINSIC
ZnF_C3H1	178	205	2.61e-4	SMART
Pfam:AAA_11	641	833	1e-31	PFAM
Pfam:AAA_30	641	837	8.3e-11	PFAM
Pfam:AAA_19	648	727	2.2e-9	PFAM
Pfam:AAA_12	840	1052	1.7e-36	PFAM
low complexity region	1164	1175	N/A	INTRINSIC
low complexity region	1359	1447	N/A	INTRINSIC
low complexity region	1465	1486	N/A	INTRINSIC
low complexity region	1556	1567	N/A	INTRINSIC
low complexity region	1630	1646	N/A	INTRINSIC
low complexity region	1715	1735	N/A	INTRINSIC
low complexity region	1925	1932	N/A	INTRINSIC
low complexity region	1941	1956	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000133862

SMART Domains

Protein: ENSMUSP00000117498
Gene: ENSMUSG00000020721

Domain	Start	End	E-Value	Type
Pfam:AAA_11	68	152	2.1e-19	PFAM
Pfam:AAA_12	159	371	1.5e-36	PFAM
low complexity region	483	494	N/A	INTRINSIC
low complexity region	678	766	N/A	INTRINSIC
low complexity region	784	805	N/A	INTRINSIC
low complexity region	875	886	N/A	INTRINSIC

Meta Mutation Damage Score

0.9505

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 97.9%

Validation Efficiency

100% (55/55)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] HELZ is a member of the superfamily I class of RNA helicases. RNA helicases alter the conformation of RNA by unwinding double-stranded regions, thereby altering the biologic activity of the RNA molecule and regulating access to other proteins (Wagner et al., 1999 [PubMed 10471385]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a gene-trapped allele are viable, fertile and phenotypically normal with no apparent skeletal defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
8430408G22Rik	C	A	6: 116,651,801	P35H	probably damaging	Het
Adam4	A	T	12: 81,421,402	Y148*	probably null	Het
Ank3	A	G	10: 70,002,598	D1812G	possibly damaging	Het
Ankrd17	C	T	5: 90,295,593	C405Y	probably benign	Het
Ankrd61	A	G	5: 143,890,985	Y391H	probably benign	Het
Calcb	A	C	7: 114,720,193	E70A	probably benign	Het
Ccr1	T	C	9: 123,963,794	K233R	probably benign	Het
Ccz1	T	C	5: 144,011,492	D115G	probably damaging	Het
Col14a1	T	A	15: 55,447,497	L1203*	probably null	Het
Csmd2	G	A	4: 128,462,845	D1648N		Het
Csn1s1	T	C	5: 87,677,139		probably null	Het
Eif2ak3	C	A	6: 70,844,880	P52Q	probably benign	Het
Fam129b	T	A	2: 32,909,934	L91Q	probably damaging	Het
Galnt18	T	C	7: 111,519,991	E441G	probably null	Het
Gm21671	A	G	5: 25,953,180	V58A	probably damaging	Het
Gpat2	C	A	2: 127,433,819	Q506K	probably damaging	Het
Gramd1a	C	A	7: 31,143,823	R20L	possibly damaging	Het
Hif1a	A	G	12: 73,944,128	N725D	probably damaging	Het
Ighv3-3	A	T	12: 114,196,632	W53R	possibly damaging	Het
Kat2a	T	C	11: 100,710,511	K331R	probably benign	Het
Klk1b4	T	A	7: 44,207,460	F3I	probably damaging	Het
Krt78	T	G	15: 101,947,020	Q785H	probably damaging	Het
Lsm11	C	T	11: 45,944,900	E5K	possibly damaging	Het
Luzp2	A	G	7: 55,167,237	K145R	probably damaging	Het
Man2b2	T	C	5: 36,816,118	T506A	probably benign	Het
Msrb3	A	C	10: 120,852,069	C34G	probably null	Het
Muc16	T	C	9: 18,660,050	D391G	unknown	Het
Mybpc2	C	T	7: 44,506,187	V881M	probably damaging	Het
Myh15	A	G	16: 49,061,488	K31R	probably damaging	Het
Ndnf	A	T	6: 65,703,774	K346*	probably null	Het
Nfs1	G	A	2: 156,123,807	T118I	probably benign	Het
Nlrp9c	T	G	7: 26,372,003	K893N	probably benign	Het
Nmd3	A	T	3: 69,748,349	K454N	possibly damaging	Het
Olfr290	T	C	7: 84,916,315	C179R	probably damaging	Het
Pcdhb9	C	A	18: 37,402,586	D544E	possibly damaging	Het
Pck1	A	G	2: 173,156,073	I312V	probably damaging	Het
Pkd2l2	G	A	18: 34,433,301	V522I	probably benign	Het
Polr3c	C	T	3: 96,727,480		probably benign	Het
Prkd2	T	A	7: 16,849,127	H271Q	probably damaging	Het
Rpp21	A	G	17: 36,256,035	S59P	probably benign	Het
Rxfp4	T	A	3: 88,651,998	N382I	unknown	Het
Sirt1	A	G	10: 63,320,926	F642L	probably damaging	Het
Sp2	T	C	11: 96,961,273	D275G	possibly damaging	Het
Srp72	C	T	5: 76,994,158	T414I	probably benign	Het
Syne1	T	A	10: 5,229,275	M4400L	probably benign	Het
Tbx15	A	T	3: 99,313,060	H156L	possibly damaging	Het
Tbxas1	G	T	6: 39,001,338	M140I	probably benign	Het
Tcof1	G	T	18: 60,829,073	P695T	unknown	Het
Tmprss9	A	T	10: 80,890,343	M476L	probably benign	Het
Trat1	A	T	16: 48,742,228	I73N	probably damaging	Het
Trp53bp2	A	T	1: 182,449,022	E856V	probably benign	Het
Ttc28	T	A	5: 111,235,643		probably null	Het
Ttn	AC	A	2: 76,919,184		probably null	Het
Twf1	T	C	15: 94,581,331	N216D	probably benign	Het
Unc80	C	A	1: 66,608,490	H1530N	probably benign	Het
Vmn1r235	A	T	17: 21,261,613	M67L	probably benign	Het
Vmn2r111	A	T	17: 22,548,258	Y753N	probably damaging	Het
Zkscan5	T	A	5: 145,220,261	N524K	probably benign	Het

Other mutations in Helz

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00971:Helz	APN	11	107663653	missense	possibly damaging	0.90
IGL01419:Helz	APN	11	107686514	missense	unknown
IGL01864:Helz	APN	11	107602354	missense	probably damaging	0.98
IGL01999:Helz	APN	11	107602928	splice site	probably benign
IGL02938:Helz	APN	11	107686438	missense	unknown
IGL03157:Helz	APN	11	107577888	missense	possibly damaging	0.95
IGL03374:Helz	APN	11	107620147	missense	probably damaging	0.98
R0058:Helz	UTSW	11	107672558	unclassified	probably benign
R0058:Helz	UTSW	11	107672558	unclassified	probably benign
R0112:Helz	UTSW	11	107672948	unclassified	probably benign
R0243:Helz	UTSW	11	107637914	missense	possibly damaging	0.85
R0328:Helz	UTSW	11	107604348	missense	probably benign	0.30
R0578:Helz	UTSW	11	107686400	missense	unknown
R0928:Helz	UTSW	11	107626693	missense	probably damaging	0.99
R1428:Helz	UTSW	11	107592840	splice site	probably benign
R1493:Helz	UTSW	11	107613925	missense	probably benign	0.15
R1494:Helz	UTSW	11	107604063	splice site	probably benign
R1541:Helz	UTSW	11	107670048	missense	probably benign	0.39
R1619:Helz	UTSW	11	107636279	nonsense	probably null
R1809:Helz	UTSW	11	107599171	missense	possibly damaging	0.87
R1942:Helz	UTSW	11	107602492	missense	probably benign	0.20
R2095:Helz	UTSW	11	107646146	missense	probably damaging	1.00
R2133:Helz	UTSW	11	107670484	missense	unknown
R2167:Helz	UTSW	11	107672964	unclassified	probably benign
R2406:Helz	UTSW	11	107686552	missense	unknown
R2571:Helz	UTSW	11	107613952	missense	probably benign	0.05
R2858:Helz	UTSW	11	107672927	unclassified	probably benign
R3927:Helz	UTSW	11	107685292	missense	unknown
R4449:Helz	UTSW	11	107604163	missense	probably benign	0.01
R4453:Helz	UTSW	11	107672629	nonsense	probably null
R4583:Helz	UTSW	11	107646069	missense	probably damaging	1.00
R4684:Helz	UTSW	11	107649145	missense	probably damaging	1.00
R4714:Helz	UTSW	11	107626716	critical splice donor site	probably null
R4875:Helz	UTSW	11	107637734	intron	probably benign
R4924:Helz	UTSW	11	107602339	missense	probably damaging	1.00
R4930:Helz	UTSW	11	107620168	missense	probably damaging	0.99
R5078:Helz	UTSW	11	107656096	missense	probably damaging	1.00
R5446:Helz	UTSW	11	107632204	missense	probably damaging	1.00
R5535:Helz	UTSW	11	107646120	missense	probably damaging	0.98
R5650:Helz	UTSW	11	107595146	missense	probably null	0.96
R5714:Helz	UTSW	11	107626521	splice site	probably null
R5784:Helz	UTSW	11	107670481	missense	unknown
R5998:Helz	UTSW	11	107685534	nonsense	probably null
R6042:Helz	UTSW	11	107614120	critical splice donor site	probably null
R6089:Helz	UTSW	11	107595137	critical splice acceptor site	probably null
R6137:Helz	UTSW	11	107619060	missense	possibly damaging	0.83
R6373:Helz	UTSW	11	107595184	missense	probably benign	0.01
R6392:Helz	UTSW	11	107602341	missense	possibly damaging	0.80
R6618:Helz	UTSW	11	107599150	missense	probably benign	0.01
R6644:Helz	UTSW	11	107632261	missense	possibly damaging	0.74
R6811:Helz	UTSW	11	107619318	critical splice donor site	probably null
R6874:Helz	UTSW	11	107663634	missense	probably damaging	0.97
R6911:Helz	UTSW	11	107619225	missense	probably benign	0.01
R7039:Helz	UTSW	11	107619318	critical splice donor site	probably null
R7061:Helz	UTSW	11	107649177	missense	possibly damaging	0.83
R7438:Helz	UTSW	11	107662030	missense	probably damaging	0.98
R7464:Helz	UTSW	11	107636278	missense	probably damaging	1.00
R7513:Helz	UTSW	11	107656115	missense	probably damaging	0.99
R7559:Helz	UTSW	11	107600278	missense	possibly damaging	0.67
R7734:Helz	UTSW	11	107685422	missense	unknown
R7780:Helz	UTSW	11	107637863	missense	probably damaging	1.00
R7982:Helz	UTSW	11	107626630	missense	possibly damaging	0.84
R8024:Helz	UTSW	11	107686421	missense	unknown
R8181:Helz	UTSW	11	107672573	missense	unknown
R8346:Helz	UTSW	11	107672573	missense	unknown
R8807:Helz	UTSW	11	107603009	missense	probably damaging	1.00
R8821:Helz	UTSW	11	107635093	missense	probably damaging	0.99
R8891:Helz	UTSW	11	107662016	missense	probably damaging	0.99
R8909:Helz	UTSW	11	107666008	missense	possibly damaging	0.94
R8922:Helz	UTSW	11	107649159	missense	possibly damaging	0.90
R8926:Helz	UTSW	11	107672683	missense	unknown
R8988:Helz	UTSW	11	107604253	missense	probably damaging	0.99
R9053:Helz	UTSW	11	107672935	missense	unknown
R9056:Helz	UTSW	11	107656193	missense	possibly damaging	0.84
R9099:Helz	UTSW	11	107632215	missense	probably damaging	1.00
R9122:Helz	UTSW	11	107666004	missense	probably benign	0.17
R9194:Helz	UTSW	11	107670287	nonsense	probably null
R9220:Helz	UTSW	11	107670047	missense	probably benign	0.11
R9223:Helz	UTSW	11	107619092	missense	probably benign	0.17
R9242:Helz	UTSW	11	107632327	missense	probably damaging	1.00
R9644:Helz	UTSW	11	107672861	missense	unknown
R9761:Helz	UTSW	11	107670048	nonsense	probably null
X0065:Helz	UTSW	11	107670447	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AGACTTGGCTGACAGATGC -3'
(R):5'- GCGCTATGACAGAATACGTTGG -3'

Sequencing Primer
(F):5'- AGATGCTCTGTTCTGCTTCC -3'
(R):5'- GCTATGACAGAATACGTTGGCTTTTC -3'

Posted On

2021-03-08