Mutagenetix > Incidental Mutation

Incidental Mutation 'R4449:Helz'

328898

Institutional Source

Beutler Lab

Gene Symbol

Helz

Ensembl Gene

ENSMUSG00000020721

Gene Name

helicase with zinc finger domain

Synonyms

3110078M01Rik, 9430093I07Rik, 9630002H22Rik

MMRRC Submission

041710-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4449 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107438756-107584652 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 107494989 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 321 (V321A)

Ref Sequence

ENSEMBL: ENSMUSP00000102357 (fasta)

Gene Model

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

AlphaFold

Q6DFV5

Predicted Effect

probably benign
Transcript: ENSMUST00000075012
AA Change: V321A

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000074533
Gene: ENSMUSG00000020721
AA Change: V321A

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
AA Change: V321A

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000097878
Gene: ENSMUSG00000020721
AA Change: V321A

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
AA Change: V321A

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000102357
Gene: ENSMUSG00000020721
AA Change: V321A

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

Meta Mutation Damage Score

0.0589

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.9%

Validation Efficiency

98% (47/48)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arfgap3	A	T	15: 83,218,759 (GRCm39)	Y105N	probably damaging	Het
Arid3b	T	A	9: 57,705,404 (GRCm39)	K266*	probably null	Het
Bend3	A	G	10: 43,388,079 (GRCm39)	E824G	possibly damaging	Het
Bpifb6	A	G	2: 153,748,688 (GRCm39)	E228G	possibly damaging	Het
Cadm1	T	A	9: 47,725,286 (GRCm39)		probably benign	Het
Cadm1	C	T	9: 47,441,735 (GRCm39)	A22V	possibly damaging	Het
Cntrob	C	A	11: 69,196,375 (GRCm39)	D687Y	probably benign	Het
Dap3	A	T	3: 88,857,185 (GRCm39)		probably benign	Het
Ddc	T	C	11: 11,785,802 (GRCm39)	D295G	probably damaging	Het
Fut10	T	A	8: 31,726,285 (GRCm39)	Y347N	probably damaging	Het
Galnt2	A	G	8: 125,022,116 (GRCm39)	D14G	probably benign	Het
Gm10722	A	C	9: 3,001,041 (GRCm39)	Y39S	probably benign	Het
Hnrnpul1	T	C	7: 25,421,709 (GRCm39)		probably benign	Het
Hsdl2	T	A	4: 59,617,692 (GRCm39)	I353K	possibly damaging	Het
Igkv3-2	G	A	6: 70,675,825 (GRCm39)	A45T	probably benign	Het
Kcnh6	A	G	11: 105,909,762 (GRCm39)	Y429C	probably damaging	Het
Luzp1	T	A	4: 136,268,174 (GRCm39)	N132K	probably damaging	Het
Mlycd	T	A	8: 120,137,144 (GRCm39)	Y455N	probably damaging	Het
Myl7	C	T	11: 5,847,354 (GRCm39)	D115N	probably damaging	Het
Or52s1	A	T	7: 102,861,687 (GRCm39)	I196F	probably benign	Het
Pcdh7	A	G	5: 57,877,827 (GRCm39)	T461A	probably damaging	Het
Pi4kb	C	T	3: 94,892,046 (GRCm39)	S254L	probably benign	Het
Pitpnc1	A	G	11: 107,107,535 (GRCm39)	V257A	probably benign	Het
Prpf40b	A	G	15: 99,212,544 (GRCm39)	D596G	probably damaging	Het
Rngtt	T	C	4: 33,330,865 (GRCm39)	F156S	probably damaging	Het
Sema3c	A	G	5: 17,781,844 (GRCm39)		probably benign	Het
Shisa6	T	C	11: 66,416,244 (GRCm39)	T183A	probably benign	Het
Skint3	T	A	4: 112,127,206 (GRCm39)	V287E	possibly damaging	Het
Slc15a4	A	G	5: 127,681,600 (GRCm39)		probably null	Het
Slc17a3	A	T	13: 24,040,715 (GRCm39)	S392C	probably damaging	Het
Snx14	T	C	9: 88,305,052 (GRCm39)	I81V	probably benign	Het
Tdrd6	C	T	17: 43,940,626 (GRCm39)	G141S	probably benign	Het
Trappc12	A	T	12: 28,797,234 (GRCm39)	D99E	probably benign	Het
Trim34b	T	C	7: 103,984,935 (GRCm39)	C318R	probably benign	Het
Ttc39a	T	C	4: 109,299,500 (GRCm39)	I449T	possibly damaging	Het
Twsg1	A	C	17: 66,233,305 (GRCm39)	V215G	possibly damaging	Het
Ubqlnl	C	T	7: 103,798,925 (GRCm39)	V191M	probably benign	Het
Ubr1	A	G	2: 120,776,862 (GRCm39)	V293A	possibly damaging	Het
Unk	G	A	11: 115,944,460 (GRCm39)	G404S	probably damaging	Het
Virma	T	C	4: 11,498,828 (GRCm39)		probably null	Het
Vps13b	T	C	15: 35,876,939 (GRCm39)	V2864A	possibly damaging	Het
Wdfy4	T	A	14: 32,818,040 (GRCm39)	R1492W	probably damaging	Het
Zcchc3	G	C	2: 152,256,642 (GRCm39)	P19R	probably benign	Het

Other mutations in Helz

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00971:Helz	APN	11	107,554,479 (GRCm39)	missense	possibly damaging	0.90
IGL01419:Helz	APN	11	107,577,340 (GRCm39)	missense	unknown
IGL01864:Helz	APN	11	107,493,180 (GRCm39)	missense	probably damaging	0.98
IGL01999:Helz	APN	11	107,493,754 (GRCm39)	splice site	probably benign
IGL02938:Helz	APN	11	107,577,264 (GRCm39)	missense	unknown
IGL03157:Helz	APN	11	107,468,714 (GRCm39)	missense	possibly damaging	0.95
IGL03374:Helz	APN	11	107,510,973 (GRCm39)	missense	probably damaging	0.98
R0058:Helz	UTSW	11	107,563,384 (GRCm39)	unclassified	probably benign
R0058:Helz	UTSW	11	107,563,384 (GRCm39)	unclassified	probably benign
R0112:Helz	UTSW	11	107,563,774 (GRCm39)	unclassified	probably benign
R0243:Helz	UTSW	11	107,528,740 (GRCm39)	missense	possibly damaging	0.85
R0328:Helz	UTSW	11	107,495,174 (GRCm39)	missense	probably benign	0.30
R0578:Helz	UTSW	11	107,577,226 (GRCm39)	missense	unknown
R0928:Helz	UTSW	11	107,517,519 (GRCm39)	missense	probably damaging	0.99
R1428:Helz	UTSW	11	107,483,666 (GRCm39)	splice site	probably benign
R1493:Helz	UTSW	11	107,504,751 (GRCm39)	missense	probably benign	0.15
R1494:Helz	UTSW	11	107,494,889 (GRCm39)	splice site	probably benign
R1541:Helz	UTSW	11	107,560,874 (GRCm39)	missense	probably benign	0.39
R1619:Helz	UTSW	11	107,527,105 (GRCm39)	nonsense	probably null
R1809:Helz	UTSW	11	107,489,997 (GRCm39)	missense	possibly damaging	0.87
R1942:Helz	UTSW	11	107,493,318 (GRCm39)	missense	probably benign	0.20
R2095:Helz	UTSW	11	107,536,972 (GRCm39)	missense	probably damaging	1.00
R2133:Helz	UTSW	11	107,561,310 (GRCm39)	missense	unknown
R2167:Helz	UTSW	11	107,563,790 (GRCm39)	unclassified	probably benign
R2406:Helz	UTSW	11	107,577,378 (GRCm39)	missense	unknown
R2571:Helz	UTSW	11	107,504,778 (GRCm39)	missense	probably benign	0.05
R2858:Helz	UTSW	11	107,563,753 (GRCm39)	unclassified	probably benign
R3927:Helz	UTSW	11	107,576,118 (GRCm39)	missense	unknown
R4453:Helz	UTSW	11	107,563,455 (GRCm39)	nonsense	probably null
R4583:Helz	UTSW	11	107,536,895 (GRCm39)	missense	probably damaging	1.00
R4684:Helz	UTSW	11	107,539,971 (GRCm39)	missense	probably damaging	1.00
R4714:Helz	UTSW	11	107,517,542 (GRCm39)	critical splice donor site	probably null
R4875:Helz	UTSW	11	107,528,560 (GRCm39)	intron	probably benign
R4924:Helz	UTSW	11	107,493,165 (GRCm39)	missense	probably damaging	1.00
R4930:Helz	UTSW	11	107,510,994 (GRCm39)	missense	probably damaging	0.99
R5078:Helz	UTSW	11	107,546,922 (GRCm39)	missense	probably damaging	1.00
R5446:Helz	UTSW	11	107,523,030 (GRCm39)	missense	probably damaging	1.00
R5535:Helz	UTSW	11	107,536,946 (GRCm39)	missense	probably damaging	0.98
R5650:Helz	UTSW	11	107,485,972 (GRCm39)	missense	probably null	0.96
R5714:Helz	UTSW	11	107,517,347 (GRCm39)	splice site	probably null
R5784:Helz	UTSW	11	107,561,307 (GRCm39)	missense	unknown
R5998:Helz	UTSW	11	107,576,360 (GRCm39)	nonsense	probably null
R6042:Helz	UTSW	11	107,504,946 (GRCm39)	critical splice donor site	probably null
R6089:Helz	UTSW	11	107,485,963 (GRCm39)	critical splice acceptor site	probably null
R6137:Helz	UTSW	11	107,509,886 (GRCm39)	missense	possibly damaging	0.83
R6373:Helz	UTSW	11	107,486,010 (GRCm39)	missense	probably benign	0.01
R6392:Helz	UTSW	11	107,493,167 (GRCm39)	missense	possibly damaging	0.80
R6618:Helz	UTSW	11	107,489,976 (GRCm39)	missense	probably benign	0.01
R6644:Helz	UTSW	11	107,523,087 (GRCm39)	missense	possibly damaging	0.74
R6811:Helz	UTSW	11	107,510,144 (GRCm39)	critical splice donor site	probably null
R6874:Helz	UTSW	11	107,554,460 (GRCm39)	missense	probably damaging	0.97
R6911:Helz	UTSW	11	107,510,051 (GRCm39)	missense	probably benign	0.01
R7039:Helz	UTSW	11	107,510,144 (GRCm39)	critical splice donor site	probably null
R7061:Helz	UTSW	11	107,540,003 (GRCm39)	missense	possibly damaging	0.83
R7438:Helz	UTSW	11	107,552,856 (GRCm39)	missense	probably damaging	0.98
R7464:Helz	UTSW	11	107,527,104 (GRCm39)	missense	probably damaging	1.00
R7513:Helz	UTSW	11	107,546,941 (GRCm39)	missense	probably damaging	0.99
R7559:Helz	UTSW	11	107,491,104 (GRCm39)	missense	possibly damaging	0.67
R7734:Helz	UTSW	11	107,576,248 (GRCm39)	missense	unknown
R7780:Helz	UTSW	11	107,528,689 (GRCm39)	missense	probably damaging	1.00
R7982:Helz	UTSW	11	107,517,456 (GRCm39)	missense	possibly damaging	0.84
R8024:Helz	UTSW	11	107,577,247 (GRCm39)	missense	unknown
R8181:Helz	UTSW	11	107,563,399 (GRCm39)	missense	unknown
R8346:Helz	UTSW	11	107,563,399 (GRCm39)	missense	unknown
R8729:Helz	UTSW	11	107,528,754 (GRCm39)	critical splice donor site	probably null
R8807:Helz	UTSW	11	107,493,835 (GRCm39)	missense	probably damaging	1.00
R8821:Helz	UTSW	11	107,525,919 (GRCm39)	missense	probably damaging	0.99
R8891:Helz	UTSW	11	107,552,842 (GRCm39)	missense	probably damaging	0.99
R8909:Helz	UTSW	11	107,556,834 (GRCm39)	missense	possibly damaging	0.94
R8922:Helz	UTSW	11	107,539,985 (GRCm39)	missense	possibly damaging	0.90
R8926:Helz	UTSW	11	107,563,509 (GRCm39)	missense	unknown
R8988:Helz	UTSW	11	107,495,079 (GRCm39)	missense	probably damaging	0.99
R9053:Helz	UTSW	11	107,563,761 (GRCm39)	missense	unknown
R9056:Helz	UTSW	11	107,547,019 (GRCm39)	missense	possibly damaging	0.84
R9099:Helz	UTSW	11	107,523,041 (GRCm39)	missense	probably damaging	1.00
R9122:Helz	UTSW	11	107,556,830 (GRCm39)	missense	probably benign	0.17
R9194:Helz	UTSW	11	107,561,113 (GRCm39)	nonsense	probably null
R9220:Helz	UTSW	11	107,560,873 (GRCm39)	missense	probably benign	0.11
R9223:Helz	UTSW	11	107,509,918 (GRCm39)	missense	probably benign	0.17
R9242:Helz	UTSW	11	107,523,153 (GRCm39)	missense	probably damaging	1.00
R9644:Helz	UTSW	11	107,563,687 (GRCm39)	missense	unknown
R9761:Helz	UTSW	11	107,560,874 (GRCm39)	nonsense	probably null
X0065:Helz	UTSW	11	107,561,273 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CTTAGGAACATGGCGTGTAGC -3'
(R):5'- AGCTGCGTCAATCATCACCC -3'

Sequencing Primer
(F):5'- TCAGGGAATATTTTCATCGAAGAGCC -3'
(R):5'- ACCCTCTGCATGAGTACTGG -3'

Posted On

2015-07-21