Mutagenetix > Incidental Mutation

Incidental Mutation 'R6373:Helz'

513636

Institutional Source

Beutler Lab

Gene Symbol

Helz

Ensembl Gene

ENSMUSG00000020721

Gene Name

helicase with zinc finger domain

Synonyms

3110078M01Rik, 9430093I07Rik, 9630002H22Rik

MMRRC Submission

044523-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6373 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107438756-107584652 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 107486010 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 140 (T140A)

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: T140A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000074533
Gene: ENSMUSG00000020721
AA Change: T140A

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: T140A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000097878
Gene: ENSMUSG00000020721
AA Change: T140A

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: T140A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000102357
Gene: ENSMUSG00000020721
AA Change: T140A

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

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.2%

Validation Efficiency

95% (37/39)

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd13	T	C	8: 10,038,240 (GRCm39)	L279P	probably damaging	Het
Aldh16a1	C	G	7: 44,795,695 (GRCm39)	V373L	probably benign	Het
Btn2a2	T	C	13: 23,665,999 (GRCm39)	K278E	probably benign	Het
Carns1	G	T	19: 4,216,515 (GRCm39)	Q556K	probably benign	Het
Chd1	A	T	17: 15,958,898 (GRCm39)	E650V	probably damaging	Het
Cobl	A	G	11: 12,203,118 (GRCm39)	S1195P	probably damaging	Het
Deup1	T	C	9: 15,472,638 (GRCm39)	H464R	probably damaging	Het
Eva1a	T	C	6: 82,068,847 (GRCm39)	L58S	probably damaging	Het
Fign	A	C	2: 63,809,989 (GRCm39)	M427R	probably benign	Het
Gm6309	A	T	5: 146,107,085 (GRCm39)	I87N	probably damaging	Het
H2ac7	A	G	13: 23,759,027 (GRCm39)	K128R	probably benign	Het
Helz2	C	T	2: 180,875,260 (GRCm39)	E1745K	probably damaging	Het
Kif16b	A	T	2: 142,541,618 (GRCm39)	H1227Q	possibly damaging	Het
Mab21l1	A	T	3: 55,690,505 (GRCm39)	I31F	possibly damaging	Het
Mex3c	T	C	18: 73,723,065 (GRCm39)	M386T	probably benign	Het
Myh11	T	A	16: 14,022,994 (GRCm39)	I1644F	possibly damaging	Het
Nav2	C	T	7: 49,102,923 (GRCm39)	P513S	probably damaging	Het
Ncoa3	C	T	2: 165,901,267 (GRCm39)	S953F	possibly damaging	Het
Nmt2	A	G	2: 3,325,988 (GRCm39)	T462A	probably benign	Het
Nrxn2	T	C	19: 6,559,860 (GRCm39)	I163T	probably damaging	Het
Nrxn3	G	C	12: 89,943,237 (GRCm39)	G122R	probably damaging	Het
Or1e26	A	G	11: 73,479,724 (GRCm39)	V280A	probably benign	Het
Or5d20-ps1	T	C	2: 87,932,189 (GRCm39)	I47M	possibly damaging	Het
Parg	T	G	14: 31,931,454 (GRCm39)		probably null	Het
Pcdhb7	T	A	18: 37,475,264 (GRCm39)	C133*	probably null	Het
Ppihl	A	G	5: 44,070,893 (GRCm39)	T127A	probably damaging	Het
Rigi	A	G	4: 40,216,487 (GRCm39)	Y504H	possibly damaging	Het
Rpe	T	C	1: 66,755,139 (GRCm39)	F174L	probably benign	Het
Rxrb	A	G	17: 34,252,533 (GRCm39)	N40S	probably benign	Het
Ryr3	C	A	2: 112,486,889 (GRCm39)	G3840W	probably damaging	Het
Smurf2	A	G	11: 106,724,595 (GRCm39)	L529P	probably damaging	Het
Sntg2	C	T	12: 30,308,040 (GRCm39)	R215H	probably benign	Het
Spata20	A	G	11: 94,374,226 (GRCm39)	V348A	probably benign	Het
Spink5	A	G	18: 44,123,739 (GRCm39)	E342G	probably damaging	Het
St3gal1	A	G	15: 66,983,195 (GRCm39)	V187A	possibly damaging	Het
Syce1l	T	A	8: 114,376,143 (GRCm39)	M31K	probably benign	Het
Ttn	C	T	2: 76,618,960 (GRCm39)	V14394I	probably damaging	Het
Twnk	G	A	19: 44,997,820 (GRCm39)	V450M	probably damaging	Het
Vangl1	T	C	3: 102,065,764 (GRCm39)	K407R	probably benign	Het
Vmn1r19	T	C	6: 57,382,317 (GRCm39)	I290T	unknown	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
R4449:Helz	UTSW	11	107,494,989 (GRCm39)	missense	probably benign	0.01
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
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'- AGCTCCTTAGTGACAGAGTGG -3'
(R):5'- TTGCCCACACATGTATGAATACAC -3'

Sequencing Primer
(F):5'- GCTGTGTGGAGGCAGGGAC -3'
(R):5'- CCACACACATATATACATGAGGAGG -3'

Posted On

2018-04-27