Mutagenetix > Incidental Mutation

Incidental Mutation 'R2406:Helz'

248020

Institutional Source

Beutler Lab

Gene Symbol

Helz

Ensembl Gene

ENSMUSG00000020721

Gene Name

helicase with zinc finger domain

Synonyms

3110078M01Rik, 9430093I07Rik, 9630002H22Rik

MMRRC Submission

040372-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2406 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

107438756-107584652 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 107577378 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 1910 (A1910T)

Ref Sequence

ENSEMBL: ENSMUSP00000102357 (fasta)

Gene Model

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

AlphaFold

Q6DFV5

Predicted Effect

unknown
Transcript: ENSMUST00000075012
AA Change: A1911T

SMART Domains

Protein: ENSMUSP00000074533
Gene: ENSMUSG00000020721
AA Change: A1911T

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

unknown
Transcript: ENSMUST00000106746
AA Change: A1910T

SMART Domains

Protein: ENSMUSP00000102357
Gene: ENSMUSG00000020721
AA Change: A1910T

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

noncoding transcript
Transcript: ENSMUST00000153080

Meta Mutation Damage Score

0.0629

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.9%
20x: 93.9%

Validation Efficiency

95% (42/44)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300002M23Rik	T	A	17: 35,879,352 (GRCm39)	V230E	probably damaging	Het
Adam22	A	T	5: 8,230,064 (GRCm39)		probably benign	Het
AW554918	A	G	18: 25,473,344 (GRCm39)	I180V	possibly damaging	Het
C9	T	C	15: 6,512,780 (GRCm39)	S301P	possibly damaging	Het
Cdc42bpb	T	C	12: 111,268,558 (GRCm39)	Q1214R	probably benign	Het
Chaf1b	T	C	16: 93,697,043 (GRCm39)	I351T	probably damaging	Het
Clip1	T	C	5: 123,741,723 (GRCm39)	E1177G	probably damaging	Het
Colgalt1	G	A	8: 72,070,312 (GRCm39)	C198Y	probably damaging	Het
Dennd4b	C	T	3: 90,182,795 (GRCm39)	R871C	probably damaging	Het
Efcab3	A	T	11: 104,611,457 (GRCm39)	D433V	probably benign	Het
Eif4ebp1	A	G	8: 27,763,362 (GRCm39)	I52V	probably damaging	Het
Fbxw5	T	C	2: 25,394,195 (GRCm39)	I86T	probably damaging	Het
Gm10650	A	G	3: 127,833,530 (GRCm39)		noncoding transcript	Het
Hsf2	C	T	10: 57,373,642 (GRCm39)	T70I	probably damaging	Het
Ifih1	A	G	2: 62,437,447 (GRCm39)		probably benign	Het
Kdm2a	T	C	19: 4,372,546 (GRCm39)	D933G	probably damaging	Het
Macc1	T	C	12: 119,429,346 (GRCm39)	I832T	probably damaging	Het
Mapk15	T	C	15: 75,870,697 (GRCm39)	S512P	possibly damaging	Het
Mybpc2	A	T	7: 44,171,149 (GRCm39)	I134N	possibly damaging	Het
Myh4	A	G	11: 67,150,000 (GRCm39)	E1853G	probably damaging	Het
Ncoa3	T	C	2: 165,897,279 (GRCm39)	V690A	probably damaging	Het
Nsf	C	T	11: 103,821,578 (GRCm39)	E26K	possibly damaging	Het
Or5b97	A	G	19: 12,878,991 (GRCm39)	V51A	probably benign	Het
Pacsin2	A	T	15: 83,269,313 (GRCm39)		probably benign	Het
Piezo2	A	T	18: 63,155,596 (GRCm39)	L2416Q	probably damaging	Het
Pip5k1c	T	A	10: 81,144,858 (GRCm39)	I233N	probably damaging	Het
Ptcd3	T	C	6: 71,865,631 (GRCm39)	D428G	probably damaging	Het
Ptprf	T	C	4: 118,126,501 (GRCm39)	D84G	possibly damaging	Het
Rasgrf2	T	C	13: 92,120,359 (GRCm39)	D798G	probably benign	Het
Setd7	A	G	3: 51,450,097 (GRCm39)	Y110H	probably damaging	Het
Sgta	T	C	10: 80,887,081 (GRCm39)	I61M	possibly damaging	Het
Shank1	A	G	7: 44,006,376 (GRCm39)	D2031G	possibly damaging	Het
Skint5	A	G	4: 113,799,864 (GRCm39)	Y88H	probably damaging	Het
Spata31f1a	A	T	4: 42,851,696 (GRCm39)	D153E	probably benign	Het
Stox1	T	C	10: 62,499,945 (GRCm39)	I872V	probably benign	Het
Tmc4	A	G	7: 3,674,025 (GRCm39)	F385L	probably benign	Het
Top3a	A	G	11: 60,646,838 (GRCm39)	F258L	probably damaging	Het
Ttn	T	C	2: 76,780,499 (GRCm39)	Y1084C	probably damaging	Het
Ubtf	A	T	11: 102,199,528 (GRCm39)	Y504*	probably null	Het
Wdfy3	T	C	5: 102,036,125 (GRCm39)	T2098A	probably damaging	Het
Wnk2	G	T	13: 49,214,964 (GRCm39)	T1194K	possibly damaging	Het
Zbtb40	T	A	4: 136,725,879 (GRCm39)	E560V	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
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
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'- ACCTGTGGTTAAACCTGCCG -3'
(R):5'- ATATTCTCTGAGGACAGCGCG -3'

Sequencing Primer
(F):5'- GTGGTTAAACCTGCCGCTCTTC -3'
(R):5'- CGAGCGGGGTCACTTGAAG -3'

Posted On

2014-11-11