Mutagenetix > Incidental Mutation

Incidental Mutation 'R5650:Helz'

441384

Institutional Source

Beutler Lab

Gene Symbol

Helz

Ensembl Gene

ENSMUSG00000020721

Gene Name

helicase with zinc finger domain

Synonyms

3110078M01Rik, 9430093I07Rik, 9630002H22Rik

MMRRC Submission

043296-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5650 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

107438756-107584652 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 107485972 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 127 (M127K)

Ref Sequence

ENSEMBL: ENSMUSP00000102357 (fasta)

Gene Model

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

AlphaFold

Q6DFV5

Predicted Effect

probably null
Transcript: ENSMUST00000075012
AA Change: M127K

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000074533
Gene: ENSMUSG00000020721
AA Change: M127K

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 null
Transcript: ENSMUST00000100305
AA Change: M127K

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000097878
Gene: ENSMUSG00000020721
AA Change: M127K

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 null
Transcript: ENSMUST00000106746
AA Change: M127K

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000102357
Gene: ENSMUSG00000020721
AA Change: M127K

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

Coding Region Coverage

1x: 99.5%
3x: 98.9%
10x: 97.6%
20x: 96.0%

Validation Efficiency

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alms1	T	C	6: 85,597,253 (GRCm39)	L693P	probably damaging	Het
Ankrd11	T	C	8: 123,614,136 (GRCm39)	T2524A	probably damaging	Het
Cdr2	A	G	7: 120,557,559 (GRCm39)	I322T	probably damaging	Het
Cep76	A	T	18: 67,758,136 (GRCm39)	C385S	probably damaging	Het
Cercam	C	T	2: 29,771,827 (GRCm39)	S549F	probably damaging	Het
Coro1b	C	T	19: 4,200,610 (GRCm39)	T209I	possibly damaging	Het
Dlec1	G	T	9: 118,972,662 (GRCm39)	E1462*	probably null	Het
Dlgap5	C	T	14: 47,649,196 (GRCm39)	G166D	probably benign	Het
Ep400	C	T	5: 110,843,818 (GRCm39)		probably null	Het
Fam3d	A	T	14: 8,357,142 (GRCm38)	V96E	probably damaging	Het
Fgr	T	G	4: 132,727,533 (GRCm39)	V478G	probably benign	Het
Fmo9	T	A	1: 166,491,015 (GRCm39)	I437F	probably damaging	Het
Gabrd	A	T	4: 155,473,081 (GRCm39)	V64E	probably damaging	Het
Gsap	A	G	5: 21,456,051 (GRCm39)	Y385C	probably damaging	Het
H4c4	A	T	13: 23,765,778 (GRCm39)	N65I	possibly damaging	Het
Hat1	T	C	2: 71,264,378 (GRCm39)	V272A	probably benign	Het
Hsp90b1	G	A	10: 86,529,367 (GRCm39)	A310V	probably damaging	Het
Hspa4	T	C	11: 53,155,919 (GRCm39)	Y662C	probably damaging	Het
Kif7	C	T	7: 79,360,727 (GRCm39)	R216H	probably damaging	Het
Klhl33	A	G	14: 51,129,285 (GRCm39)	I648T	probably benign	Het
Knl1	T	A	2: 118,912,031 (GRCm39)	L1716*	probably null	Het
Lgals9	T	A	11: 78,863,980 (GRCm39)	N55I	probably damaging	Het
Lmo7	A	T	14: 102,136,110 (GRCm39)	T606S	probably damaging	Het
Mdn1	A	G	4: 32,667,467 (GRCm39)		probably null	Het
Mip	A	T	10: 128,061,934 (GRCm39)	I62F	possibly damaging	Het
Naa35	G	A	13: 59,770,680 (GRCm39)		probably benign	Het
Npepl1	T	C	2: 173,963,329 (GRCm39)	F454L	possibly damaging	Het
Or10h28	A	T	17: 33,487,858 (GRCm39)	E53D	probably benign	Het
Or1j21	T	A	2: 36,683,277 (GRCm39)	S10T	probably benign	Het
Or5ae1	T	A	7: 84,565,626 (GRCm39)	I213N	possibly damaging	Het
Or8b1b	A	T	9: 38,376,023 (GRCm39)	K229*	probably null	Het
Oxct1	T	A	15: 4,172,332 (GRCm39)	V466D	probably damaging	Het
Piezo2	T	A	18: 63,144,792 (GRCm39)	I2768F	probably damaging	Het
Pitpnm1	C	A	19: 4,153,319 (GRCm39)	D158E	possibly damaging	Het
Plekho2	T	C	9: 65,464,018 (GRCm39)	N277S	probably benign	Het
Rab33b	T	C	3: 51,400,837 (GRCm39)	Y104H	probably damaging	Het
Rpap1	T	C	2: 119,604,331 (GRCm39)	S473G	probably benign	Het
Serpina1b	T	A	12: 103,694,694 (GRCm39)		probably null	Het
Slc25a17	A	T	15: 81,213,377 (GRCm39)		probably null	Het
Slc43a2	T	C	11: 75,436,633 (GRCm39)	C160R	probably damaging	Het
Slc7a4	G	T	16: 17,393,548 (GRCm39)	L84M	possibly damaging	Het
Slco1a4	T	A	6: 141,755,120 (GRCm39)	I561F	possibly damaging	Het
Sowahc	GGGAGGAGGAGGAGGAGGAGGAGGAGGA	GGGAGGAGGAGGAGGAGGAGGAGGA	10: 59,059,313 (GRCm39)		probably benign	Het
Specc1	T	C	11: 62,008,793 (GRCm39)	I183T	probably damaging	Het
Sucla2	A	G	14: 73,828,569 (GRCm39)	K362E	probably benign	Het
Tcf12	A	T	9: 71,792,584 (GRCm39)		probably null	Het
Tlr11	C	T	14: 50,598,658 (GRCm39)	P215S	probably benign	Het
Tmem41b	A	G	7: 109,574,072 (GRCm39)	S198P	probably damaging	Het
Tubgcp3	A	G	8: 12,698,670 (GRCm39)	F427S	probably damaging	Het
Wdr81	T	A	11: 75,335,574 (GRCm39)	S1752C	probably damaging	Het
Zbtb7a	A	G	10: 80,980,883 (GRCm39)	Y359C	probably damaging	Het
Zfp37	T	C	4: 62,110,002 (GRCm39)	Y354C	probably damaging	Het
Zmpste24	T	A	4: 120,940,074 (GRCm39)	I191F	possibly damaging	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
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'- TTTAAGCTGGTACATCAGGGAGTG -3'
(R):5'- GTCCAACCAGTTGCACAGAAG -3'

Sequencing Primer
(F):5'- GCGACAGCTGAGTCTTTGTTCC -3'
(R):5'- AGTTGCACAGAAGGCCCC -3'

Posted On

2016-11-08