Mutagenetix > Incidental Mutation

Incidental Mutation 'R2256:Drc7'

243387

Institutional Source

Beutler Lab

Gene Symbol

Drc7

Ensembl Gene

ENSMUSG00000031786

Gene Name

dynein regulatory complex subunit 7

Synonyms

Ccdc135, SRG-L, LOC330830

MMRRC Submission

040256-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2256 (G1)

Quality Score

158

Status

Validated

Chromosome

Chromosomal Location

95781731-95804769 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 95801637 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 666 (H666L)

Ref Sequence

ENSEMBL: ENSMUSP00000053972 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058479]

AlphaFold

Q6V3W6

Predicted Effect

probably benign
Transcript: ENSMUST00000058479
AA Change: H666L

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000053972
Gene: ENSMUSG00000031786
AA Change: H666L

Domain	Start	End	E-Value	Type
coiled coil region	1	33	N/A	INTRINSIC
low complexity region	229	246	N/A	INTRINSIC
coiled coil region	258	295	N/A	INTRINSIC
low complexity region	388	411	N/A	INTRINSIC
low complexity region	544	555	N/A	INTRINSIC
low complexity region	695	710	N/A	INTRINSIC
low complexity region	798	809	N/A	INTRINSIC
low complexity region	848	864	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212980

Meta Mutation Damage Score

0.0686

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.7%
20x: 96.3%

Validation Efficiency

98% (97/99)

Allele List at MGI

Other mutations in this stock

Total: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	T	C	5: 9,008,431 (GRCm39)	S1200P	probably damaging	Het
Acadsb	A	G	7: 131,045,382 (GRCm39)	Y438C	probably benign	Het
Acp7	A	C	7: 28,313,838 (GRCm39)	W399G	probably damaging	Het
Actr3b	A	G	5: 26,027,403 (GRCm39)	T113A	possibly damaging	Het
Adgrv1	T	C	13: 81,654,259 (GRCm39)	D2204G	probably benign	Het
Ago1	A	G	4: 126,335,704 (GRCm39)	V669A	possibly damaging	Het
Ang5	T	A	14: 44,199,978 (GRCm39)	L14Q	probably null	Het
Aoc1	T	C	6: 48,883,374 (GRCm39)	Y417H	possibly damaging	Het
Arhgap32	T	C	9: 32,158,793 (GRCm39)	I186T	probably damaging	Het
Atf2	A	T	2: 73,675,855 (GRCm39)		probably null	Het
Atg4a	A	G	X: 139,890,984 (GRCm39)	I91V	probably benign	Het
Atp7b	T	G	8: 22,488,282 (GRCm39)	T1102P	probably damaging	Het
Bend5	A	C	4: 111,288,207 (GRCm39)		probably benign	Het
Camkk2	T	C	5: 122,884,398 (GRCm39)	D341G	probably damaging	Het
Cast	T	A	13: 74,888,024 (GRCm39)	I208L	probably damaging	Het
Ccdc141	A	T	2: 76,962,606 (GRCm39)	W113R	probably damaging	Het
Cdk14	T	A	5: 4,938,924 (GRCm39)	M433L	probably benign	Het
Cel	A	G	2: 28,451,204 (GRCm39)	F51S	probably damaging	Het
Cenpc1	A	G	5: 86,164,062 (GRCm39)	L853S	probably damaging	Het
Cep162	C	A	9: 87,088,967 (GRCm39)	D972Y	probably damaging	Het
Cimip3	AC	A	17: 47,744,348 (GRCm39)		probably benign	Het
Clasrp	A	G	7: 19,320,510 (GRCm39)		probably benign	Het
Cntnap5c	T	A	17: 58,637,310 (GRCm39)	N1062K	probably benign	Het
Col3a1	A	G	1: 45,360,792 (GRCm39)	D74G	unknown	Het
Copb1	T	A	7: 113,853,110 (GRCm39)	D29V	possibly damaging	Het
Cox6a1	C	T	5: 115,486,907 (GRCm39)	E35K	possibly damaging	Het
Cyp2b9	G	A	7: 25,873,030 (GRCm39)		probably null	Het
Ddx46	A	G	13: 55,795,521 (GRCm39)	K177E	possibly damaging	Het
Dmbt1	T	C	7: 130,692,224 (GRCm39)	F823L	probably benign	Het
Fam228a	T	C	12: 4,787,775 (GRCm39)		probably benign	Het
Fam83e	A	T	7: 45,378,193 (GRCm39)	K406*	probably null	Het
Fam83e	A	T	7: 45,378,194 (GRCm39)	K406M	possibly damaging	Het
Fam90a1a	T	A	8: 22,453,533 (GRCm39)	L296Q	possibly damaging	Het
Fat1	A	G	8: 45,403,408 (GRCm39)	Y53C	probably damaging	Het
Fhdc1	T	C	3: 84,353,353 (GRCm39)	E624G	probably benign	Het
Fryl	T	A	5: 73,230,187 (GRCm39)	N1657Y	possibly damaging	Het
Fsip2	T	A	2: 82,793,095 (GRCm39)	D417E	probably benign	Het
Garin5b	T	A	7: 4,774,020 (GRCm39)	M31L	probably benign	Het
Greb1l	A	G	18: 10,503,307 (GRCm39)	M453V	possibly damaging	Het
Gtf2b	A	G	3: 142,487,185 (GRCm39)	D207G	probably benign	Het
Has3	C	A	8: 107,600,888 (GRCm39)	L117I	probably damaging	Het
Iqca1l	C	T	5: 24,757,038 (GRCm39)		probably benign	Het
Jmjd1c	T	A	10: 67,061,073 (GRCm39)	I1142N	probably damaging	Het
Lipt2	C	T	7: 99,808,601 (GRCm39)	T38I	probably benign	Het
Magea2	A	T	X: 153,810,855 (GRCm39)	L243Q	probably damaging	Het
Mast4	A	T	13: 102,872,259 (GRCm39)	C2178S	possibly damaging	Het
Mctp2	A	G	7: 71,835,568 (GRCm39)	L543P	probably damaging	Het
Mmut	A	T	17: 41,267,210 (GRCm39)	I595F	probably benign	Het
Mphosph9	C	T	5: 124,421,722 (GRCm39)	V740I	probably benign	Het
Mtrex	A	T	13: 113,013,046 (GRCm39)	M890K	probably damaging	Het
Myo1e	G	A	9: 70,285,655 (GRCm39)		probably null	Het
Nlrc4	A	G	17: 74,752,625 (GRCm39)	I586T	probably damaging	Het
Nom1	T	A	5: 29,642,750 (GRCm39)	V417D	probably damaging	Het
Nphs1	A	T	7: 30,167,417 (GRCm39)	I782F	possibly damaging	Het
Numa1	A	G	7: 101,649,998 (GRCm39)	E1243G	probably damaging	Het
Or4a81	T	C	2: 89,618,814 (GRCm39)	H294R	probably benign	Het
Or4k42	T	C	2: 111,320,323 (GRCm39)	Y60C	probably damaging	Het
Or52e7	A	G	7: 104,685,026 (GRCm39)	Y207C	probably benign	Het
Or5g23	T	A	2: 85,438,807 (GRCm39)	Y149F	possibly damaging	Het
Or5p54	A	T	7: 107,554,244 (GRCm39)	Y132F	probably damaging	Het
Orai2	C	T	5: 136,190,454 (GRCm39)	V52I	probably damaging	Het
Osbpl5	A	G	7: 143,262,831 (GRCm39)	C186R	probably damaging	Het
Osbpl6	A	G	2: 76,414,818 (GRCm39)	E403G	probably damaging	Het
Padi4	G	A	4: 140,487,251 (GRCm39)	T217I	possibly damaging	Het
Parm1	C	T	5: 91,741,980 (GRCm39)	T116I	possibly damaging	Het
Pde4dip	T	A	3: 97,625,500 (GRCm39)	Q1366L	probably damaging	Het
Phgdh	T	C	3: 98,235,607 (GRCm39)	K108E	probably benign	Het
Pold1	T	C	7: 44,183,223 (GRCm39)		probably null	Het
Ppp1r37	G	T	7: 19,295,943 (GRCm39)		probably benign	Het
Sdk2	T	C	11: 113,721,620 (GRCm39)	N1332S	probably benign	Het
Sema6d	A	G	2: 124,506,070 (GRCm39)	D626G	probably damaging	Het
Slc18b1	A	G	10: 23,686,820 (GRCm39)	N212S	probably benign	Het
Slc2a9	T	C	5: 38,610,542 (GRCm39)	T86A	probably damaging	Het
Slco1a6	A	T	6: 142,036,742 (GRCm39)	M555K	probably benign	Het
Sntg2	C	T	12: 30,286,687 (GRCm39)	W302*	probably null	Het
Spata22	T	A	11: 73,231,301 (GRCm39)	M185K	possibly damaging	Het
Stk35	T	A	2: 129,652,427 (GRCm39)	Y309*	probably null	Het
Taar8c	A	G	10: 23,976,969 (GRCm39)	V281A	probably benign	Het
Thoc1	C	A	18: 9,993,466 (GRCm39)	D608E	possibly damaging	Het
Tmem121b	A	T	6: 120,469,030 (GRCm39)	Y562*	probably null	Het
Tmem121b	A	G	6: 120,469,032 (GRCm39)	Y562H	probably damaging	Het
Tmtc4	A	T	14: 123,178,820 (GRCm39)	I449N	probably benign	Het
Tmub1	C	A	5: 24,651,922 (GRCm39)	G14V	possibly damaging	Het
Tmub1	G	A	5: 24,652,175 (GRCm39)		probably benign	Het
Tshz2	A	G	2: 169,728,397 (GRCm39)	T529A	probably damaging	Het
Ugdh	A	T	5: 65,574,458 (GRCm39)		probably benign	Het
Usp25	A	G	16: 76,910,682 (GRCm39)	K913E	probably benign	Het
Vgf	A	G	5: 137,060,401 (GRCm39)		probably benign	Het
Vmn2r19	T	A	6: 123,306,845 (GRCm39)	F451Y	probably benign	Het
Vmn2r59	A	T	7: 41,661,669 (GRCm39)	C715*	probably null	Het
Vps9d1	C	A	8: 123,971,860 (GRCm39)	A582S	probably benign	Het
Xbp1	T	G	11: 5,474,841 (GRCm39)	H247Q	probably damaging	Het
Zfp1008	A	T	13: 62,755,210 (GRCm39)	I36N	probably benign	Het
Zfp319	A	T	8: 96,055,129 (GRCm39)	M358K	possibly damaging	Het
Zfp438	A	T	18: 5,213,508 (GRCm39)	N483K	probably damaging	Het
Zfp518b	T	C	5: 38,828,979 (GRCm39)	N1009D	possibly damaging	Het
Zfp644	A	T	5: 106,783,711 (GRCm39)	H945Q	probably damaging	Het
Zgrf1	T	A	3: 127,355,646 (GRCm39)	S291T	probably benign	Het

Other mutations in Drc7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00340:Drc7	APN	8	95,782,629 (GRCm39)	splice site	probably benign
IGL00922:Drc7	APN	8	95,804,606 (GRCm39)	missense	probably benign	0.00
IGL01610:Drc7	APN	8	95,804,430 (GRCm39)	missense	probably damaging	1.00
IGL01642:Drc7	APN	8	95,785,767 (GRCm39)	missense	probably benign	0.34
IGL01793:Drc7	APN	8	95,797,905 (GRCm39)	missense	probably benign	0.25
IGL01936:Drc7	APN	8	95,800,760 (GRCm39)	missense	possibly damaging	0.89
IGL01953:Drc7	APN	8	95,785,753 (GRCm39)	missense	probably damaging	1.00
IGL01998:Drc7	APN	8	95,785,821 (GRCm39)	missense	probably damaging	1.00
IGL02237:Drc7	APN	8	95,799,507 (GRCm39)	missense	probably damaging	1.00
IGL02259:Drc7	APN	8	95,782,733 (GRCm39)	missense	probably benign
IGL02285:Drc7	APN	8	95,797,861 (GRCm39)	splice site	probably benign
IGL02940:Drc7	APN	8	95,800,925 (GRCm39)	missense	probably damaging	0.99
IGL03032:Drc7	APN	8	95,802,875 (GRCm39)	splice site	probably benign
IGL03181:Drc7	APN	8	95,794,755 (GRCm39)	missense	probably benign	0.00
R0018:Drc7	UTSW	8	95,800,862 (GRCm39)	missense	probably damaging	0.99
R0018:Drc7	UTSW	8	95,800,862 (GRCm39)	missense	probably damaging	0.99
R0281:Drc7	UTSW	8	95,797,881 (GRCm39)	missense	possibly damaging	0.61
R0304:Drc7	UTSW	8	95,785,756 (GRCm39)	missense	probably damaging	1.00
R0362:Drc7	UTSW	8	95,799,483 (GRCm39)	missense	probably benign	0.00
R1127:Drc7	UTSW	8	95,799,416 (GRCm39)	missense	probably damaging	0.98
R1635:Drc7	UTSW	8	95,800,960 (GRCm39)	critical splice donor site	probably null
R1921:Drc7	UTSW	8	95,782,644 (GRCm39)	missense	unknown
R1931:Drc7	UTSW	8	95,797,881 (GRCm39)	missense	possibly damaging	0.61
R3851:Drc7	UTSW	8	95,788,464 (GRCm39)	nonsense	probably null
R4797:Drc7	UTSW	8	95,800,925 (GRCm39)	missense	probably damaging	0.96
R4827:Drc7	UTSW	8	95,798,267 (GRCm39)	missense	probably damaging	0.98
R4966:Drc7	UTSW	8	95,798,224 (GRCm39)	missense	probably benign	0.45
R5194:Drc7	UTSW	8	95,788,345 (GRCm39)	missense	probably benign	0.00
R5721:Drc7	UTSW	8	95,800,961 (GRCm39)	critical splice donor site	probably null
R5911:Drc7	UTSW	8	95,800,754 (GRCm39)	missense	probably damaging	1.00
R5993:Drc7	UTSW	8	95,800,820 (GRCm39)	missense	probably benign
R6056:Drc7	UTSW	8	95,801,679 (GRCm39)	missense	probably damaging	1.00
R6534:Drc7	UTSW	8	95,797,910 (GRCm39)	missense	probably damaging	1.00
R6576:Drc7	UTSW	8	95,801,886 (GRCm39)	missense	probably damaging	0.98
R6861:Drc7	UTSW	8	95,789,025 (GRCm39)	critical splice donor site	probably null
R7104:Drc7	UTSW	8	95,785,711 (GRCm39)	missense	probably damaging	0.99
R7157:Drc7	UTSW	8	95,800,778 (GRCm39)	missense	probably damaging	0.99
R7205:Drc7	UTSW	8	95,804,549 (GRCm39)	missense	probably damaging	1.00
R7283:Drc7	UTSW	8	95,798,207 (GRCm39)	missense	probably damaging	0.99
R7351:Drc7	UTSW	8	95,785,135 (GRCm39)	missense	probably benign	0.25
R7567:Drc7	UTSW	8	95,794,684 (GRCm39)	missense	probably benign	0.00
R8211:Drc7	UTSW	8	95,782,707 (GRCm39)	missense	unknown
R8281:Drc7	UTSW	8	95,788,805 (GRCm39)	missense	possibly damaging	0.81
R8401:Drc7	UTSW	8	95,800,763 (GRCm39)	missense	probably benign
R8821:Drc7	UTSW	8	95,788,845 (GRCm39)	missense	probably damaging	1.00
R8831:Drc7	UTSW	8	95,788,845 (GRCm39)	missense	probably damaging	1.00
R9044:Drc7	UTSW	8	95,797,077 (GRCm39)	missense	probably damaging	0.98
R9326:Drc7	UTSW	8	95,801,886 (GRCm39)	missense	probably benign	0.02
R9565:Drc7	UTSW	8	95,801,866 (GRCm39)	missense	probably damaging	0.98
R9581:Drc7	UTSW	8	95,785,782 (GRCm39)	missense	probably damaging	0.98
Y5404:Drc7	UTSW	8	95,794,778 (GRCm39)	small deletion	probably benign

Predicted Primers

PCR Primer
(F):5'- TCTAGGATGGTCTCGCCTTC -3'
(R):5'- CATCATGGAGGAGGTGCATC -3'

Sequencing Primer
(F):5'- TCTTCTAATAGCATAACCGTAATCCC -3'
(R):5'- AGGAGGTGCATCACGGC -3'

Posted On

2014-10-16