Mutagenetix > Incidental Mutation

Incidental Mutation 'R7108:Drc3'

551342

Institutional Source

Beutler Lab

Gene Symbol

Drc3

Ensembl Gene

ENSMUSG00000056598

Gene Name

dynein regulatory complex subunit 3

Synonyms

4930449E07Rik, Lrrc48, m6Bei

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.127) question?

Stock #

R7108 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

60353329-60394341 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 60370554 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 177 (F177Y)

Ref Sequence

ENSEMBL: ENSMUSP00000065525 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070805] [ENSMUST00000094140] [ENSMUST00000108722] [ENSMUST00000108723]

AlphaFold

Q9D5E4

Predicted Effect

probably benign
Transcript: ENSMUST00000070805
AA Change: F177Y

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000065525
Gene: ENSMUSG00000056598
AA Change: F177Y

Domain	Start	End	E-Value	Type
low complexity region	66	75	N/A	INTRINSIC
LRR	86	106	9.24e1	SMART
LRR	108	129	1.71e1	SMART
LRR	130	153	1.49e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000094140
AA Change: F177Y

PolyPhen 2 Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000091691
Gene: ENSMUSG00000056598
AA Change: F177Y

Domain	Start	End	E-Value	Type
low complexity region	66	75	N/A	INTRINSIC
LRR	86	106	9.24e1	SMART
LRR	108	129	1.71e1	SMART
LRR	130	153	1.49e1	SMART
low complexity region	216	235	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108722
AA Change: F177Y

PolyPhen 2 Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000104362
Gene: ENSMUSG00000056598
AA Change: F177Y

Domain	Start	End	E-Value	Type
low complexity region	66	75	N/A	INTRINSIC
LRR	86	106	9.24e1	SMART
LRR	108	129	1.71e1	SMART
LRR	130	153	1.49e1	SMART
low complexity region	216	235	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108723
AA Change: F177Y

PolyPhen 2 Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000104363
Gene: ENSMUSG00000056598
AA Change: F177Y

Domain	Start	End	E-Value	Type
low complexity region	66	75	N/A	INTRINSIC
LRR	86	106	9.24e1	SMART
LRR	108	129	1.71e1	SMART
LRR	130	153	1.49e1	SMART
low complexity region	216	235	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	T	C	11: 58,880,924	S411P	probably damaging	Het
4930503L19Rik	A	T	18: 70,468,476	Y112N	probably benign	Het
Abcd2	A	T	15: 91,191,274	V112E	probably benign	Het
Acadm	A	T	3: 153,925,800	Y353*	probably null	Het
Adra2c	A	G	5: 35,279,998	D38G	probably benign	Het
Ankrd10	C	T	8: 11,612,624	G370R	probably damaging	Het
Arfgef2	T	A	2: 166,873,608	N1324K	possibly damaging	Het
Atp6v1b2	A	G	8: 69,102,501	T172A	probably damaging	Het
BC003331	T	C	1: 150,382,290	Y198C	probably benign	Het
Bloc1s1	T	A	10: 128,922,723	K22M	possibly damaging	Het
Brpf3	A	G	17: 28,817,125	T599A	probably benign	Het
Cacna1e	TTCCAGTCTC	TTC	1: 154,468,995		probably null	Het
Casc1	G	A	6: 145,185,865	Q351*	probably null	Het
Ccdc186	T	C	19: 56,798,760	D592G	probably damaging	Het
Cfap161	A	T	7: 83,793,310	D98E	possibly damaging	Het
Cfi	G	A	3: 129,875,016	V564M	probably damaging	Het
Cilp2	T	A	8: 69,881,129	Q1073L	probably damaging	Het
Cox6b1	A	G	7: 30,623,504	C40R	possibly damaging	Het
Cyp3a59	A	T	5: 146,096,333	M172L	probably benign	Het
Cyth1	T	C	11: 118,182,913	D198G	probably damaging	Het
Daam2	T	C	17: 49,460,674	D963G	probably damaging	Het
Ddi2	A	T	4: 141,705,937	D209E	probably benign	Het
Dnah12	G	A	14: 26,778,912		probably null	Het
Dpagt1	G	T	9: 44,327,021		probably benign	Het
Dsg2	T	C	18: 20,601,863	V966A	probably damaging	Het
E430018J23Rik	A	G	7: 127,391,523	S431P	probably benign	Het
E4f1	A	G	17: 24,444,578	V633A	probably damaging	Het
Eif2ak2	T	A	17: 78,858,536	R411*	probably null	Het
Frem2	T	C	3: 53,653,513	E1191G	probably damaging	Het
Fry	T	C	5: 150,395,786	V972A	probably damaging	Het
Fry	T	A	5: 150,491,090	C467S		Het
Fscn1	T	C	5: 142,960,515	Y23H	probably damaging	Het
Gm16506	T	A	14: 43,724,302	I163F		Het
Gm21103	T	C	14: 6,303,774	Y92C	probably damaging	Het
Golgb1	A	G	16: 36,913,721	H1151R	probably benign	Het
Gprc5c	T	C	11: 114,864,282	Y262H	probably damaging	Het
Hc	G	T	2: 35,039,694	N245K	probably benign	Het
Hps6	T	A	19: 46,005,490	L622Q	probably damaging	Het
Hsd17b1	T	C	11: 101,079,209	Y156H	probably damaging	Het
Ireb2	T	A	9: 54,906,641	F799L	probably damaging	Het
Irf1	A	G	11: 53,774,412	D205G	probably damaging	Het
Kif12	A	T	4: 63,171,205	F103L	probably benign	Het
Krt12	C	T	11: 99,416,052	V475M	unknown	Het
Lca5	T	A	9: 83,423,169	T195S	probably benign	Het
Lrrc17	T	C	5: 21,575,339	V437A	possibly damaging	Het
Malt1	G	T	18: 65,464,051	D468Y	probably damaging	Het
Man2b2	C	T	5: 36,815,485	A562T	probably benign	Het
Mrc1	C	T	2: 14,304,146	Q794*	probably null	Het
Muc16	T	A	9: 18,655,233	I1997L	unknown	Het
Muc6	AGGCGCAGAAACCCTGGC	AGGC	7: 141,634,450		probably null	Het
Mycbp2	A	T	14: 103,122,603	F4518Y	probably damaging	Het
Myo5a	T	A	9: 75,129,992	I159N	probably damaging	Het
Nat1	T	C	8: 67,491,020	V19A	probably benign	Het
Ndst4	A	G	3: 125,561,471	T343A	probably damaging	Het
Nlrp9b	A	T	7: 20,045,930	L839F	probably damaging	Het
Nxnl1	A	G	8: 71,566,554	I9T	probably benign	Het
Olfr1351	C	A	10: 79,017,649	S109*	probably null	Het
Olfr331	T	A	11: 58,502,554	M7L	probably benign	Het
Olfr364-ps1	C	T	2: 37,146,260	T16I	probably benign	Het
Olfr548-ps1	A	T	7: 102,541,992	I19F	probably damaging	Het
Olfr693	G	A	7: 106,678,048	A146V	probably benign	Het
Pou5f2	T	C	13: 78,025,265	S109P	possibly damaging	Het
Prkcz	G	A	4: 155,286,793	Q321*	probably null	Het
Prr18	G	T	17: 8,341,531	R173L	probably damaging	Het
Ralgapb	T	C	2: 158,492,460	Y1364H	probably damaging	Het
Ralgapb	A	T	2: 158,494,662	I1407F	probably damaging	Het
Sacs	T	A	14: 61,211,009	Y3501*	probably null	Het
Sall3	G	A	18: 80,973,754	P320S	probably benign	Het
Scn8a	A	T	15: 101,039,778	H1676L	probably benign	Het
Shmt1	T	C	11: 60,798,644	D178G	probably damaging	Het
Slmap	T	C	14: 26,422,521	K737R	probably benign	Het
Ssh2	G	A	11: 77,454,794	V1202I	probably benign	Het
Stard7	A	G	2: 127,295,494	D288G	possibly damaging	Het
Tek	A	T	4: 94,853,487	D827V	probably damaging	Het
Tfap2e	A	G	4: 126,720,563	L276P	probably damaging	Het
Tns3	T	C	11: 8,437,251	N1312S	probably benign	Het
Tubd1	T	A	11: 86,557,805	S315T	probably damaging	Het
Ube2f	T	A	1: 91,265,219	C50*	probably null	Het
Vmn2r109	T	C	17: 20,564,744	I5V	probably benign	Het
Vmn2r39	T	C	7: 9,023,668	T445A	probably damaging	Het

Other mutations in Drc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01319:Drc3	APN	11	60364962	missense	probably null	0.70
IGL01457:Drc3	APN	11	60358649	utr 5 prime	probably benign
IGL02329:Drc3	APN	11	60370578	missense	probably damaging	1.00
IGL02576:Drc3	APN	11	60370551	missense	probably benign	0.01
IGL02610:Drc3	APN	11	60370593	missense	probably benign	0.40
IGL02817:Drc3	APN	11	60384236	missense	probably benign	0.16
IGL03380:Drc3	APN	11	60377905	missense	probably benign	0.01
R0020:Drc3	UTSW	11	60370545	missense	probably damaging	1.00
R1221:Drc3	UTSW	11	60384226	missense	probably benign
R1394:Drc3	UTSW	11	60393719	missense	possibly damaging	0.94
R1483:Drc3	UTSW	11	60388889	missense	probably benign	0.00
R2093:Drc3	UTSW	11	60370484	missense	probably damaging	1.00
R2151:Drc3	UTSW	11	60375157	missense	probably benign	0.15
R4631:Drc3	UTSW	11	60364908	missense	probably benign	0.02
R4796:Drc3	UTSW	11	60363528	missense	probably damaging	1.00
R4841:Drc3	UTSW	11	60370535	missense	probably benign	0.00
R4842:Drc3	UTSW	11	60370535	missense	probably benign	0.00
R5739:Drc3	UTSW	11	60375130	missense	possibly damaging	0.89
R5766:Drc3	UTSW	11	60393821	missense	probably benign	0.18
R6143:Drc3	UTSW	11	60370580	missense	possibly damaging	0.82
R6298:Drc3	UTSW	11	60393770	missense	possibly damaging	0.74
R6558:Drc3	UTSW	11	60364892	missense	probably damaging	1.00
R6611:Drc3	UTSW	11	60364947	missense	probably damaging	0.99
R6938:Drc3	UTSW	11	60394123	critical splice acceptor site	probably null
R7013:Drc3	UTSW	11	60387303	missense	probably benign	0.00
R7640:Drc3	UTSW	11	60388904	missense	probably benign
R7713:Drc3	UTSW	11	60370560	missense	probably benign
R9188:Drc3	UTSW	11	60358789	missense	probably damaging	1.00
R9500:Drc3	UTSW	11	60370508	missense	probably benign	0.19

Predicted Primers

PCR Primer
(F):5'- ACCTGACTATATGCAGGGTGC -3'
(R):5'- GAGACTATTGCTGGAGTGGC -3'

Sequencing Primer
(F):5'- CAGGTTGTGGACTCAGGAAG -3'
(R):5'- CTGGAGTGGCTGTGCACAG -3'

Posted On

2019-05-15