Mutagenetix > Incidental Mutation

Incidental Mutation 'R5367:Depdc1a'

429398

Institutional Source

Beutler Lab

Gene Symbol

Depdc1a

Ensembl Gene

ENSMUSG00000028175

Gene Name

DEP domain containing 1a

Synonyms

5830484J08Rik

MMRRC Submission

042945-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.120) question?

Stock #

R5367 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

159201070-159235592 bp(+) (GRCm39)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

G to A at 159229591 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000113216 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029825] [ENSMUST00000106041] [ENSMUST00000120272]

AlphaFold

Q8CIG0

Predicted Effect

probably null
Transcript: ENSMUST00000029825

SMART Domains

Protein: ENSMUSP00000029825
Gene: ENSMUSG00000028175

Domain	Start	End	E-Value	Type
DEP	24	108	3.51e-24	SMART
low complexity region	505	524	N/A	INTRINSIC
low complexity region	542	553	N/A	INTRINSIC
SCOP:d1f7ca_	584	680	3e-9	SMART
low complexity region	745	762	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000106041

SMART Domains

Protein: ENSMUSP00000101656
Gene: ENSMUSG00000028175

Domain	Start	End	E-Value	Type
DEP	24	108	3.51e-24	SMART
Pfam:RhoGAP	251	357	2.3e-11	PFAM
coiled coil region	460	488	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000120272

SMART Domains

Protein: ENSMUSP00000113216
Gene: ENSMUSG00000028175

Domain	Start	End	E-Value	Type
DEP	24	108	3.51e-24	SMART
low complexity region	505	524	N/A	INTRINSIC
low complexity region	542	553	N/A	INTRINSIC
SCOP:d1f7ca_	584	680	4e-9	SMART
coiled coil region	737	765	N/A	INTRINSIC

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

Validation Efficiency

97% (70/72)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadac	T	C	3: 59,947,057 (GRCm39)	Y252H	probably damaging	Het
Aadat	T	C	8: 60,979,630 (GRCm39)	I164T	probably damaging	Het
Adam11	A	G	11: 102,664,479 (GRCm39)	H389R	probably benign	Het
Alkbh5	G	T	11: 60,429,529 (GRCm39)	R94L	possibly damaging	Het
Ampd3	A	G	7: 110,407,078 (GRCm39)	K644R	possibly damaging	Het
Ankhd1	T	A	18: 36,722,461 (GRCm39)	L328H	probably damaging	Het
Ankrd55	G	T	13: 112,455,036 (GRCm39)	V45F	probably damaging	Het
Apol7c	C	A	15: 77,410,347 (GRCm39)	V200F	probably damaging	Het
Arap1	G	A	7: 101,058,337 (GRCm39)	V721M	probably damaging	Het
Arhgef40	A	G	14: 52,227,156 (GRCm39)	D400G	probably damaging	Het
Bmp4	G	T	14: 46,621,950 (GRCm39)	T198K	possibly damaging	Het
Cblb	T	A	16: 52,025,016 (GRCm39)	F970L	probably damaging	Het
Celf5	A	G	10: 81,303,098 (GRCm39)	S148P	probably damaging	Het
Ckap5	T	A	2: 91,445,486 (GRCm39)	C1708S	possibly damaging	Het
Clec2l	T	C	6: 38,654,459 (GRCm39)	F147L	possibly damaging	Het
Cnksr1	T	A	4: 133,957,525 (GRCm39)	I465F	possibly damaging	Het
Coq10b	A	G	1: 55,092,143 (GRCm39)	D37G	probably benign	Het
Cpq	T	G	15: 33,213,250 (GRCm39)	Y90D	possibly damaging	Het
Eif2ak4	T	A	2: 118,266,639 (GRCm39)		probably null	Het
Eif3e	C	T	15: 43,115,700 (GRCm39)	M355I	probably damaging	Het
Eif4e1b	G	A	13: 54,934,757 (GRCm39)	V181M	probably damaging	Het
Erap1	A	G	13: 74,794,680 (GRCm39)	E113G	probably damaging	Het
Fads2	A	G	19: 10,041,649 (GRCm39)	L438P	probably damaging	Het
Fbl	T	A	7: 27,874,475 (GRCm39)	V67E	probably damaging	Het
Gde1	A	G	7: 118,304,629 (GRCm39)	L82P	probably damaging	Het
Gm10226	T	C	17: 21,910,884 (GRCm39)	S40P	possibly damaging	Het
Gm10717	T	G	9: 3,026,317 (GRCm39)	F205C	probably damaging	Het
Gm1988	T	A	7: 38,823,204 (GRCm39)		noncoding transcript	Het
Gm6728	T	C	6: 136,463,502 (GRCm39)		noncoding transcript	Het
Grb14	C	T	2: 64,747,653 (GRCm39)	V369I	probably benign	Het
Jag1	T	A	2: 136,927,014 (GRCm39)	Q915L	possibly damaging	Het
Kdm5d	G	A	Y: 941,645 (GRCm39)	G1282D	probably benign	Het
Krt87	A	T	15: 101,384,875 (GRCm39)	L407Q	probably damaging	Het
Mlf1	A	T	3: 67,301,296 (GRCm39)	H118L	probably damaging	Het
Mmp10	G	T	9: 7,505,603 (GRCm39)	C289F	probably damaging	Het
Mroh2a	A	T	1: 88,182,687 (GRCm39)	N1205I	possibly damaging	Het
Myo9a	T	A	9: 59,807,732 (GRCm39)	S2029T	probably damaging	Het
Nap1l4	A	C	7: 143,088,035 (GRCm39)	S174R	probably damaging	Het
Nos3	A	G	5: 24,576,942 (GRCm39)	T490A	probably benign	Het
Or12d2	T	A	17: 37,625,147 (GRCm39)	I43F	probably damaging	Het
Or4k35	T	A	2: 111,100,235 (GRCm39)	Q159L	possibly damaging	Het
Or5a1	A	G	19: 12,097,800 (GRCm39)	V80A	possibly damaging	Het
Or5b106	G	A	19: 13,123,865 (GRCm39)	L53F	probably damaging	Het
Or5g23	A	T	2: 85,438,718 (GRCm39)	C179S	probably damaging	Het
Pdlim7	G	C	13: 55,653,975 (GRCm39)	T214S	probably benign	Het
Piezo2	T	C	18: 63,197,802 (GRCm39)	E1578G	probably damaging	Het
Ptcd1	T	A	5: 145,084,715 (GRCm39)		probably benign	Het
Sart3	C	T	5: 113,897,277 (GRCm39)		probably null	Het
Scara5	CG	C	14: 65,997,111 (GRCm39)		probably null	Het
Scrn2	A	G	11: 96,923,953 (GRCm39)	D279G	possibly damaging	Het
Sh2d3c	A	G	2: 32,635,914 (GRCm39)	D94G	probably damaging	Het
Slc12a4	A	T	8: 106,678,266 (GRCm39)	V309E	probably damaging	Het
Slc1a6	A	G	10: 78,623,637 (GRCm39)	E12G	probably damaging	Het
Smarcal1	T	C	1: 72,635,135 (GRCm39)		probably null	Het
Smr3a	T	C	5: 88,155,897 (GRCm39)		probably benign	Het
Stox2	A	G	8: 47,656,260 (GRCm39)	I72T	probably damaging	Het
Tmem234	G	T	4: 129,494,500 (GRCm39)		probably benign	Het
Tmem35b	A	G	4: 127,018,266 (GRCm39)	Q20R	possibly damaging	Het
Tom1l2	G	A	11: 60,132,634 (GRCm39)	H430Y	probably benign	Het
Tpo	T	C	12: 30,153,289 (GRCm39)	Y355C	probably damaging	Het
Tulp2	A	G	7: 45,166,075 (GRCm39)	N122S	possibly damaging	Het
Washc2	T	A	6: 116,236,111 (GRCm39)	L1194H	probably damaging	Het
Xbp1	T	C	11: 5,471,910 (GRCm39)	V12A	probably benign	Het

Other mutations in Depdc1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00577:Depdc1a	APN	3	159,228,375 (GRCm39)	nonsense	probably null
IGL00581:Depdc1a	APN	3	159,232,189 (GRCm39)	missense	probably benign	0.12
IGL00961:Depdc1a	APN	3	159,229,451 (GRCm39)	missense	possibly damaging	0.79
IGL01530:Depdc1a	APN	3	159,229,560 (GRCm39)	missense	probably damaging	1.00
IGL01567:Depdc1a	APN	3	159,232,183 (GRCm39)	missense	probably damaging	1.00
IGL02320:Depdc1a	APN	3	159,222,570 (GRCm39)	missense	probably damaging	0.99
IGL02622:Depdc1a	APN	3	159,221,147 (GRCm39)	missense	probably benign	0.02
IGL02647:Depdc1a	APN	3	159,228,503 (GRCm39)	missense	probably damaging	1.00
P0033:Depdc1a	UTSW	3	159,221,778 (GRCm39)	missense	probably damaging	0.99
P4717OSA:Depdc1a	UTSW	3	159,228,184 (GRCm39)	missense	probably damaging	1.00
P4748:Depdc1a	UTSW	3	159,228,184 (GRCm39)	missense	probably damaging	1.00
R0220:Depdc1a	UTSW	3	159,229,542 (GRCm39)	missense	probably benign	0.06
R0454:Depdc1a	UTSW	3	159,222,537 (GRCm39)	splice site	probably null
R0479:Depdc1a	UTSW	3	159,226,497 (GRCm39)	missense	probably damaging	1.00
R1317:Depdc1a	UTSW	3	159,228,924 (GRCm39)	missense	probably damaging	1.00
R1452:Depdc1a	UTSW	3	159,232,328 (GRCm39)	missense	possibly damaging	0.88
R1567:Depdc1a	UTSW	3	159,228,177 (GRCm39)	missense	possibly damaging	0.86
R1669:Depdc1a	UTSW	3	159,228,561 (GRCm39)	missense	probably benign	0.07
R1751:Depdc1a	UTSW	3	159,228,924 (GRCm39)	missense	probably damaging	1.00
R2332:Depdc1a	UTSW	3	159,229,503 (GRCm39)	missense	probably damaging	1.00
R4023:Depdc1a	UTSW	3	159,221,786 (GRCm39)	splice site	probably null
R4254:Depdc1a	UTSW	3	159,204,124 (GRCm39)	missense	probably damaging	0.99
R4551:Depdc1a	UTSW	3	159,228,221 (GRCm39)	missense	probably damaging	1.00
R4780:Depdc1a	UTSW	3	159,232,343 (GRCm39)	missense	probably benign	0.00
R4782:Depdc1a	UTSW	3	159,232,273 (GRCm39)	missense	probably damaging	1.00
R4866:Depdc1a	UTSW	3	159,221,764 (GRCm39)	missense	probably damaging	0.96
R4981:Depdc1a	UTSW	3	159,229,550 (GRCm39)	missense	probably benign	0.14
R5100:Depdc1a	UTSW	3	159,221,157 (GRCm39)	missense	probably benign	0.06
R5326:Depdc1a	UTSW	3	159,232,286 (GRCm39)	missense	probably damaging	1.00
R5892:Depdc1a	UTSW	3	159,232,306 (GRCm39)	missense	probably damaging	1.00
R6314:Depdc1a	UTSW	3	159,204,051 (GRCm39)	missense	probably damaging	1.00
R6467:Depdc1a	UTSW	3	159,221,679 (GRCm39)	missense	probably benign	0.00
R6674:Depdc1a	UTSW	3	159,232,344 (GRCm39)	missense	probably benign	0.00
R7061:Depdc1a	UTSW	3	159,228,489 (GRCm39)	missense	possibly damaging	0.74
R7366:Depdc1a	UTSW	3	159,228,849 (GRCm39)	missense	probably benign	0.00
R7531:Depdc1a	UTSW	3	159,228,276 (GRCm39)	missense	probably damaging	1.00
R7886:Depdc1a	UTSW	3	159,221,706 (GRCm39)	missense	probably benign	0.04
R7981:Depdc1a	UTSW	3	159,226,488 (GRCm39)	missense	probably benign	0.00
R8335:Depdc1a	UTSW	3	159,228,859 (GRCm39)	missense	probably damaging	1.00
R8488:Depdc1a	UTSW	3	159,229,512 (GRCm39)	missense	probably damaging	0.96
R8560:Depdc1a	UTSW	3	159,219,912 (GRCm39)	missense	probably damaging	1.00
R8725:Depdc1a	UTSW	3	159,228,356 (GRCm39)	missense	probably benign	0.03
R8727:Depdc1a	UTSW	3	159,228,356 (GRCm39)	missense	probably benign	0.03
R9096:Depdc1a	UTSW	3	159,204,117 (GRCm39)	missense	probably benign	0.00
R9097:Depdc1a	UTSW	3	159,204,117 (GRCm39)	missense	probably benign	0.00
R9360:Depdc1a	UTSW	3	159,232,168 (GRCm39)	missense	possibly damaging	0.90
X0026:Depdc1a	UTSW	3	159,204,268 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GGTTTGCTGCAACCTCACTTAG -3'
(R):5'- TCATCATAAACGATGTAGAGATCAGGG -3'

Sequencing Primer
(F):5'- CACTTAGAGAGGGTTGCCATC -3'
(R):5'- ATGGTTGCCTGTACAAGACC -3'

Posted On

2016-09-06