Mutagenetix > Incidental Mutation

Incidental Mutation 'P4717OSA:Depdc1a'

43992

Institutional Source

Beutler Lab

Gene Symbol

Depdc1a

Ensembl Gene

ENSMUSG00000028175

Gene Name

DEP domain containing 1a

Synonyms

5830484J08Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.114) question?

Stock #

P4717OSA (G1) of strain 634

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

159201070-159235592 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 159228184 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 312 (V312A)

Ref Sequence

ENSEMBL: ENSMUSP00000029825 (fasta)

Gene Model

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

AlphaFold

Q8CIG0

Predicted Effect

probably damaging
Transcript: ENSMUST00000029825
AA Change: V312A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000029825
Gene: ENSMUSG00000028175
AA Change: V312A

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 benign
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 damaging
Transcript: ENSMUST00000120272
AA Change: V312A

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113216
Gene: ENSMUSG00000028175
AA Change: V312A

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

0.1075

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.6%

Validation Efficiency

100% (27/27)

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930556J24Rik	A	T	11: 3,888,178 (GRCm39)		probably null	Het
Acsm5	A	T	7: 119,131,195 (GRCm39)	E204D	probably benign	Het
Ahi1	G	C	10: 20,848,009 (GRCm39)	R472S	probably damaging	Het
Bbof1	G	A	12: 84,473,734 (GRCm39)	A355T	probably damaging	Het
Capn10	G	T	1: 92,867,116 (GRCm39)	Q115H	probably damaging	Het
Clec4n	A	C	6: 123,221,499 (GRCm39)	Q114H	probably damaging	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Gbp2	T	C	3: 142,336,357 (GRCm39)	F236L	possibly damaging	Het
Glb1l2	A	G	9: 26,677,317 (GRCm39)	I527T	probably damaging	Het
Hhla1	A	G	15: 65,795,850 (GRCm39)	L452P	probably damaging	Het
Mcoln3	T	G	3: 145,830,504 (GRCm39)	V78G	probably damaging	Het
Mylk	T	A	16: 34,797,483 (GRCm39)		probably benign	Het
Nxpe2	T	A	9: 48,237,677 (GRCm39)	M193L	probably benign	Het
Olig1	A	T	16: 91,066,877 (GRCm39)	Y38F	probably damaging	Het
Pkhd1l1	T	C	15: 44,386,895 (GRCm39)	V1256A	probably benign	Het
Pkhd1l1	A	T	15: 44,391,643 (GRCm39)	I1570F	probably damaging	Het
Prss12	T	C	3: 123,241,267 (GRCm39)	Y154H	probably damaging	Het
Rbp3	A	G	14: 33,677,456 (GRCm39)	D468G	probably damaging	Het
Relt	G	A	7: 100,496,788 (GRCm39)	R360C	probably damaging	Het
Tmed4	T	C	11: 6,223,727 (GRCm39)		probably benign	Het
Trhr	C	A	15: 44,060,831 (GRCm39)	T117K	probably damaging	Het
Ube2e2	A	G	14: 18,630,297 (GRCm38)		probably null	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
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
R5367:Depdc1a	UTSW	3	159,229,591 (GRCm39)	splice site	probably null
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'- TGCATGTGTCCTATTGAAATGGCTTCC -3'
(R):5'- TGGCTGCTGAGCATTTTCATCTGAG -3'

Sequencing Primer
(F):5'- TGGCTTCCAAATTAAGCAACTGC -3'
(R):5'- GTGCAGACACTAACGATTGCTTAC -3'

Posted On

2013-05-31