Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00581:Depdc1a'

10126

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL00581

Quality Score

Status

Chromosome

Chromosomal Location

159201070-159235592 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 159232189 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 370 (C370S)

Ref Sequence

ENSEMBL: ENSMUSP00000101656 (fasta)

Gene Model

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

AlphaFold

Q8CIG0

Predicted Effect

probably benign
Transcript: ENSMUST00000029825
AA Change: C647S

PolyPhen 2 Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000029825
Gene: ENSMUSG00000028175
AA Change: C647S

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
AA Change: C370S

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000101656
Gene: ENSMUSG00000028175
AA Change: C370S

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 benign
Transcript: ENSMUST00000120272
AA Change: C647S

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000113216
Gene: ENSMUSG00000028175
AA Change: C647S

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 9 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadsb	A	T	7: 131,039,225 (GRCm39)		probably benign	Het
Arid4b	C	T	13: 14,334,780 (GRCm39)	R330W	probably damaging	Het
Gan	C	T	8: 117,920,063 (GRCm39)	T353M	probably damaging	Het
Kif28	A	T	1: 179,567,522 (GRCm39)	S83T	probably benign	Het
Rps27l	A	T	9: 66,854,207 (GRCm39)	D34V	possibly damaging	Het
Rrm2b	A	G	15: 37,929,319 (GRCm39)	V77A	probably damaging	Het
Scap	T	C	9: 110,205,699 (GRCm39)	V369A	probably damaging	Het
Tmeff2	A	T	1: 51,224,609 (GRCm39)	N365I	probably damaging	Het
Zfp142	T	C	1: 74,606,131 (GRCm39)	D1612G	probably damaging	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
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
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

Posted On

2012-12-06