Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00577:Depdc1a'

6725

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: 0.120) question?

Stock #

IGL00577

Quality Score

Status

Chromosome

Chromosomal Location

159201070-159235592 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 159228375 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 376 (R376*)

Ref Sequence

ENSEMBL: ENSMUSP00000113216 (fasta)

Gene Model

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

AlphaFold

Q8CIG0

Predicted Effect

probably null
Transcript: ENSMUST00000029825
AA Change: R376*

SMART Domains

Protein: ENSMUSP00000029825
Gene: ENSMUSG00000028175
AA Change: R376*

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 null
Transcript: ENSMUST00000120272
AA Change: R376*

SMART Domains

Protein: ENSMUSP00000113216
Gene: ENSMUSG00000028175
AA Change: R376*

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ang6	T	A	14: 44,239,458 (GRCm39)	Y90F	probably benign	Het
Arhgef6	T	A	X: 56,290,992 (GRCm39)		probably null	Het
Ccdc88a	A	G	11: 29,374,772 (GRCm39)	E115G	probably damaging	Het
Ceacam12	T	A	7: 17,801,186 (GRCm39)	V55E	probably damaging	Het
Dop1a	A	T	9: 86,402,999 (GRCm39)	I1398F	probably damaging	Het
Eif2s1	T	G	12: 78,913,420 (GRCm39)	N40K	possibly damaging	Het
Epb41	T	A	4: 131,702,042 (GRCm39)	H531L	probably benign	Het
Frrs1	T	A	3: 116,696,049 (GRCm39)	W523R	probably damaging	Het
Gpatch8	T	C	11: 102,369,704 (GRCm39)	D1278G	probably damaging	Het
Mybpc1	C	T	10: 88,372,246 (GRCm39)	A795T	probably damaging	Het
Nrdc	T	C	4: 108,903,884 (GRCm39)		probably benign	Het
Os9	C	T	10: 126,933,845 (GRCm39)	R524K	probably benign	Het
Pisd	T	C	5: 32,895,756 (GRCm39)	I441V	probably benign	Het
Plekha5	T	A	6: 140,515,822 (GRCm39)		probably benign	Het
Prnp	A	G	2: 131,779,031 (GRCm39)	R228G	probably benign	Het
Prrc2c	G	A	1: 162,525,685 (GRCm39)	P307L	unknown	Het
Prss1	T	C	6: 41,439,645 (GRCm39)	V126A	possibly damaging	Het
Ptpn21	G	A	12: 98,699,860 (GRCm39)	S18F	probably damaging	Het
Setdb1	T	C	3: 95,245,888 (GRCm39)	D678G	probably damaging	Het
Sltm	G	T	9: 70,486,624 (GRCm39)	V430L	probably damaging	Het
Sphkap	A	G	1: 83,256,565 (GRCm39)	S395P	probably damaging	Het
Tas2r119	T	C	15: 32,177,599 (GRCm39)	I55T	probably damaging	Het
Tmc3	A	C	7: 83,252,682 (GRCm39)	E361A	probably null	Het
Uggt2	A	T	14: 119,272,312 (GRCm39)	S922T	possibly damaging	Het
Znhit1	A	T	5: 137,011,437 (GRCm39)	Y125*	probably null	Het

Other mutations in Depdc1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2012-04-20