Mutagenetix > Incidental Mutations

Incidental Mutation 'R2332:Depdc1a'

246458

Institutional Source

Beutler Lab

Gene Symbol

Depdc1a

Ensembl Gene

ENSMUSG00000028175

Gene Name

DEP domain containing 1a

Synonyms

5830484J08Rik

MMRRC Submission

040322-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.196) question?

Stock #

R2332 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

159495433-159529955 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 159523866 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 612 (Q612K)

Ref Sequence

ENSEMBL: ENSMUSP00000113216 (fasta)

Gene Model

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

AlphaFold

Q8CIG0

Predicted Effect

probably damaging
Transcript: ENSMUST00000029825
AA Change: Q612K

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000029825
Gene: ENSMUSG00000028175
AA Change: Q612K

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: Q335K

PolyPhen 2 Score 0.451 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000101656
Gene: ENSMUSG00000028175
AA Change: Q335K

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: Q612K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000113216
Gene: ENSMUSG00000028175
AA Change: Q612K

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

0.2937

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

98% (47/48)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apc	T	C	18: 34,317,059	I2302T	possibly damaging	Het
Apoa4	G	A	9: 46,242,355	V85I	probably benign	Het
Banf1	C	T	19: 5,365,030	W84*	probably null	Het
Cdk13	A	G	13: 17,718,695	L627P	probably damaging	Het
Cep250	A	G	2: 155,990,607	E1483G	probably damaging	Het
Crygs	C	T	16: 22,805,551	G102D	possibly damaging	Het
Ddx60	A	G	8: 62,037,091	E1698G	probably benign	Het
Dnaja2	G	A	8: 85,540,136	R321C	probably damaging	Het
Fam186b	T	A	15: 99,280,428	E339V	probably benign	Het
Fga	T	C	3: 83,031,397	F360L	probably damaging	Het
Fut9	C	T	4: 25,619,823	W330*	probably null	Het
Ghr	T	C	15: 3,320,409	N429S	probably benign	Het
Gm5444	A	T	13: 4,833,625		noncoding transcript	Het
Hjurp	G	C	1: 88,277,215		probably benign	Het
Hoxa5	T	C	6: 52,202,679	I239V	probably damaging	Het
Hps6	T	C	19: 46,004,491	V289A	possibly damaging	Het
Iqcb1	A	G	16: 36,843,439	N190D	possibly damaging	Het
Map3k13	G	A	16: 21,898,677		probably null	Het
Olfr1115	T	C	2: 87,252,873	V312A	possibly damaging	Het
Olfr607	A	G	7: 103,461,086	Y41H	probably damaging	Het
Pacsin1	A	G	17: 27,704,911	E93G	possibly damaging	Het
Pds5a	A	G	5: 65,627,079		probably null	Het
Ppp1r9b	A	T	11: 94,996,609	E482D	probably damaging	Het
Rhobtb3	A	G	13: 75,910,852	S276P	probably benign	Het
Rimbp2	A	G	5: 128,789,641	V538A	probably benign	Het
Rmdn3	A	T	2: 119,153,527		probably benign	Het
Setx	GTGGCT	GT	2: 29,154,061	1814	probably null	Het
Sh3rf1	C	T	8: 61,226,287	P121L	probably benign	Het
Slc4a11	A	T	2: 130,684,459	V855D	probably benign	Het
Speer4f1	C	A	5: 17,479,524	N183K	probably damaging	Het
Sstr4	A	T	2: 148,396,410	N314Y	probably damaging	Het
Synj2	A	G	17: 6,023,794	K288E	probably damaging	Het
Trhde	T	A	10: 114,592,165	N409Y	probably damaging	Het
Ttn	A	T	2: 76,781,139	W15604R	probably damaging	Het
Ugdh	C	T	5: 65,427,484	V32I	possibly damaging	Het
Uhrf1	C	A	17: 56,310,671		probably null	Het
Vps13d	G	T	4: 145,148,686	D1750E	probably benign	Het
Wdfy3	A	G	5: 101,888,323		probably benign	Het
Wnt4	C	A	4: 137,296,520	T266K	probably benign	Het
Wtap	C	T	17: 12,967,538	R374Q	possibly damaging	Het
Zfp322a	A	T	13: 23,357,324	C83S	probably damaging	Het

Other mutations in Depdc1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00577:Depdc1a	APN	3	159522738	nonsense	probably null
IGL00581:Depdc1a	APN	3	159526552	missense	probably benign	0.12
IGL00961:Depdc1a	APN	3	159523814	missense	possibly damaging	0.79
IGL01530:Depdc1a	APN	3	159523923	missense	probably damaging	1.00
IGL01567:Depdc1a	APN	3	159526546	missense	probably damaging	1.00
IGL02320:Depdc1a	APN	3	159516933	missense	probably damaging	0.99
IGL02622:Depdc1a	APN	3	159515510	missense	probably benign	0.02
IGL02647:Depdc1a	APN	3	159522866	missense	probably damaging	1.00
P0033:Depdc1a	UTSW	3	159516141	missense	probably damaging	0.99
P4717OSA:Depdc1a	UTSW	3	159522547	missense	probably damaging	1.00
P4748:Depdc1a	UTSW	3	159522547	missense	probably damaging	1.00
R0220:Depdc1a	UTSW	3	159523905	missense	probably benign	0.06
R0454:Depdc1a	UTSW	3	159516900	splice site	probably null
R0479:Depdc1a	UTSW	3	159520860	missense	probably damaging	1.00
R1317:Depdc1a	UTSW	3	159523287	missense	probably damaging	1.00
R1452:Depdc1a	UTSW	3	159526691	missense	possibly damaging	0.88
R1567:Depdc1a	UTSW	3	159522540	missense	possibly damaging	0.86
R1669:Depdc1a	UTSW	3	159522924	missense	probably benign	0.07
R1751:Depdc1a	UTSW	3	159523287	missense	probably damaging	1.00
R4023:Depdc1a	UTSW	3	159516149	splice site	probably null
R4254:Depdc1a	UTSW	3	159498487	missense	probably damaging	0.99
R4551:Depdc1a	UTSW	3	159522584	missense	probably damaging	1.00
R4780:Depdc1a	UTSW	3	159526706	missense	probably benign	0.00
R4782:Depdc1a	UTSW	3	159526636	missense	probably damaging	1.00
R4866:Depdc1a	UTSW	3	159516127	missense	probably damaging	0.96
R4981:Depdc1a	UTSW	3	159523913	missense	probably benign	0.14
R5100:Depdc1a	UTSW	3	159515520	missense	probably benign	0.06
R5326:Depdc1a	UTSW	3	159526649	missense	probably damaging	1.00
R5367:Depdc1a	UTSW	3	159523954	splice site	probably null
R5892:Depdc1a	UTSW	3	159526669	missense	probably damaging	1.00
R6314:Depdc1a	UTSW	3	159498414	missense	probably damaging	1.00
R6467:Depdc1a	UTSW	3	159516042	missense	probably benign	0.00
R6674:Depdc1a	UTSW	3	159526707	missense	probably benign	0.00
R7061:Depdc1a	UTSW	3	159522852	missense	possibly damaging	0.74
R7366:Depdc1a	UTSW	3	159523212	missense	probably benign	0.00
R7531:Depdc1a	UTSW	3	159522639	missense	probably damaging	1.00
R7886:Depdc1a	UTSW	3	159516069	missense	probably benign	0.04
R7981:Depdc1a	UTSW	3	159520851	missense	probably benign	0.00
R8335:Depdc1a	UTSW	3	159523222	missense	probably damaging	1.00
R8488:Depdc1a	UTSW	3	159523875	missense	probably damaging	0.96
R8560:Depdc1a	UTSW	3	159514275	missense	probably damaging	1.00
R8725:Depdc1a	UTSW	3	159522719	missense	probably benign	0.03
R8727:Depdc1a	UTSW	3	159522719	missense	probably benign	0.03
R9096:Depdc1a	UTSW	3	159498480	missense	probably benign	0.00
R9097:Depdc1a	UTSW	3	159498480	missense	probably benign	0.00
R9360:Depdc1a	UTSW	3	159526531	missense	possibly damaging	0.90
X0026:Depdc1a	UTSW	3	159498631	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- ACTTGATCTGTGTCACTTTGTTTTAT -3'
(R):5'- CGATGTAGAGATCAGGGAGAACTTG -3'

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

Posted On

2014-10-30