Mutagenetix > Incidental Mutation

Incidental Mutation 'R1567:Depdc1a'

175333

Institutional Source

Beutler Lab

Gene Symbol

Depdc1a

Ensembl Gene

ENSMUSG00000028175

Gene Name

DEP domain containing 1a

Synonyms

5830484J08Rik

MMRRC Submission

039606-MU

Accession Numbers

Essential gene?

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

Stock #

R1567 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

159201070-159235592 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 159228177 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 310 (I310F)

Ref Sequence

ENSEMBL: ENSMUSP00000113216 (fasta)

Gene Model

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

AlphaFold

Q8CIG0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029825
AA Change: I310F

PolyPhen 2 Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000029825
Gene: ENSMUSG00000028175
AA Change: I310F

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

possibly damaging
Transcript: ENSMUST00000120272
AA Change: I310F

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000113216
Gene: ENSMUSG00000028175
AA Change: I310F

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

1x: 99.1%
3x: 98.2%
10x: 95.8%
20x: 91.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	G	A	7: 120,030,352 (GRCm39)	V155I	probably benign	Het
Actrt2	T	C	4: 154,751,371 (GRCm39)	Q255R	possibly damaging	Het
Adar	A	T	3: 89,643,088 (GRCm39)	H323L	probably benign	Het
Adgrg5	T	A	8: 95,664,326 (GRCm39)	V312E	probably damaging	Het
Anapc1	T	C	2: 128,459,636 (GRCm39)	T1808A	probably damaging	Het
Aox3	C	A	1: 58,233,852 (GRCm39)	A1285E	probably damaging	Het
Arhgap40	T	A	2: 158,388,719 (GRCm39)	L551Q	probably damaging	Het
Blk	A	G	14: 63,618,178 (GRCm39)	S243P	probably damaging	Het
Cfap206	G	T	4: 34,716,490 (GRCm39)	A325E	probably benign	Het
Cimap1b	C	A	15: 89,261,981 (GRCm39)	R137L	probably benign	Het
Cnn3	A	T	3: 121,243,607 (GRCm39)	K23*	probably null	Het
Cog8	G	A	8: 107,780,740 (GRCm39)	R173*	probably null	Het
Col11a1	G	A	3: 113,932,261 (GRCm39)	R880H	unknown	Het
Cyp2c40	T	C	19: 39,792,215 (GRCm39)	Q243R	probably null	Het
Dcbld1	A	G	10: 52,195,752 (GRCm39)	E391G	probably damaging	Het
Dchs1	C	A	7: 105,421,068 (GRCm39)	A451S	probably benign	Het
Ddx43	A	G	9: 78,323,991 (GRCm39)	K441E	probably damaging	Het
Dnah17	C	T	11: 118,016,811 (GRCm39)	V247M	probably damaging	Het
Dtd1	G	T	2: 144,588,945 (GRCm39)	G201V	probably damaging	Het
Eif1ad3	A	T	12: 87,843,754 (GRCm39)	I134F	unknown	Het
Enoph1	G	A	5: 100,208,884 (GRCm39)	G80S	probably benign	Het
Fam76a	A	T	4: 132,645,039 (GRCm39)	Y48*	probably null	Het
Fut9	T	G	4: 25,620,344 (GRCm39)	T157P	probably damaging	Het
Gm57859	T	A	11: 113,578,728 (GRCm39)	V41D	probably damaging	Het
Gtpbp1	T	C	15: 79,596,391 (GRCm39)	I310T	probably damaging	Het
Hk3	T	A	13: 55,154,418 (GRCm39)	I753F	probably damaging	Het
Hnrnpl	G	T	7: 28,519,608 (GRCm39)	A419S	possibly damaging	Het
Ighv5-6	T	C	12: 113,589,528 (GRCm39)		probably benign	Het
Itpkb	A	G	1: 180,249,423 (GRCm39)	T933A	probably benign	Het
Kcnn2	T	G	18: 45,803,401 (GRCm39)		probably null	Het
Klra3	G	C	6: 130,310,107 (GRCm39)	R138G	probably benign	Het
Lmcd1	C	T	6: 112,287,526 (GRCm39)	R71C	probably damaging	Het
Mrgprb1	A	T	7: 48,097,201 (GRCm39)	V237E	probably damaging	Het
Mybl1	T	A	1: 9,755,976 (GRCm39)	E191V	probably damaging	Het
Nbas	T	A	12: 13,335,279 (GRCm39)	F158I	possibly damaging	Het
Nbr1	C	G	11: 101,466,037 (GRCm39)	L748V	probably damaging	Het
Nlrp10	G	A	7: 108,526,257 (GRCm39)	T27M	probably benign	Het
Notch3	G	A	17: 32,377,554 (GRCm39)	T174I	possibly damaging	Het
Nup85	T	A	11: 115,459,224 (GRCm39)	I109K	possibly damaging	Het
Or10h28	A	G	17: 33,488,450 (GRCm39)	I251V	probably benign	Het
Or2b28	A	T	13: 21,531,595 (GRCm39)	I166L	probably benign	Het
Or2n1e	A	G	17: 38,586,459 (GRCm39)	I266V	possibly damaging	Het
Or4c12b	T	C	2: 89,647,528 (GRCm39)	L280P	probably damaging	Het
Or4k48	G	T	2: 111,476,271 (GRCm39)	Q24K	possibly damaging	Het
Or5b105	T	C	19: 13,080,006 (GRCm39)	T221A	probably benign	Het
Phf2	T	C	13: 48,985,589 (GRCm39)	K64E	unknown	Het
Polr2a	T	C	11: 69,636,857 (GRCm39)	T365A	probably benign	Het
Prkcd	A	G	14: 30,329,405 (GRCm39)	C12R	probably benign	Het
Ptprq	T	C	10: 107,401,748 (GRCm39)	I1915V	probably benign	Het
Rcbtb2	G	A	14: 73,399,902 (GRCm39)	V112I	probably benign	Het
Rxfp3	A	G	15: 11,036,187 (GRCm39)	V395A	probably benign	Het
Ryr2	C	A	13: 11,774,563 (GRCm39)	G1198C	possibly damaging	Het
Scn1a	T	A	2: 66,103,675 (GRCm39)	I1851F	probably damaging	Het
Selenop	A	G	15: 3,309,180 (GRCm39)	*377W	probably null	Het
Sema4a	A	T	3: 88,359,353 (GRCm39)	C113S	probably damaging	Het
Sf3b1	C	G	1: 55,058,554 (GRCm39)	E12Q	possibly damaging	Het
Speg	T	C	1: 75,404,691 (GRCm39)	S2575P	probably benign	Het
Stk24	T	A	14: 121,545,468 (GRCm39)	I97L	probably benign	Het
Tap2	A	G	17: 34,433,065 (GRCm39)	K449R	probably benign	Het
Tecpr2	T	A	12: 110,908,030 (GRCm39)		probably null	Het
Ttn	T	A	2: 76,727,955 (GRCm39)		probably benign	Het
Uggt2	A	G	14: 119,246,505 (GRCm39)	F1204L	possibly damaging	Het
Ugt2b36	T	C	5: 87,240,258 (GRCm39)	I42M	probably damaging	Het
Zdhhc8	A	G	16: 18,044,984 (GRCm39)	L274P	probably benign	Het
Zfp974	C	A	7: 27,610,148 (GRCm39)	D526Y	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
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
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

2014-04-24