Mutagenetix > Incidental Mutation

Incidental Mutation 'R7612:Depdc7'

588650

Institutional Source

Beutler Lab

Gene Symbol

Depdc7

Ensembl Gene

ENSMUSG00000027173

Gene Name

DEP domain containing 7

Synonyms

MMRRC Submission

045680-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.150) question?

Stock #

R7612 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104552129-104573202 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 104560853 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 47 (Q47L)

Ref Sequence

ENSEMBL: ENSMUSP00000028595 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028595]

AlphaFold

Q91WS7

Predicted Effect

probably benign
Transcript: ENSMUST00000028595
AA Change: Q47L

PolyPhen 2 Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000028595
Gene: ENSMUSG00000027173
AA Change: Q47L

Domain	Start	End	E-Value	Type
DEP	46	136	4.97e-24	SMART
low complexity region	461	478	N/A	INTRINSIC
low complexity region	480	493	N/A	INTRINSIC

Meta Mutation Damage Score

0.2230

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (51/51)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057N15Rik	A	T	16: 88,570,496 (GRCm39)	Y181*	probably null	Het
Adgrf2	T	G	17: 43,025,271 (GRCm39)	K71T	possibly damaging	Het
Brca2	T	A	5: 150,464,076 (GRCm39)	M1280K	probably benign	Het
Card14	T	C	11: 119,224,405 (GRCm39)	S541P	possibly damaging	Het
Cd19	G	T	7: 126,013,496 (GRCm39)	Q98K	possibly damaging	Het
Ceacam5	T	A	7: 17,493,341 (GRCm39)	I788N	possibly damaging	Het
Cpne2	A	T	8: 95,284,048 (GRCm39)	I290L	probably benign	Het
Cpsf1	C	T	15: 76,481,209 (GRCm39)	V1216I	probably benign	Het
Csad	G	A	15: 102,097,357 (GRCm39)		probably benign	Het
Dnajc6	T	A	4: 101,455,123 (GRCm39)	S105T	probably benign	Het
Dsg4	C	A	18: 20,604,047 (GRCm39)	P838Q	probably damaging	Het
Efcab3	T	A	11: 104,999,647 (GRCm39)	Y179N	possibly damaging	Het
Egfr	A	T	11: 16,809,025 (GRCm39)	N73I	possibly damaging	Het
Eya2	T	C	2: 165,529,657 (GRCm39)		probably null	Het
Fubp1	A	G	3: 151,923,652 (GRCm39)	Q123R	possibly damaging	Het
Galns	A	G	8: 123,311,693 (GRCm39)	I439T	possibly damaging	Het
Gm57858	A	T	3: 36,079,506 (GRCm39)	S261R	possibly damaging	Het
Gsdmd	T	G	15: 75,736,803 (GRCm39)	L140R	probably damaging	Het
Hcrtr1	A	G	4: 130,029,478 (GRCm39)	V201A	possibly damaging	Het
Ildr2	T	A	1: 166,135,361 (GRCm39)	M371K	probably benign	Het
Kalrn	G	A	16: 34,134,582 (GRCm39)	T412I	possibly damaging	Het
Kdm5b	C	T	1: 134,552,656 (GRCm39)	Q1211*	probably null	Het
Loxhd1	T	C	18: 77,517,671 (GRCm39)	S1840P	possibly damaging	Het
Maml2	A	G	9: 13,617,781 (GRCm39)	M376V	probably benign	Het
Mgat4e	T	C	1: 134,469,745 (GRCm39)	T100A	probably damaging	Het
Myo18b	T	A	5: 113,013,168 (GRCm39)	T812S	possibly damaging	Het
Nanp	T	A	2: 150,881,158 (GRCm39)	E30V	probably null	Het
Or2w1b	G	T	13: 21,300,217 (GRCm39)	M118I	probably damaging	Het
Or4c107	T	G	2: 88,788,849 (GRCm39)	L13R	probably damaging	Het
Or5ac21	A	T	16: 59,123,990 (GRCm39)	H158L	probably damaging	Het
Parp3	T	A	9: 106,351,393 (GRCm39)	N241I	probably benign	Het
Piezo2	T	C	18: 63,175,610 (GRCm39)	N1924D	probably benign	Het
Pou1f1	A	G	16: 65,326,811 (GRCm39)	N137S	probably damaging	Het
Ptgdr	A	G	14: 45,096,094 (GRCm39)	M206T	probably damaging	Het
Ptprd	T	C	4: 76,004,696 (GRCm39)	T20A	probably benign	Het
Rexo1	G	C	10: 80,385,497 (GRCm39)	S520R	probably benign	Het
Sgip1	T	A	4: 102,727,005 (GRCm39)	S94T	probably benign	Het
Slc35e3	A	G	10: 117,576,785 (GRCm39)	V182A	probably benign	Het
Slfn2	A	G	11: 82,961,089 (GRCm39)	E356G	probably damaging	Het
Spry4	C	A	18: 38,722,982 (GRCm39)	K260N	probably damaging	Het
Sync	A	T	4: 129,187,375 (GRCm39)	M136L	probably benign	Het
Tm7sf2	A	G	19: 6,120,638 (GRCm39)	V425A	probably benign	Het
Trim21	T	A	7: 102,208,742 (GRCm39)	M326L	probably benign	Het
Trim62	A	G	4: 128,790,677 (GRCm39)	Q158R	probably benign	Het
Tubgcp2	T	A	7: 139,580,964 (GRCm39)	K663M	probably damaging	Het
Uggt1	T	C	1: 36,202,316 (GRCm39)	I1094V	probably damaging	Het
Urb1	A	G	16: 90,594,798 (GRCm39)	S245P	probably damaging	Het
Vwa3a	A	T	7: 120,351,838 (GRCm39)	D34V	probably null	Het
Zbtb45	C	T	7: 12,741,326 (GRCm39)	A311T	possibly damaging	Het
Zfp655	T	C	5: 145,173,999 (GRCm39)	S135P	unknown	Het

Other mutations in Depdc7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01065:Depdc7	APN	2	104,552,426 (GRCm39)	nonsense	probably null
IGL01419:Depdc7	APN	2	104,552,455 (GRCm39)	missense	possibly damaging	0.93
IGL02043:Depdc7	APN	2	104,560,626 (GRCm39)	missense	probably benign	0.17
IGL02819:Depdc7	APN	2	104,555,071 (GRCm39)	missense	probably benign	0.00
IGL02869:Depdc7	APN	2	104,560,694 (GRCm39)	missense	probably damaging	1.00
IGL02942:Depdc7	APN	2	104,558,439 (GRCm39)	missense	probably damaging	0.99
PIT4354001:Depdc7	UTSW	2	104,558,533 (GRCm39)	missense	probably benign	0.01
R0396:Depdc7	UTSW	2	104,557,668 (GRCm39)	splice site	probably benign
R0616:Depdc7	UTSW	2	104,557,650 (GRCm39)	missense	probably benign	0.33
R0631:Depdc7	UTSW	2	104,552,332 (GRCm39)	missense	possibly damaging	0.68
R0633:Depdc7	UTSW	2	104,553,226 (GRCm39)	missense	probably benign
R0856:Depdc7	UTSW	2	104,558,437 (GRCm39)	missense	probably benign	0.01
R0908:Depdc7	UTSW	2	104,558,437 (GRCm39)	missense	probably benign	0.01
R1184:Depdc7	UTSW	2	104,560,523 (GRCm39)	splice site	probably benign
R2129:Depdc7	UTSW	2	104,558,518 (GRCm39)	missense	probably benign	0.00
R5144:Depdc7	UTSW	2	104,560,598 (GRCm39)	missense	probably damaging	1.00
R6639:Depdc7	UTSW	2	104,555,098 (GRCm39)	missense	probably damaging	1.00
R7304:Depdc7	UTSW	2	104,553,463 (GRCm39)	missense	possibly damaging	0.89
R7552:Depdc7	UTSW	2	104,557,585 (GRCm39)	missense	possibly damaging	0.89
R7835:Depdc7	UTSW	2	104,558,530 (GRCm39)	missense	probably benign	0.00
R8274:Depdc7	UTSW	2	104,558,551 (GRCm39)	missense	probably benign	0.12
R8475:Depdc7	UTSW	2	104,552,314 (GRCm39)	missense	probably benign	0.07
R8940:Depdc7	UTSW	2	104,554,913 (GRCm39)	critical splice donor site	probably null
R9499:Depdc7	UTSW	2	104,553,220 (GRCm39)	critical splice donor site	probably null
R9551:Depdc7	UTSW	2	104,553,220 (GRCm39)	critical splice donor site	probably null
X0028:Depdc7	UTSW	2	104,560,886 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTTTGTAGTCCATAAGTGCCTG -3'
(R):5'- GCCCATAGTGTCTTCAAATGTGAG -3'

Sequencing Primer
(F):5'- TGACACACTCGCACCACTTTG -3'
(R):5'- TGAACTCTGGACCTTCGGAAG -3'

Posted On

2019-10-24