Mutagenetix > Incidental Mutation

Incidental Mutation 'R2860:Dennd10'

252874

Institutional Source

Beutler Lab

Gene Symbol

Dennd10

Ensembl Gene

ENSMUSG00000024993

Gene Name

DENN domain containing 10

Synonyms

1810055E12Rik, Fam45a

MMRRC Submission

040450-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R2860 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

60800023-60824665 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 60803232 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 80 (S80P)

Ref Sequence

ENSEMBL: ENSMUSP00000121853 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025957] [ENSMUST00000119633] [ENSMUST00000128357] [ENSMUST00000148577]

AlphaFold

Q9D8N2

Predicted Effect

probably benign
Transcript: ENSMUST00000025957
AA Change: S80P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000025957
Gene: ENSMUSG00000024993
AA Change: S80P

Domain	Start	End	E-Value	Type
Pfam:Avl9	118	207	1.7e-9	PFAM
Pfam:SPA	157	264	2.2e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000119633

SMART Domains

Protein: ENSMUSP00000112839
Gene: ENSMUSG00000024993

Domain	Start	End	E-Value	Type
Pfam:Avl9	5	88	1.4e-9	PFAM
Pfam:SPA	36	143	4.7e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000121724

Predicted Effect

probably benign
Transcript: ENSMUST00000128357

SMART Domains

Protein: ENSMUSP00000118461
Gene: ENSMUSG00000024993

Domain	Start	End	E-Value	Type
Pfam:Avl9	4	88	4e-10	PFAM
Pfam:SPA	35	136	1.2e-10	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136146

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147049

Predicted Effect

probably benign
Transcript: ENSMUST00000148577
AA Change: S80P

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

Meta Mutation Damage Score

0.0606

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 94.9%

Validation Efficiency

100% (44/44)

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,259,057 (GRCm39)	S2928G	probably damaging	Het
Abcc9	C	T	6: 142,571,736 (GRCm39)	V1131M	probably benign	Het
Abcd1	T	A	X: 72,781,064 (GRCm39)	L713H	probably damaging	Het
Actg1	T	C	11: 120,237,627 (GRCm39)	I52V	probably benign	Het
Ang	G	T	14: 51,339,275 (GRCm39)	D139Y	probably damaging	Het
Ano1	C	T	7: 144,143,749 (GRCm39)	G1011E	probably damaging	Het
Apoe	T	C	7: 19,431,479 (GRCm39)	Y46C	probably damaging	Het
Ash1l	T	C	3: 88,961,785 (GRCm39)	W2386R	probably damaging	Het
Asph	T	C	4: 9,598,277 (GRCm39)	D250G	probably damaging	Het
Atr	A	G	9: 95,756,296 (GRCm39)	N836S	probably benign	Het
Bltp1	G	A	3: 37,019,998 (GRCm39)	S2079N	probably damaging	Het
Btg3	A	G	16: 78,161,868 (GRCm39)	V114A	probably damaging	Het
C2	T	C	17: 35,082,854 (GRCm39)	T471A	possibly damaging	Het
C4b	T	A	17: 34,953,732 (GRCm39)	S959C	probably damaging	Het
Cap1	A	T	4: 122,758,518 (GRCm39)	S221T	probably benign	Het
Capn2	A	T	1: 182,300,485 (GRCm39)		probably benign	Het
Cd38	A	G	5: 44,058,775 (GRCm39)	S130G	probably damaging	Het
Cd8b1	A	G	6: 71,311,085 (GRCm39)	R202G	probably damaging	Het
Col22a1	A	G	15: 71,687,792 (GRCm39)		probably null	Het
Cps1	A	T	1: 67,205,534 (GRCm39)	E519V	probably benign	Het
Cyp2c38	G	A	19: 39,449,138 (GRCm39)	R72W	probably benign	Het
Cyp3a16	A	T	5: 145,392,309 (GRCm39)	Y215*	probably null	Het
F5	A	T	1: 164,012,533 (GRCm39)	K482N	probably damaging	Het
Gab1	T	C	8: 81,511,382 (GRCm39)	M488V	probably benign	Het
Gabpb1	A	G	2: 126,495,494 (GRCm39)	I86T	probably damaging	Het
Gbx2	C	T	1: 89,856,853 (GRCm39)	R179Q	probably damaging	Het
Gm11938	C	A	11: 99,493,972 (GRCm39)	R41L	probably damaging	Het
Gpn1	A	G	5: 31,654,664 (GRCm39)	D72G	probably damaging	Het
Greb1	A	G	12: 16,761,746 (GRCm39)	S545P	probably benign	Het
Hsd3b7	T	G	7: 127,401,442 (GRCm39)	L189R	probably damaging	Het
Iglc1	T	C	16: 18,880,660 (GRCm39)		probably benign	Het
Il18r1	T	C	1: 40,537,717 (GRCm39)	V494A	possibly damaging	Het
Inka1	T	C	9: 107,861,603 (GRCm39)	T238A	probably benign	Het
Itsn2	C	A	12: 4,750,315 (GRCm39)		probably benign	Het
Kcnn1	T	C	8: 71,299,179 (GRCm39)	K487R	probably benign	Het
Kdf1	G	A	4: 133,255,852 (GRCm39)	E190K	probably damaging	Het
Lama3	G	T	18: 12,586,807 (GRCm39)	L723F	probably damaging	Het
Lama5	T	C	2: 179,829,040 (GRCm39)	T2034A	probably benign	Het
Maged1	G	A	X: 93,582,530 (GRCm39)	P366S	probably damaging	Het
Med14	A	G	X: 12,585,936 (GRCm39)	I521T	probably benign	Het
Mia2	A	G	12: 59,201,196 (GRCm39)	K841E	probably damaging	Het
Mrgbp	G	A	2: 180,225,203 (GRCm39)	R53Q	possibly damaging	Het
Nmnat2	G	A	1: 152,988,171 (GRCm39)	V267I	probably benign	Het
Opn4	A	G	14: 34,315,785 (GRCm39)		probably null	Het
Or2d2b	T	A	7: 106,705,675 (GRCm39)	H131L	probably benign	Het
Or4f56	G	T	2: 111,703,818 (GRCm39)	C127*	probably null	Het
Or5p66	A	G	7: 107,886,169 (GRCm39)	S55P	probably damaging	Het
Or6k6	A	G	1: 173,945,298 (GRCm39)	Y95H	probably damaging	Het
Ovgp1	T	C	3: 105,893,883 (GRCm39)		probably benign	Het
Parp16	G	T	9: 65,141,086 (GRCm39)	D219Y	probably damaging	Het
Pitpnm2	G	C	5: 124,259,500 (GRCm39)	H1224Q	probably damaging	Het
Pkd1	C	T	17: 24,784,420 (GRCm39)	T322I	probably benign	Het
Pkhd1l1	A	C	15: 44,404,267 (GRCm39)	T2299P	probably damaging	Het
Plin4	T	C	17: 56,413,668 (GRCm39)	D319G	probably damaging	Het
Ppp6r3	A	C	19: 3,571,782 (GRCm39)	S122R	possibly damaging	Het
Pum3	A	T	19: 27,397,525 (GRCm39)		probably benign	Het
Pwwp3b	G	A	X: 138,137,429 (GRCm39)	G656S	possibly damaging	Het
Rims1	A	T	1: 22,503,227 (GRCm39)	F653I	probably benign	Het
Rnf113a1	A	G	X: 36,455,736 (GRCm39)	E231G	probably damaging	Het
Rnf41	T	C	10: 128,274,023 (GRCm39)	L225P	possibly damaging	Het
Ryr2	T	C	13: 11,607,979 (GRCm39)	E876G	probably damaging	Het
Slc25a10	G	A	11: 120,386,003 (GRCm39)	V115M	probably damaging	Het
Snx13	T	A	12: 35,188,116 (GRCm39)	I798N	probably benign	Het
Sri	A	T	5: 8,117,540 (GRCm39)	Q178L	probably benign	Het
Tex14	T	G	11: 87,365,243 (GRCm39)	D62E	probably damaging	Het
Tshz1	G	T	18: 84,033,105 (GRCm39)	H434Q	probably damaging	Het
Vegfd	A	G	X: 163,168,879 (GRCm39)	E57G	probably damaging	Het
Vmn2r112	T	A	17: 22,822,096 (GRCm39)	V258E	probably damaging	Het
Vmn2r59	A	G	7: 41,696,427 (GRCm39)	I105T	possibly damaging	Het
Vmn2r6	G	T	3: 64,454,760 (GRCm39)	T513N	probably benign	Het
Vmn2r72	A	T	7: 85,400,044 (GRCm39)	I335N	probably damaging	Het
Wiz	G	T	17: 32,580,680 (GRCm39)	T257K	probably damaging	Het
Xirp1	A	G	9: 119,847,444 (GRCm39)	S41P	probably benign	Het
Xirp1	T	C	9: 119,848,881 (GRCm39)	M1V	probably null	Het

Other mutations in Dennd10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01680:Dennd10	APN	19	60,805,972 (GRCm39)	missense	possibly damaging	0.81
IGL02644:Dennd10	APN	19	60,810,741 (GRCm39)	missense	possibly damaging	0.71
FR4340:Dennd10	UTSW	19	60,803,059 (GRCm39)	small insertion	probably benign
FR4976:Dennd10	UTSW	19	60,803,060 (GRCm39)	small insertion	probably benign
FR4976:Dennd10	UTSW	19	60,803,056 (GRCm39)	small insertion	probably benign
IGL02796:Dennd10	UTSW	19	60,806,081 (GRCm39)	intron	probably benign
R1613:Dennd10	UTSW	19	60,810,763 (GRCm39)	missense	possibly damaging	0.90
R1710:Dennd10	UTSW	19	60,806,021 (GRCm39)	missense	probably damaging	1.00
R2861:Dennd10	UTSW	19	60,803,232 (GRCm39)	missense	probably benign	0.01
R3698:Dennd10	UTSW	19	60,821,054 (GRCm39)	splice site	probably null
R4729:Dennd10	UTSW	19	60,823,309 (GRCm39)	missense	probably benign	0.03
R4844:Dennd10	UTSW	19	60,823,435 (GRCm39)	makesense	probably null
R4871:Dennd10	UTSW	19	60,819,252 (GRCm39)	missense	probably damaging	0.99
R5361:Dennd10	UTSW	19	60,814,324 (GRCm39)	missense	probably benign
R5396:Dennd10	UTSW	19	60,823,274 (GRCm39)	missense	probably benign	0.01
R7102:Dennd10	UTSW	19	60,821,034 (GRCm39)	missense	probably damaging	1.00
R7842:Dennd10	UTSW	19	60,819,317 (GRCm39)	missense	not run
R8903:Dennd10	UTSW	19	60,823,423 (GRCm39)	nonsense	probably null
RF033:Dennd10	UTSW	19	60,803,056 (GRCm39)	small insertion	probably benign
RF038:Dennd10	UTSW	19	60,803,056 (GRCm39)	small insertion	probably benign

Predicted Primers

PCR Primer
(F):5'- TCTAATGGAGAAGCCCTGTGG -3'
(R):5'- TTCAGTATGTCTCTAAAACTGCCC -3'

Sequencing Primer
(F):5'- GGTGTGGTGTTATCCTTCCAC -3'
(R):5'- GTATGTCTCTAAAACTGCCCTATATC -3'

Posted On

2014-12-04