Mutagenetix > Incidental Mutation

Incidental Mutation 'R7125:Dennd3'

552287

Institutional Source

Beutler Lab

Gene Symbol

Dennd3

Ensembl Gene

ENSMUSG00000036661

Gene Name

DENN domain containing 3

Synonyms

E030003N15Rik

MMRRC Submission

045327-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.189) question?

Stock #

R7125 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

73384409-73444091 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 73405140 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 298 (I298F)

Ref Sequence

ENSEMBL: ENSMUSP00000046774 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043414] [ENSMUST00000173292]

AlphaFold

A2RT67

Predicted Effect

possibly damaging
Transcript: ENSMUST00000043414
AA Change: I298F

PolyPhen 2 Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000046774
Gene: ENSMUSG00000036661
AA Change: I298F

Domain	Start	End	E-Value	Type
Blast:uDENN	12	161	3e-78	BLAST
DENN	187	373	1.54e-62	SMART
dDENN	436	499	6.81e-14	SMART
WD40	1015	1054	3.68e1	SMART
WD40	1057	1098	3.32e-5	SMART
WD40	1232	1272	1.1e1	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000173292
AA Change: I298F

PolyPhen 2 Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000134002
Gene: ENSMUSG00000036661
AA Change: I298F

Domain	Start	End	E-Value	Type
Blast:uDENN	12	161	2e-78	BLAST
DENN	187	373	1.54e-62	SMART
dDENN	436	499	6.81e-14	SMART
WD40	1015	1054	3.68e1	SMART
WD40	1057	1098	3.32e-5	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

96% (48/50)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730455P16Rik	A	T	11: 80,255,751 (GRCm39)	C296S	probably damaging	Het
Ago3	T	C	4: 126,264,145 (GRCm39)	I354V	probably null	Het
Aldh1l1	G	A	6: 90,553,761 (GRCm39)		probably null	Het
Ankrd49	TAA	TA	9: 14,693,836 (GRCm39)		probably null	Het
B3gnt7	A	G	1: 86,233,099 (GRCm39)	Y115C	probably damaging	Het
Cacna1h	A	T	17: 25,602,510 (GRCm39)	M1506K	probably damaging	Het
Cars1	T	C	7: 143,138,510 (GRCm39)	T226A	probably benign	Het
Ccdc28b	T	A	4: 129,514,885 (GRCm39)	T75S	probably benign	Het
Cdc42bpg	A	G	19: 6,372,321 (GRCm39)	I1436V	probably damaging	Het
Cep152	A	T	2: 125,408,593 (GRCm39)	Y1320*	probably null	Het
Cntnap2	A	T	6: 46,965,580 (GRCm39)	Y797F	probably benign	Het
Coq8a	T	A	1: 179,996,366 (GRCm39)	N490I	probably damaging	Het
Csmd2	T	C	4: 128,389,955 (GRCm39)	L2230P		Het
Cyp4a14	A	T	4: 115,348,358 (GRCm39)	I373N	probably damaging	Het
Ddx1	A	G	12: 13,293,864 (GRCm39)	S86P	probably benign	Het
Disp1	C	A	1: 182,869,030 (GRCm39)	R1130L	probably damaging	Het
Dnah2	T	C	11: 69,327,008 (GRCm39)	T3533A	probably damaging	Het
Fam53b	T	C	7: 132,373,357 (GRCm39)	H27R	probably damaging	Het
Firrm	T	C	1: 163,789,631 (GRCm39)	T635A	probably benign	Het
Fyb1	G	A	15: 6,674,337 (GRCm39)	E658K	possibly damaging	Het
Gapvd1	T	C	2: 34,585,612 (GRCm39)	S996G	probably benign	Het
Gm47959	G	A	1: 82,978,503 (GRCm39)	G57S	unknown	Het
Golgb1	T	A	16: 36,738,325 (GRCm39)	H2262Q	possibly damaging	Het
Gpam	T	C	19: 55,064,767 (GRCm39)	T646A	probably benign	Het
Gpt2	G	A	8: 86,244,681 (GRCm39)	E325K	probably benign	Het
Hexd	C	T	11: 121,095,496 (GRCm39)		probably benign	Het
Micu2	A	T	14: 58,209,238 (GRCm39)	Y73*	probably null	Het
N4bp2l2	T	C	5: 150,573,894 (GRCm39)		probably null	Het
Or11h7	T	C	14: 50,891,041 (GRCm39)	C116R	possibly damaging	Het
Or1e31	T	C	11: 73,689,990 (GRCm39)	M198V	probably benign	Het
Or1m1	A	T	9: 18,666,174 (GRCm39)	Y252*	probably null	Het
Or51t4	T	C	7: 102,598,386 (GRCm39)	V238A	probably damaging	Het
Or5b112	A	T	19: 13,319,103 (GRCm39)		probably null	Het
P3r3urf	A	G	4: 116,030,667 (GRCm39)	M24V	probably benign	Het
Prkca	A	G	11: 107,874,848 (GRCm39)	Y365H	probably damaging	Het
Ptpre	C	T	7: 135,255,744 (GRCm39)	R155*	probably null	Het
Ryr2	T	A	13: 11,684,873 (GRCm39)	N3023Y	probably damaging	Het
S100a7a	A	G	3: 90,562,822 (GRCm39)	D3G	probably benign	Het
Scn2a	T	C	2: 65,594,277 (GRCm39)	F1709L	probably damaging	Het
Slc15a2	T	C	16: 36,602,660 (GRCm39)	E67G	probably damaging	Het
Slc25a22	A	G	7: 141,011,655 (GRCm39)	L195P	probably damaging	Het
Sp140	TTTTTTTTTTTTT	TTTTTTTTTTTTTTTTTT	1: 85,572,290 (GRCm39)		probably benign	Het
Stim1	T	A	7: 102,084,741 (GRCm39)	H564Q	possibly damaging	Het
Sulf2	C	T	2: 165,917,448 (GRCm39)	W855*	probably null	Het
Tenm3	T	C	8: 49,127,588 (GRCm39)	N30S	probably benign	Het
Trim59	T	C	3: 68,944,197 (GRCm39)	D381G	probably benign	Het
Ttc21b	T	C	2: 66,066,670 (GRCm39)	T328A	probably benign	Het
Ttc6	C	G	12: 57,623,125 (GRCm39)	Q175E	probably benign	Het
Vmn2r44	T	C	7: 8,370,941 (GRCm39)	I702V	probably damaging	Het
Zfp768	A	T	7: 126,943,959 (GRCm39)	F59L	probably damaging	Het

Other mutations in Dennd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Dennd3	APN	15	73,438,982 (GRCm39)	missense	probably benign	0.26
IGL00579:Dennd3	APN	15	73,412,691 (GRCm39)	missense	possibly damaging	0.63
IGL02101:Dennd3	APN	15	73,399,794 (GRCm39)	missense	possibly damaging	0.81
IGL02164:Dennd3	APN	15	73,416,297 (GRCm39)	missense	probably benign	0.26
IGL02389:Dennd3	APN	15	73,438,905 (GRCm39)	missense	probably damaging	1.00
IGL02604:Dennd3	APN	15	73,428,252 (GRCm39)	missense	probably damaging	1.00
IGL02697:Dennd3	APN	15	73,396,085 (GRCm39)	missense	possibly damaging	0.82
IGL02885:Dennd3	APN	15	73,440,545 (GRCm39)	missense	probably benign
IGL03356:Dennd3	APN	15	73,440,482 (GRCm39)	missense	probably benign	0.19
IGL03388:Dennd3	APN	15	73,416,208 (GRCm39)	missense	probably damaging	0.98
BB006:Dennd3	UTSW	15	73,436,423 (GRCm39)	missense	probably damaging	1.00
BB016:Dennd3	UTSW	15	73,436,423 (GRCm39)	missense	probably damaging	1.00
R0118:Dennd3	UTSW	15	73,436,925 (GRCm39)	missense	probably damaging	1.00
R0925:Dennd3	UTSW	15	73,405,284 (GRCm39)	missense	probably damaging	1.00
R1076:Dennd3	UTSW	15	73,412,582 (GRCm39)	missense	probably damaging	1.00
R1355:Dennd3	UTSW	15	73,412,703 (GRCm39)	splice site	probably benign
R1370:Dennd3	UTSW	15	73,412,703 (GRCm39)	splice site	probably benign
R1480:Dennd3	UTSW	15	73,404,695 (GRCm39)	missense	probably benign	0.20
R1727:Dennd3	UTSW	15	73,436,977 (GRCm39)	missense	possibly damaging	0.95
R1732:Dennd3	UTSW	15	73,409,267 (GRCm39)	splice site	probably benign
R1771:Dennd3	UTSW	15	73,426,950 (GRCm39)	missense	possibly damaging	0.71
R1776:Dennd3	UTSW	15	73,426,950 (GRCm39)	missense	possibly damaging	0.71
R1779:Dennd3	UTSW	15	73,394,357 (GRCm39)	critical splice donor site	probably null
R1838:Dennd3	UTSW	15	73,436,949 (GRCm39)	missense	probably damaging	1.00
R2146:Dennd3	UTSW	15	73,426,909 (GRCm39)	missense	probably benign	0.35
R2146:Dennd3	UTSW	15	73,395,345 (GRCm39)	missense	probably damaging	1.00
R2147:Dennd3	UTSW	15	73,395,336 (GRCm39)	missense	probably damaging	1.00
R2148:Dennd3	UTSW	15	73,426,909 (GRCm39)	missense	probably benign	0.35
R2149:Dennd3	UTSW	15	73,426,909 (GRCm39)	missense	probably benign	0.35
R2150:Dennd3	UTSW	15	73,426,909 (GRCm39)	missense	probably benign	0.35
R2174:Dennd3	UTSW	15	73,427,154 (GRCm39)	missense	probably damaging	1.00
R2295:Dennd3	UTSW	15	73,395,404 (GRCm39)	critical splice donor site	probably null
R2905:Dennd3	UTSW	15	73,429,495 (GRCm39)	missense	probably damaging	1.00
R3106:Dennd3	UTSW	15	73,436,973 (GRCm39)	nonsense	probably null
R3757:Dennd3	UTSW	15	73,394,083 (GRCm39)	missense	probably benign	0.00
R3785:Dennd3	UTSW	15	73,419,426 (GRCm39)	missense	possibly damaging	0.89
R3786:Dennd3	UTSW	15	73,419,426 (GRCm39)	missense	possibly damaging	0.89
R3787:Dennd3	UTSW	15	73,419,426 (GRCm39)	missense	possibly damaging	0.89
R3847:Dennd3	UTSW	15	73,414,581 (GRCm39)	missense	possibly damaging	0.64
R4369:Dennd3	UTSW	15	73,412,658 (GRCm39)	missense	probably damaging	0.98
R4601:Dennd3	UTSW	15	73,439,009 (GRCm39)	missense	probably damaging	0.99
R4666:Dennd3	UTSW	15	73,442,709 (GRCm39)	missense	probably damaging	1.00
R4680:Dennd3	UTSW	15	73,405,225 (GRCm39)	missense	possibly damaging	0.82
R4708:Dennd3	UTSW	15	73,395,344 (GRCm39)	missense	probably damaging	1.00
R4789:Dennd3	UTSW	15	73,394,131 (GRCm39)	missense	probably damaging	1.00
R4920:Dennd3	UTSW	15	73,412,574 (GRCm39)	missense	probably benign	0.13
R5043:Dennd3	UTSW	15	73,399,785 (GRCm39)	missense	probably benign	0.00
R5074:Dennd3	UTSW	15	73,419,144 (GRCm39)	missense	probably damaging	1.00
R5410:Dennd3	UTSW	15	73,419,297 (GRCm39)	missense	probably benign	0.02
R5421:Dennd3	UTSW	15	73,438,964 (GRCm39)	missense	probably benign
R5560:Dennd3	UTSW	15	73,404,744 (GRCm39)	missense	probably damaging	1.00
R6008:Dennd3	UTSW	15	73,438,929 (GRCm39)	missense	possibly damaging	0.88
R6357:Dennd3	UTSW	15	73,428,321 (GRCm39)	missense	possibly damaging	0.49
R6563:Dennd3	UTSW	15	73,416,229 (GRCm39)	missense	probably damaging	0.98
R6687:Dennd3	UTSW	15	73,428,215 (GRCm39)	missense	possibly damaging	0.64
R6837:Dennd3	UTSW	15	73,429,542 (GRCm39)	missense	probably damaging	1.00
R6910:Dennd3	UTSW	15	73,426,965 (GRCm39)	missense	probably benign	0.01
R7297:Dennd3	UTSW	15	73,429,459 (GRCm39)	missense	probably damaging	1.00
R7524:Dennd3	UTSW	15	73,396,095 (GRCm39)	nonsense	probably null
R7580:Dennd3	UTSW	15	73,428,296 (GRCm39)	missense	possibly damaging	0.89
R7653:Dennd3	UTSW	15	73,434,275 (GRCm39)	missense	probably damaging	0.99
R7731:Dennd3	UTSW	15	73,434,216 (GRCm39)	missense	probably damaging	0.99
R7767:Dennd3	UTSW	15	73,394,079 (GRCm39)	missense	probably benign
R7806:Dennd3	UTSW	15	73,442,624 (GRCm39)	missense	possibly damaging	0.87
R7860:Dennd3	UTSW	15	73,412,657 (GRCm39)	missense	probably damaging	0.97
R7902:Dennd3	UTSW	15	73,439,964 (GRCm39)	critical splice donor site	probably benign
R7929:Dennd3	UTSW	15	73,436,423 (GRCm39)	missense	probably damaging	1.00
R8218:Dennd3	UTSW	15	73,384,622 (GRCm39)	missense	probably benign	0.31
R8436:Dennd3	UTSW	15	73,434,198 (GRCm39)	missense	probably damaging	1.00
R8444:Dennd3	UTSW	15	73,442,672 (GRCm39)	missense	probably benign	0.09
R8698:Dennd3	UTSW	15	73,394,154 (GRCm39)	missense	possibly damaging	0.52
R8967:Dennd3	UTSW	15	73,419,426 (GRCm39)	missense	possibly damaging	0.89
R9147:Dennd3	UTSW	15	73,429,463 (GRCm39)	missense	probably damaging	1.00
R9148:Dennd3	UTSW	15	73,429,463 (GRCm39)	missense	probably damaging	1.00
R9194:Dennd3	UTSW	15	73,419,153 (GRCm39)	missense	probably benign	0.04
R9449:Dennd3	UTSW	15	73,429,477 (GRCm39)	missense	probably damaging	1.00
R9501:Dennd3	UTSW	15	73,419,041 (GRCm39)	missense	probably benign	0.01
R9616:Dennd3	UTSW	15	73,440,563 (GRCm39)	missense	probably benign
R9730:Dennd3	UTSW	15	73,426,959 (GRCm39)	missense	probably damaging	1.00
RF006:Dennd3	UTSW	15	73,419,441 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCAGTGTCTCTAAGCATCTCAG -3'
(R):5'- GCTTCCTGCACAGTGAAGTC -3'

Sequencing Primer
(F):5'- AGTGTCTCTAAGCATCTCAGACTTTG -3'
(R):5'- GTGAAGTCACAGGAGTTTATTCCTCC -3'

Posted On

2019-05-15