Mutagenetix > Incidental Mutation

Incidental Mutation 'R9194:Dennd3'

697875

Institutional Source

Beutler Lab

Gene Symbol

Dennd3

Ensembl Gene

ENSMUSG00000036661

Gene Name

DENN domain containing 3

Synonyms

E030003N15Rik

MMRRC Submission

068953-MU

Accession Numbers

Essential gene?

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

Stock #

R9194 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

73384409-73444091 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 73419153 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 648 (L648P)

Ref Sequence

ENSEMBL: ENSMUSP00000046774 (fasta)

Gene Model

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

AlphaFold

A2RT67

Predicted Effect

probably benign
Transcript: ENSMUST00000043414
AA Change: L648P

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000046774
Gene: ENSMUSG00000036661
AA Change: L648P

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

probably benign
Transcript: ENSMUST00000173292
AA Change: L648P

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000134002
Gene: ENSMUSG00000036661
AA Change: L648P

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: 99.7%
20x: 99.0%

Validation Efficiency

94% (44/47)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	A	T	9: 57,166,371 (GRCm39)	M1K	probably null	Het
Adra1b	A	T	11: 43,726,263 (GRCm39)	V218D	probably damaging	Het
Ank1	A	G	8: 23,606,255 (GRCm39)	S1216G	possibly damaging	Het
Celsr1	G	T	15: 85,917,286 (GRCm39)	S229*	probably null	Het
Cfap44	G	T	16: 44,288,824 (GRCm39)	D1525Y	probably damaging	Het
Chd8	A	T	14: 52,439,650 (GRCm39)	M2341K	probably benign	Het
Chst11	A	G	10: 83,027,319 (GRCm39)	T249A	probably damaging	Het
Cttnbp2	A	G	6: 18,434,850 (GRCm39)	V336A	probably benign	Het
Dhx16	T	C	17: 36,200,173 (GRCm39)	V864A	probably benign	Het
Enpp3	G	A	10: 24,675,092 (GRCm39)	H362Y	possibly damaging	Het
Ess2	A	T	16: 17,728,028 (GRCm39)	D79E	probably damaging	Het
Fam83c	T	A	2: 155,671,299 (GRCm39)	Y712F	probably damaging	Het
Helz	C	T	11: 107,561,113 (GRCm39)	Q1392*	probably null	Het
Il18rap	C	T	1: 40,582,177 (GRCm39)	T366M	probably benign	Het
Iqch	T	C	9: 63,479,961 (GRCm39)	H143R	probably benign	Het
Itgb5	A	G	16: 33,720,881 (GRCm39)	D315G	probably damaging	Het
Kcnmb2	A	G	3: 32,236,174 (GRCm39)	K141R	probably benign	Het
Lrrc37a	G	A	11: 103,391,676 (GRCm39)	P1250S	probably benign	Het
Mcm5	T	G	8: 75,836,962 (GRCm39)	V110G	probably damaging	Het
Med27	G	A	2: 29,361,312 (GRCm39)	D163N	probably damaging	Het
Mms22l	C	A	4: 24,600,185 (GRCm39)	Y1129*	probably null	Het
Mov10l1	G	A	15: 88,931,023 (GRCm39)	R1081H	probably damaging	Het
Mtpap	C	T	18: 4,380,834 (GRCm39)	Q171*	probably null	Het
Mtpap	C	G	18: 4,380,833 (GRCm39)	N170K	probably benign	Het
Myo6	T	A	9: 80,153,836 (GRCm39)	F271I	unknown	Het
Ndst4	C	T	3: 125,518,385 (GRCm39)	S354L	probably benign	Het
Nfatc1	C	T	18: 80,751,258 (GRCm39)	A26T	probably benign	Het
Or7d11	C	A	9: 19,966,543 (GRCm39)	C72F	probably damaging	Het
Piezo2	G	C	18: 63,250,815 (GRCm39)	T428S	probably benign	Het
Prkch	A	G	12: 73,768,616 (GRCm39)	E462G	probably damaging	Het
Rbm20	A	G	19: 53,823,131 (GRCm39)	Y576C	probably damaging	Het
Riok3	TTTCATT	TTT	18: 12,282,642 (GRCm39)		probably null	Het
Rpp40	C	T	13: 36,080,898 (GRCm39)	D302N	probably benign	Het
Sash1	A	G	10: 8,615,969 (GRCm39)	V631A	probably damaging	Het
Sstr2	A	G	11: 113,515,203 (GRCm39)	T41A	probably benign	Het
Thsd7b	T	A	1: 129,843,371 (GRCm39)	V861E	possibly damaging	Het
Tomm70a	A	G	16: 56,973,070 (GRCm39)	K603E	possibly damaging	Het
Tpd52l2	T	A	2: 181,141,683 (GRCm39)	M22K	possibly damaging	Het
Tpst1	T	A	5: 130,130,860 (GRCm39)	L110Q	possibly damaging	Het
Tram1l1	A	G	3: 124,115,137 (GRCm39)	Y99C	possibly damaging	Het
Ttc39b	A	G	4: 83,181,977 (GRCm39)	F81L	possibly damaging	Het
Ubr1	A	G	2: 120,778,325 (GRCm39)	Y238H	probably damaging	Het
Vmn1r202	G	T	13: 22,686,316 (GRCm39)	H34N	possibly damaging	Het
Vmn1r36	G	A	6: 66,693,036 (GRCm39)	Q280*	probably null	Het
Xpnpep1	A	T	19: 53,000,289 (GRCm39)	V187E	possibly damaging	Het
Zfp592	A	G	7: 80,674,349 (GRCm39)	I438V	probably benign	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
R7125:Dennd3	UTSW	15	73,405,140 (GRCm39)	missense	possibly damaging	0.50
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
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'- CAGGACCATGCTAATTACATGC -3'
(R):5'- AAGACCTCTGTGATGAGCCG -3'

Sequencing Primer
(F):5'- TAGTTCTCAAAGTGACCCCTAAGTC -3'
(R):5'- TCTGTGATGAGCCGCCTGAG -3'

Posted On

2022-02-07