Mutagenetix > Incidental Mutation

Incidental Mutation 'R6160:Dennd6b'

489835

Institutional Source

Beutler Lab

Gene Symbol

Dennd6b

Ensembl Gene

ENSMUSG00000015377

Gene Name

DENN domain containing 6B

Synonyms

Fam116b, 1700027J05Rik

MMRRC Submission

044307-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.137) question?

Stock #

R6160 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89066416-89080699 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89073024 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 171 (L171P)

Ref Sequence

ENSEMBL: ENSMUSP00000077978 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078953] [ENSMUST00000229755]

AlphaFold

Q9D9V7

Predicted Effect

probably damaging
Transcript: ENSMUST00000078953
AA Change: L171P

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000077978
Gene: ENSMUSG00000015377
AA Change: L171P

Domain	Start	End	E-Value	Type
low complexity region	4	31	N/A	INTRINSIC
Pfam:Avl9	42	181	1.1e-8	PFAM
Pfam:DENN	148	344	1.2e-8	PFAM
Pfam:SPA	248	358	6.7e-16	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184207

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229416

Predicted Effect

probably benign
Transcript: ENSMUST00000229755

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229935

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230111

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230823

Meta Mutation Damage Score

0.6965

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

94% (62/66)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	T	A	7: 40,642,950 (GRCm39)	S297R	possibly damaging	Het
5530400C23Rik	A	G	6: 133,271,289 (GRCm39)	E111G	possibly damaging	Het
8030423J24Rik	T	A	13: 71,032,029 (GRCm39)	S34T	unknown	Het
Ace3	T	A	11: 105,885,558 (GRCm39)	W20R	possibly damaging	Het
Adgrf1	A	G	17: 43,621,578 (GRCm39)	E605G	probably damaging	Het
Arhgap44	G	A	11: 65,053,375 (GRCm39)		probably benign	Het
Atm	A	C	9: 53,402,259 (GRCm39)	H1404Q	probably benign	Het
AW209491	A	G	13: 14,811,306 (GRCm39)	E53G	probably damaging	Het
Bhmt1b	G	A	18: 87,775,245 (GRCm39)	C256Y	probably damaging	Het
Cdt1	C	T	8: 123,298,107 (GRCm39)	T366I	probably benign	Het
Cerk	A	T	15: 86,026,974 (GRCm39)	C179S	probably benign	Het
Cldn10	T	C	14: 119,099,255 (GRCm39)	V123A	possibly damaging	Het
Clip1	T	C	5: 123,751,604 (GRCm39)	K726E	possibly damaging	Het
Dcaf12	A	T	4: 41,294,043 (GRCm39)	Y365N	probably damaging	Het
Dip2c	G	A	13: 9,583,290 (GRCm39)	V91I	probably benign	Het
Dlec1	A	G	9: 118,972,387 (GRCm39)	I1431V	probably benign	Het
Egln1	T	C	8: 125,675,231 (GRCm39)	D188G	probably damaging	Het
Enpp5	T	A	17: 44,392,259 (GRCm39)	N229K	possibly damaging	Het
Fmo1	T	G	1: 162,663,867 (GRCm39)	I221L	probably benign	Het
Fsip2	G	A	2: 82,818,289 (GRCm39)	W4674*	probably null	Het
Gm12185	G	A	11: 48,799,255 (GRCm39)	Q413*	probably null	Het
Gm7298	A	T	6: 121,741,886 (GRCm39)	H436L	probably benign	Het
Gucy2c	G	A	6: 136,717,684 (GRCm39)	Q430*	probably null	Het
Hgd	A	G	16: 37,433,660 (GRCm39)	H134R	probably damaging	Het
Hoxd8	A	G	2: 74,536,343 (GRCm39)	E151G	probably damaging	Het
Il15ra	A	G	2: 11,724,827 (GRCm39)	D99G	probably damaging	Het
Ints4	T	A	7: 97,158,790 (GRCm39)		probably null	Het
Itgb1	T	A	8: 129,446,764 (GRCm39)	F426L	possibly damaging	Het
Itpr1	A	C	6: 108,495,716 (GRCm39)	I2534L	probably benign	Het
Kcnq4	T	A	4: 120,573,756 (GRCm39)	H235L	probably damaging	Het
Kcnt1	T	A	2: 25,782,395 (GRCm39)	I178N	probably damaging	Het
Kidins220	A	G	12: 25,047,310 (GRCm39)	D252G	probably damaging	Het
Krt23	A	G	11: 99,376,544 (GRCm39)	I204T	probably damaging	Het
Lipo4	A	G	19: 33,480,693 (GRCm39)	L225P	probably damaging	Het
Lrp3	T	C	7: 34,903,548 (GRCm39)	D245G	possibly damaging	Het
Mmp16	A	G	4: 18,051,857 (GRCm39)	D282G	probably damaging	Het
Myo1c	A	T	11: 75,541,568 (GRCm39)	H18L	probably benign	Het
Myo1f	C	A	17: 33,823,318 (GRCm39)	P981Q	probably benign	Het
Nle1	A	T	11: 82,798,983 (GRCm39)	F33I	probably benign	Het
Nlrp4e	T	G	7: 23,020,731 (GRCm39)	M406R	probably damaging	Het
Obscn	A	T	11: 58,942,611 (GRCm39)	V4857E	probably damaging	Het
Palb2	A	T	7: 121,727,643 (GRCm39)		probably null	Het
Phospho1	A	T	11: 95,721,450 (GRCm39)	E22V	probably damaging	Het
Pom121l2	C	T	13: 22,167,838 (GRCm39)	S703L	possibly damaging	Het
Prex2	T	C	1: 11,064,075 (GRCm39)	L20P	probably damaging	Het
Psmb7	T	C	2: 38,533,393 (GRCm39)	T45A	probably damaging	Het
R3hdm2	T	C	10: 127,320,376 (GRCm39)	I532T	probably damaging	Het
Rcn1	T	C	2: 105,222,362 (GRCm39)	D208G	probably damaging	Het
Recql5	A	G	11: 115,823,613 (GRCm39)		probably null	Het
Resf1	G	A	6: 149,233,005 (GRCm39)		probably null	Het
Rfc4	A	T	16: 22,933,433 (GRCm39)	I242N	probably damaging	Het
Rims1	T	C	1: 22,503,235 (GRCm39)	Y650C	probably damaging	Het
Shc2	C	T	10: 79,462,853 (GRCm39)		probably null	Het
Slc14a2	A	T	18: 78,202,190 (GRCm39)		probably null	Het
Slc6a6	A	T	6: 91,716,995 (GRCm39)		probably null	Het
Synj2	C	A	17: 6,058,336 (GRCm39)	H275N	possibly damaging	Het
T	A	T	17: 8,660,618 (GRCm39)	T410S	probably benign	Het
Tars3	A	G	7: 65,332,527 (GRCm39)	I543V	probably benign	Het
Tbc1d8	T	A	1: 39,411,484 (GRCm39)	K1117N	probably damaging	Het
Tm7sf3	A	T	6: 146,507,787 (GRCm39)	L425*	probably null	Het
Trav14-3	A	G	14: 54,000,978 (GRCm39)	Y63C	probably damaging	Het
Tyro3	A	C	2: 119,633,751 (GRCm39)	D133A	probably damaging	Het
Vmn1r119	T	G	7: 20,745,740 (GRCm39)	H214P	possibly damaging	Het
Vmn2r120	G	A	17: 57,816,418 (GRCm39)	P646S	probably benign	Het
Zbtb7c	A	T	18: 76,278,904 (GRCm39)	Y454F	probably benign	Het
Zmym2	T	C	14: 57,187,766 (GRCm39)	L1144P	probably damaging	Het

Other mutations in Dennd6b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02709:Dennd6b	APN	15	89,075,125 (GRCm39)	splice site	probably benign
IGL03109:Dennd6b	APN	15	89,069,188 (GRCm39)	utr 3 prime	probably benign
IGL03133:Dennd6b	APN	15	89,072,726 (GRCm39)	critical splice acceptor site	probably null
P0016:Dennd6b	UTSW	15	89,071,180 (GRCm39)	missense	probably benign
PIT4791001:Dennd6b	UTSW	15	89,070,955 (GRCm39)	critical splice donor site	probably null
R0025:Dennd6b	UTSW	15	89,070,386 (GRCm39)	missense	probably benign	0.11
R0025:Dennd6b	UTSW	15	89,070,386 (GRCm39)	missense	probably benign	0.11
R0268:Dennd6b	UTSW	15	89,080,432 (GRCm39)	missense	probably benign	0.01
R0344:Dennd6b	UTSW	15	89,080,432 (GRCm39)	missense	probably benign	0.01
R0391:Dennd6b	UTSW	15	89,071,417 (GRCm39)	missense	probably damaging	1.00
R1453:Dennd6b	UTSW	15	89,073,075 (GRCm39)	missense	probably damaging	0.99
R1655:Dennd6b	UTSW	15	89,080,543 (GRCm39)	missense	unknown
R1670:Dennd6b	UTSW	15	89,069,540 (GRCm39)	intron	probably benign
R1765:Dennd6b	UTSW	15	89,074,506 (GRCm39)	nonsense	probably null
R1968:Dennd6b	UTSW	15	89,074,544 (GRCm39)	missense	possibly damaging	0.63
R3692:Dennd6b	UTSW	15	89,071,030 (GRCm39)	splice site	probably benign
R4344:Dennd6b	UTSW	15	89,072,866 (GRCm39)	missense	probably benign	0.00
R4736:Dennd6b	UTSW	15	89,069,795 (GRCm39)	missense	probably benign	0.00
R5030:Dennd6b	UTSW	15	89,080,454 (GRCm39)	missense	possibly damaging	0.82
R5058:Dennd6b	UTSW	15	89,071,553 (GRCm39)	missense	possibly damaging	0.69
R5509:Dennd6b	UTSW	15	89,069,225 (GRCm39)	missense	probably damaging	1.00
R6005:Dennd6b	UTSW	15	89,072,371 (GRCm39)	missense	possibly damaging	0.91
R6535:Dennd6b	UTSW	15	89,070,570 (GRCm39)	missense	probably damaging	1.00
R6646:Dennd6b	UTSW	15	89,070,387 (GRCm39)	missense	probably damaging	0.99
R7098:Dennd6b	UTSW	15	89,072,890 (GRCm39)	missense	probably damaging	1.00
R7169:Dennd6b	UTSW	15	89,073,055 (GRCm39)	missense	possibly damaging	0.80
R7381:Dennd6b	UTSW	15	89,070,376 (GRCm39)	missense	possibly damaging	0.84
R7706:Dennd6b	UTSW	15	89,069,447 (GRCm39)	missense	probably benign	0.19
R8070:Dennd6b	UTSW	15	89,069,576 (GRCm39)	missense	probably benign	0.29
R8803:Dennd6b	UTSW	15	89,070,383 (GRCm39)	missense	probably benign	0.01
R8927:Dennd6b	UTSW	15	89,069,780 (GRCm39)	frame shift	probably null
R9291:Dennd6b	UTSW	15	89,071,590 (GRCm39)	missense	possibly damaging	0.95
X0063:Dennd6b	UTSW	15	89,069,623 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCATGATGGGTAGGTTCAGG -3'
(R):5'- TCTGTGGCAGCTGTTCAATG -3'

Sequencing Primer
(F):5'- GGTAGGTTCAGGGTCTGCC -3'
(R):5'- CAGCTGTTCAATGGGGTGGC -3'

Posted On

2017-10-10