Mutagenetix > Incidental Mutation

Incidental Mutation 'R2036:Dennd6a'

224685

Institutional Source

Beutler Lab

Gene Symbol

Dennd6a

Ensembl Gene

ENSMUSG00000040818

Gene Name

DENN domain containing 6A

Synonyms

A630054L15Rik, Fam116a

MMRRC Submission

040043-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.243) question?

Stock #

R2036 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

26295013-26355477 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 26329274 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 56 (Q56L)

Ref Sequence

ENSEMBL: ENSMUSP00000153200 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037585] [ENSMUST00000203874] [ENSMUST00000224111] [ENSMUST00000224248] [ENSMUST00000224378]

AlphaFold

Q8BH65

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037585
AA Change: Q280L

PolyPhen 2 Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000039361
Gene: ENSMUSG00000040818
AA Change: Q280L

Domain	Start	End	E-Value	Type
low complexity region	17	51	N/A	INTRINSIC
Pfam:Avl9	59	200	2.9e-11	PFAM
Pfam:DENN	165	371	1.1e-7	PFAM
Pfam:SPA	265	373	4.2e-18	PFAM
low complexity region	379	390	N/A	INTRINSIC
low complexity region	412	423	N/A	INTRINSIC
low complexity region	526	541	N/A	INTRINSIC
low complexity region	554	563	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000203874
AA Change: Q280L

PolyPhen 2 Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000144906
Gene: ENSMUSG00000040818
AA Change: Q280L

Domain	Start	End	E-Value	Type
low complexity region	17	51	N/A	INTRINSIC
Pfam:Avl9	59	200	2.6e-11	PFAM
Pfam:DENN	165	371	9.7e-8	PFAM
Pfam:SPA	265	373	3.7e-18	PFAM
low complexity region	379	390	N/A	INTRINSIC
low complexity region	412	423	N/A	INTRINSIC
low complexity region	526	537	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000224111
AA Change: Q56L

PolyPhen 2 Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000224248
AA Change: Q56L

PolyPhen 2 Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)

Predicted Effect

probably damaging
Transcript: ENSMUST00000224378
AA Change: Q56L

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225206

Meta Mutation Damage Score

0.7868

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

100% (58/58)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930415H17Rik	C	T	11: 99,576,358 (GRCm39)	C3Y	unknown	Het
Abr	G	T	11: 76,343,176 (GRCm39)	T547K	probably benign	Het
Akr1c21	T	C	13: 4,626,305 (GRCm39)	Y110H	probably damaging	Het
Ankar	T	A	1: 72,705,689 (GRCm39)	K556*	probably null	Het
Anks1b	T	C	10: 90,805,715 (GRCm39)	V431A	probably damaging	Het
Ap5b1	T	C	19: 5,618,897 (GRCm39)	S106P	possibly damaging	Het
Arhgap17	T	C	7: 122,917,717 (GRCm39)	N156D	possibly damaging	Het
Arhgap35	T	C	7: 16,297,058 (GRCm39)	E669G	probably damaging	Het
Arhgap44	T	C	11: 64,932,318 (GRCm39)	M201V	possibly damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Atg4c	C	T	4: 99,106,376 (GRCm39)	T112M	possibly damaging	Het
Bcl11a	A	T	11: 24,114,087 (GRCm39)	N477Y	possibly damaging	Het
Brinp3	A	T	1: 146,577,579 (GRCm39)	I205F	possibly damaging	Het
Capza2	T	C	6: 17,660,777 (GRCm39)	F159S	probably damaging	Het
Cd40	T	C	2: 164,904,221 (GRCm39)	C61R	probably benign	Het
Cdc25c	G	C	18: 34,871,292 (GRCm39)	L275V	probably damaging	Het
Cdh23	A	G	10: 60,301,822 (GRCm39)	I415T	possibly damaging	Het
Clnk	A	T	5: 38,910,143 (GRCm39)		probably null	Het
Ctcfl	C	T	2: 172,943,778 (GRCm39)	R524Q	possibly damaging	Het
Cyb5r4	T	G	9: 86,924,932 (GRCm39)		probably benign	Het
Ddb1	T	A	19: 10,588,186 (GRCm39)		probably benign	Het
Ddx51	C	A	5: 110,804,491 (GRCm39)	Q526K	probably benign	Het
Dhdds	T	C	4: 133,698,410 (GRCm39)	E142G	probably damaging	Het
Dnai1	A	G	4: 41,632,225 (GRCm39)	H553R	probably damaging	Het
Fryl	T	C	5: 73,179,887 (GRCm39)	N2908S	probably benign	Het
Fryl	C	A	5: 73,265,305 (GRCm39)		probably null	Het
Fut9	A	G	4: 25,620,322 (GRCm39)	I164T	probably damaging	Het
Gba2	G	A	4: 43,568,118 (GRCm39)		probably benign	Het
Gm11627	C	T	11: 102,467,580 (GRCm39)	V33I	unknown	Het
Helz2	T	A	2: 180,879,272 (GRCm39)	H782L	probably benign	Het
Kcnmb3	A	G	3: 32,526,531 (GRCm39)	V220A	probably damaging	Het
Kif20a	T	C	18: 34,761,515 (GRCm39)	S303P	possibly damaging	Het
Kif22	A	T	7: 126,630,126 (GRCm39)	V470E	possibly damaging	Het
Majin	C	T	19: 6,263,342 (GRCm39)	T132M	probably benign	Het
Mboat7	A	G	7: 3,688,671 (GRCm39)		probably null	Het
Mkrn2	C	A	6: 115,588,875 (GRCm39)	P206Q	probably benign	Het
Mphosph9	G	A	5: 124,442,274 (GRCm39)	T358M	probably damaging	Het
Nkd1	A	G	8: 89,318,305 (GRCm39)	D210G	probably damaging	Het
Or4c110	C	T	2: 88,831,976 (GRCm39)	V219I	probably damaging	Het
Or4k41	T	A	2: 111,279,971 (GRCm39)	L162Q	possibly damaging	Het
Or5ae2	G	T	7: 84,505,566 (GRCm39)		probably benign	Het
Or5b95	G	C	19: 12,658,165 (GRCm39)	G231A	probably damaging	Het
Or5p69	T	A	7: 107,966,947 (GRCm39)	N83K	probably benign	Het
Or6c35	G	A	10: 129,169,541 (GRCm39)	D264N	probably benign	Het
Or9s15	A	T	1: 92,524,328 (GRCm39)	E29V	probably benign	Het
Pi4ka	A	G	16: 17,120,976 (GRCm39)	Y63H	probably damaging	Het
Plekha1	A	G	7: 130,503,922 (GRCm39)	R210G	probably damaging	Het
Ppp2r2c	C	T	5: 37,109,748 (GRCm39)	T369I	possibly damaging	Het
Relch	A	G	1: 105,670,979 (GRCm39)	D1029G	probably damaging	Het
Rmnd1	T	C	10: 4,357,884 (GRCm39)	D12G	probably damaging	Het
Rtn2	A	G	7: 19,027,664 (GRCm39)	K120E	probably damaging	Het
Sh3tc1	A	G	5: 35,873,508 (GRCm39)	S30P	probably benign	Het
Tln2	T	C	9: 67,179,986 (GRCm39)	E795G	possibly damaging	Het
Tmprss11d	T	A	5: 86,457,128 (GRCm39)	Y177F	probably damaging	Het
Trrap	C	A	5: 144,765,372 (GRCm39)	D2529E	probably benign	Het
Vmn2r58	A	G	7: 41,513,417 (GRCm39)	Y409H	probably benign	Het
Wdr72	T	A	9: 74,058,876 (GRCm39)	V323D	probably damaging	Het

Other mutations in Dennd6a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00427:Dennd6a	APN	14	26,329,768 (GRCm39)	missense	probably damaging	1.00
IGL01011:Dennd6a	APN	14	26,324,209 (GRCm39)	missense	probably damaging	0.99
IGL01395:Dennd6a	APN	14	26,338,056 (GRCm39)	nonsense	probably null
IGL01559:Dennd6a	APN	14	26,329,720 (GRCm39)	missense	probably damaging	1.00
IGL01590:Dennd6a	APN	14	26,340,507 (GRCm39)	missense	probably benign	0.40
IGL02187:Dennd6a	APN	14	26,328,081 (GRCm39)	missense	probably benign
IGL03296:Dennd6a	APN	14	26,338,115 (GRCm39)	critical splice donor site	probably null
R1831:Dennd6a	UTSW	14	26,328,109 (GRCm39)	missense	probably damaging	1.00
R1833:Dennd6a	UTSW	14	26,328,109 (GRCm39)	missense	probably damaging	1.00
R2020:Dennd6a	UTSW	14	26,333,158 (GRCm39)	missense	probably damaging	0.99
R2032:Dennd6a	UTSW	14	26,325,904 (GRCm39)	missense	probably benign	0.42
R3707:Dennd6a	UTSW	14	26,313,546 (GRCm39)	splice site	probably benign
R4112:Dennd6a	UTSW	14	26,349,673 (GRCm39)	intron	probably benign
R4728:Dennd6a	UTSW	14	26,348,575 (GRCm39)	missense	probably null	1.00
R5053:Dennd6a	UTSW	14	26,329,738 (GRCm39)	missense	probably damaging	1.00
R5760:Dennd6a	UTSW	14	26,333,195 (GRCm39)	missense	probably damaging	0.99
R5774:Dennd6a	UTSW	14	26,300,974 (GRCm39)	missense	probably benign
R5775:Dennd6a	UTSW	14	26,340,528 (GRCm39)	nonsense	probably null
R6238:Dennd6a	UTSW	14	26,337,813 (GRCm39)	critical splice donor site	probably null
R6446:Dennd6a	UTSW	14	26,350,689 (GRCm39)	missense	probably damaging	1.00
R6734:Dennd6a	UTSW	14	26,329,774 (GRCm39)	missense	possibly damaging	0.84
R7289:Dennd6a	UTSW	14	26,333,193 (GRCm39)	missense	probably damaging	1.00
R7436:Dennd6a	UTSW	14	26,300,865 (GRCm39)	nonsense	probably null
R7887:Dennd6a	UTSW	14	26,320,812 (GRCm39)	missense	possibly damaging	0.50
R8348:Dennd6a	UTSW	14	26,328,098 (GRCm39)	missense	possibly damaging	0.87
R8448:Dennd6a	UTSW	14	26,328,098 (GRCm39)	missense	possibly damaging	0.87
R8847:Dennd6a	UTSW	14	26,327,086 (GRCm39)	missense	probably benign	0.19
R9102:Dennd6a	UTSW	14	26,350,689 (GRCm39)	missense	probably damaging	0.99
R9536:Dennd6a	UTSW	14	26,329,758 (GRCm39)	nonsense	probably null
R9745:Dennd6a	UTSW	14	26,320,818 (GRCm39)	missense	possibly damaging	0.94
RF003:Dennd6a	UTSW	14	26,350,689 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CTGCATTGCCACGTTCTCAG -3'
(R):5'- ACTGAACCTGACTCAATCTTCTCAC -3'

Sequencing Primer
(F):5'- GTTCATTTTTCAGATCAAGCTGTCAG -3'
(R):5'- ATTCTGAGAAAGCTGTTGCATGGAC -3'

Posted On

2014-08-25