Mutagenetix > Incidental Mutation

Incidental Mutation 'R2020:Dennd6a'

223875

Institutional Source

Beutler Lab

Gene Symbol

Dennd6a

Ensembl Gene

ENSMUSG00000040818

Gene Name

DENN/MADD domain containing 6A

Synonyms

A630054L15Rik, Fam116a

MMRRC Submission

040029-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.270) question?

Stock #

R2020 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

26573856-26634322 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 26612003 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 131 (F131L)

Ref Sequence

ENSEMBL: ENSMUSP00000152966 (fasta)

Gene Model

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

AlphaFold

Q8BH65

Predicted Effect

probably damaging
Transcript: ENSMUST00000037585
AA Change: F355L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000039361
Gene: ENSMUSG00000040818
AA Change: F355L

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

probably damaging
Transcript: ENSMUST00000203874
AA Change: F355L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000144906
Gene: ENSMUSG00000040818
AA Change: F355L

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

probably damaging
Transcript: ENSMUST00000224111
AA Change: F131L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000224248
AA Change: F131L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000224378
AA Change: F131L

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225206

Meta Mutation Damage Score

0.6685

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.6%

Validation Efficiency

99% (87/88)

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012P17Rik	C	A	1: 158,968,912 (GRCm38)		noncoding transcript	Het
9530053A07Rik	T	C	7: 28,155,594 (GRCm38)	S1882P	probably benign	Het
Adam17	G	A	12: 21,349,875 (GRCm38)	R177C	probably damaging	Het
Ak7	G	A	12: 105,745,332 (GRCm38)		probably null	Het
Akap9	T	C	5: 3,961,967 (GRCm38)	V890A	probably damaging	Het
Alg6	A	G	4: 99,738,132 (GRCm38)	N59S	probably damaging	Het
Alkbh5	G	T	11: 60,538,549 (GRCm38)	A43S	probably benign	Het
Anxa2	C	A	9: 69,483,817 (GRCm38)	D162E	probably damaging	Het
Arap1	A	G	7: 101,401,518 (GRCm38)	H1136R	probably benign	Het
Arhgap18	A	G	10: 26,854,904 (GRCm38)	R121G	probably benign	Het
Arhgef4	A	T	1: 34,723,810 (GRCm38)	T716S	unknown	Het
Atg2a	T	C	19: 6,250,269 (GRCm38)		probably null	Het
Ccdc27	T	C	4: 154,033,313 (GRCm38)	I480V	probably null	Het
Cdipt	T	C	7: 126,976,933 (GRCm38)	V20A	possibly damaging	Het
Cgrrf1	C	T	14: 46,830,445 (GRCm38)		probably benign	Het
Chd7	G	A	4: 8,855,226 (GRCm38)	V2152I	probably benign	Het
Chd8	T	A	14: 52,215,241 (GRCm38)	S1274C	probably damaging	Het
Chuk	A	T	19: 44,107,343 (GRCm38)	M17K	possibly damaging	Het
Col14a1	C	T	15: 55,446,181 (GRCm38)		probably benign	Het
Col20a1	G	A	2: 181,013,163 (GRCm38)		probably null	Het
Cped1	A	G	6: 22,143,964 (GRCm38)	I570V	probably benign	Het
Cul9	C	G	17: 46,522,175 (GRCm38)	A1326P	probably damaging	Het
Ddx27	A	C	2: 167,033,771 (GRCm38)	Q674P	probably damaging	Het
Dhx38	G	A	8: 109,556,869 (GRCm38)		probably benign	Het
Dido1	G	T	2: 180,659,585 (GRCm38)	N2175K	unknown	Het
Dmxl1	T	A	18: 49,889,558 (GRCm38)	Y1654*	probably null	Het
Dock7	T	A	4: 98,959,101 (GRCm38)	H1658L	probably damaging	Het
Dync2h1	T	A	9: 7,122,772 (GRCm38)	E2061D	probably damaging	Het
Dync2h1	T	C	9: 7,162,925 (GRCm38)	I555V	probably benign	Het
Eif2ak2	T	C	17: 78,863,963 (GRCm38)	E337G	possibly damaging	Het
Fabp12	T	A	3: 10,250,149 (GRCm38)	D46V	probably benign	Het
Fech	C	T	18: 64,478,727 (GRCm38)	E79K	probably damaging	Het
Flnc	A	T	6: 29,444,363 (GRCm38)	I693F	probably damaging	Het
Foxp2	G	A	6: 15,324,644 (GRCm38)	C97Y	possibly damaging	Het
Grin2b	A	G	6: 135,733,896 (GRCm38)	M884T	probably benign	Het
Gtf2ird1	T	C	5: 134,417,093 (GRCm38)	D28G	probably damaging	Het
Gtf3c4	C	A	2: 28,833,894 (GRCm38)	G468W	possibly damaging	Het
Ift172	A	T	5: 31,267,241 (GRCm38)	L201*	probably null	Het
Il1rl2	C	A	1: 40,365,214 (GRCm38)	S498R	probably damaging	Het
Ildr1	C	T	16: 36,725,541 (GRCm38)	R489W	probably damaging	Het
Itga10	G	A	3: 96,652,490 (GRCm38)	G487D	probably damaging	Het
Klk8	A	G	7: 43,799,216 (GRCm38)	N128D	probably benign	Het
Lgr6	G	A	1: 135,075,275 (GRCm38)	T79M	probably damaging	Het
Med6	T	C	12: 81,573,877 (GRCm38)	T232A	probably benign	Het
Mgat4e	A	G	1: 134,541,322 (GRCm38)	L328P	probably damaging	Het
Mttp	A	G	3: 138,118,402 (GRCm38)	Y138H	probably damaging	Het
Ngef	T	C	1: 87,545,968 (GRCm38)	R31G	probably benign	Het
Nipsnap2	C	A	5: 129,753,223 (GRCm38)		probably null	Het
Nlgn2	G	T	11: 69,828,441 (GRCm38)	N194K	probably damaging	Het
Olfr1026	A	G	2: 85,923,743 (GRCm38)	I158M	probably benign	Het
Olfr1245	A	T	2: 89,574,961 (GRCm38)	M255K	possibly damaging	Het
Olfr1450	G	A	19: 12,954,332 (GRCm38)	V248I	possibly damaging	Het
Olfr357	G	A	2: 36,997,652 (GRCm38)	V281M	possibly damaging	Het
Olfr894	A	G	9: 38,219,432 (GRCm38)	Y203C	possibly damaging	Het
Pcca	T	A	14: 122,813,222 (GRCm38)	M101K	possibly damaging	Het
Plekha6	A	G	1: 133,284,970 (GRCm38)	T671A	possibly damaging	Het
Prex2	G	A	1: 11,162,312 (GRCm38)	V868M	probably damaging	Het
Prkcq	G	A	2: 11,279,521 (GRCm38)	V501I	probably benign	Het
Prom1	T	A	5: 44,011,253 (GRCm38)		probably benign	Het
Ptprd	A	G	4: 76,133,161 (GRCm38)	V41A	probably damaging	Het
Rab39	C	T	9: 53,686,398 (GRCm38)	G189E	possibly damaging	Het
Ret	T	C	6: 118,180,382 (GRCm38)	K236E	possibly damaging	Het
Rfx6	G	A	10: 51,720,057 (GRCm38)		probably null	Het
Rnf213	A	G	11: 119,461,918 (GRCm38)	T3916A	probably damaging	Het
Rpn1	A	G	6: 88,095,683 (GRCm38)	N336S	probably damaging	Het
Sag	G	A	1: 87,805,315 (GRCm38)	A2T	probably damaging	Het
Sco2	T	C	15: 89,371,860 (GRCm38)	Y197C	probably damaging	Het
Sec23b	T	C	2: 144,566,944 (GRCm38)	I183T	possibly damaging	Het
Sec24b	C	T	3: 129,987,728 (GRCm38)	V1166M	probably damaging	Het
Slc27a5	A	T	7: 12,993,412 (GRCm38)	F361Y	probably damaging	Het
Spaca9	A	G	2: 28,696,001 (GRCm38)	L17P	probably damaging	Het
Sqor	T	C	2: 122,804,107 (GRCm38)		probably null	Het
Stx18	A	G	5: 38,135,244 (GRCm38)	H230R	probably damaging	Het
Tas2r130	A	T	6: 131,630,769 (GRCm38)	I21N	probably damaging	Het
Tcaf3	A	G	6: 42,593,724 (GRCm38)	S365P	possibly damaging	Het
Tinagl1	G	A	4: 130,166,972 (GRCm38)	H351Y	probably damaging	Het
Tmc2	T	C	2: 130,232,385 (GRCm38)	Y333H	probably damaging	Het
Trp53bp2	A	T	1: 182,442,819 (GRCm38)	T395S	probably damaging	Het
Tsc22d1	T	C	14: 76,418,333 (GRCm38)	S751P	probably damaging	Het
Ttc30a1	A	G	2: 75,980,935 (GRCm38)	V268A	probably benign	Het
Ttn	A	G	2: 76,827,024 (GRCm38)		probably benign	Het
Ugdh	T	C	5: 65,416,925 (GRCm38)	Y425C	probably damaging	Het
Vmn1r115	G	A	7: 20,844,169 (GRCm38)	L273F	probably null	Het
Vmn2r109	A	T	17: 20,541,186 (GRCm38)	C636*	probably null	Het
Vmn2r59	A	C	7: 42,043,779 (GRCm38)	Y466D	probably damaging	Het
Zic5	C	T	14: 122,464,830 (GRCm38)	G163D	unknown	Het

Other mutations in Dennd6a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00427:Dennd6a	APN	14	26,608,613 (GRCm38)	missense	probably damaging	1.00
IGL01011:Dennd6a	APN	14	26,603,054 (GRCm38)	missense	probably damaging	0.99
IGL01395:Dennd6a	APN	14	26,616,901 (GRCm38)	nonsense	probably null
IGL01559:Dennd6a	APN	14	26,608,565 (GRCm38)	missense	probably damaging	1.00
IGL01590:Dennd6a	APN	14	26,619,352 (GRCm38)	missense	probably benign	0.40
IGL02187:Dennd6a	APN	14	26,606,926 (GRCm38)	missense	probably benign
IGL03296:Dennd6a	APN	14	26,616,960 (GRCm38)	critical splice donor site	probably null
R1831:Dennd6a	UTSW	14	26,606,954 (GRCm38)	missense	probably damaging	1.00
R1833:Dennd6a	UTSW	14	26,606,954 (GRCm38)	missense	probably damaging	1.00
R2032:Dennd6a	UTSW	14	26,604,749 (GRCm38)	missense	probably benign	0.42
R2036:Dennd6a	UTSW	14	26,608,119 (GRCm38)	missense	probably damaging	0.99
R3707:Dennd6a	UTSW	14	26,592,391 (GRCm38)	splice site	probably benign
R4112:Dennd6a	UTSW	14	26,628,518 (GRCm38)	intron	probably benign
R4728:Dennd6a	UTSW	14	26,627,420 (GRCm38)	missense	probably null	1.00
R5053:Dennd6a	UTSW	14	26,608,583 (GRCm38)	missense	probably damaging	1.00
R5760:Dennd6a	UTSW	14	26,612,040 (GRCm38)	missense	probably damaging	0.99
R5774:Dennd6a	UTSW	14	26,579,819 (GRCm38)	missense	probably benign
R5775:Dennd6a	UTSW	14	26,619,373 (GRCm38)	nonsense	probably null
R6238:Dennd6a	UTSW	14	26,616,658 (GRCm38)	critical splice donor site	probably null
R6446:Dennd6a	UTSW	14	26,629,534 (GRCm38)	missense	probably damaging	1.00
R6734:Dennd6a	UTSW	14	26,608,619 (GRCm38)	missense	possibly damaging	0.84
R7289:Dennd6a	UTSW	14	26,612,038 (GRCm38)	missense	probably damaging	1.00
R7436:Dennd6a	UTSW	14	26,579,710 (GRCm38)	nonsense	probably null
R7887:Dennd6a	UTSW	14	26,599,657 (GRCm38)	missense	possibly damaging	0.50
R8348:Dennd6a	UTSW	14	26,606,943 (GRCm38)	missense	possibly damaging	0.87
R8448:Dennd6a	UTSW	14	26,606,943 (GRCm38)	missense	possibly damaging	0.87
R8847:Dennd6a	UTSW	14	26,605,931 (GRCm38)	missense	probably benign	0.19
R9102:Dennd6a	UTSW	14	26,629,534 (GRCm38)	missense	probably damaging	0.99
R9536:Dennd6a	UTSW	14	26,608,603 (GRCm38)	nonsense	probably null
R9745:Dennd6a	UTSW	14	26,599,663 (GRCm38)	missense	possibly damaging	0.94
RF003:Dennd6a	UTSW	14	26,629,534 (GRCm38)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CGGAGTTTGTATGCCTTGATACC -3'
(R):5'- CCTTATCCAGGCTGTCTCCAAG -3'

Sequencing Primer
(F):5'- ACTCCAGTTCCAGGGGATCTAATG -3'
(R):5'- AGGCTGTCTCCAAGAATGTTACC -3'

Posted On

2014-08-25