Mutagenetix > Incidental Mutation

Incidental Mutation 'R5509:Dennd6b'

431102

Institutional Source

Beutler Lab

Gene Symbol

Dennd6b

Ensembl Gene

ENSMUSG00000015377

Gene Name

DENN domain containing 6B

Synonyms

Fam116b, 1700027J05Rik

MMRRC Submission

043070-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.142) question?

Stock #

R5509 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

89066416-89080699 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 89069225 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 575 (P575S)

Ref Sequence

ENSEMBL: ENSMUSP00000077978 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078953] [ENSMUST00000109331] [ENSMUST00000229755]

AlphaFold

Q9D9V7

Predicted Effect

probably damaging
Transcript: ENSMUST00000078953
AA Change: P575S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000077978
Gene: ENSMUSG00000015377
AA Change: P575S

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

probably benign
Transcript: ENSMUST00000109331

SMART Domains

Protein: ENSMUSP00000104955
Gene: ENSMUSG00000036606

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Sema	34	452	8.87e-92	SMART
PSI	470	521	1.94e-10	SMART
PSI	616	669	4.09e-1	SMART
PSI	761	804	7.02e-8	SMART
IPT	805	896	8.14e-19	SMART
IPT	897	983	1.1e-15	SMART
IPT	985	1096	5.06e-6	SMART
Pfam:Plexin_cytopl	1274	1809	4.4e-251	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

Coding Region Coverage

1x: 98.6%
3x: 97.4%
10x: 95.5%
20x: 91.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	G	C	17: 46,635,185 (GRCm39)	Q273E	probably benign	Het
Acly	C	T	11: 100,405,805 (GRCm39)	R329Q	probably damaging	Het
Acsm2	T	C	7: 119,172,840 (GRCm39)	S152P	probably damaging	Het
Adamtsl4	A	T	3: 95,588,667 (GRCm39)	I515N	probably benign	Het
Ank3	G	A	10: 69,838,395 (GRCm39)	R1566K	possibly damaging	Het
Atp9a	T	C	2: 168,481,857 (GRCm39)	D879G	probably damaging	Het
Bmp8b	G	A	4: 123,008,369 (GRCm39)	D112N	possibly damaging	Het
Camk2d	T	C	3: 126,633,965 (GRCm39)	W496R	probably damaging	Het
Ccdc192	G	A	18: 57,671,156 (GRCm39)		probably null	Het
Cflar	T	C	1: 58,791,551 (GRCm39)	F285L	probably benign	Het
Cox16	T	C	12: 81,519,032 (GRCm39)	T176A	probably benign	Het
Cux1	G	T	5: 136,304,171 (GRCm39)	A1214D	probably benign	Het
Cyb5d1	C	A	11: 69,284,561 (GRCm39)		probably null	Het
Fbxl2	A	T	9: 113,814,415 (GRCm39)		probably null	Het
Gfpt2	T	C	11: 49,717,973 (GRCm39)	F483L	possibly damaging	Het
Glrx3	T	C	7: 137,046,751 (GRCm39)	C48R	probably damaging	Het
Invs	G	A	4: 48,396,337 (GRCm39)	V281M	probably damaging	Het
Kif13a	G	A	13: 46,905,591 (GRCm39)	A784V	probably benign	Het
Kmt2d	T	C	15: 98,737,557 (GRCm39)		probably benign	Het
Lmod2	A	G	6: 24,603,888 (GRCm39)	T288A	probably damaging	Het
Lrrc37a	T	C	11: 103,391,361 (GRCm39)	K1355E	probably benign	Het
Magi3	A	T	3: 103,922,818 (GRCm39)	S1300T	probably benign	Het
Mdm2	A	C	10: 117,526,517 (GRCm39)	D307E	probably damaging	Het
Mllt6	G	A	11: 97,560,326 (GRCm39)	S210N	possibly damaging	Het
Mroh4	T	C	15: 74,478,003 (GRCm39)	Y901C	probably benign	Het
Mtmr14	G	T	6: 113,230,768 (GRCm39)		probably null	Het
Mug2	A	T	6: 122,061,340 (GRCm39)	Q1420L	possibly damaging	Het
Net1	T	C	13: 3,934,320 (GRCm39)	Q459R	probably benign	Het
Nle1	T	C	11: 82,794,008 (GRCm39)	R343G	possibly damaging	Het
Npat	C	A	9: 53,481,542 (GRCm39)	N1083K	probably benign	Het
Nrp1	G	A	8: 129,152,396 (GRCm39)	G202R	possibly damaging	Het
Nsun4	C	T	4: 115,908,974 (GRCm39)	V529I	possibly damaging	Het
Or4b1d	T	A	2: 89,969,236 (GRCm39)	L82F	probably damaging	Het
Or4z4	T	A	19: 12,076,341 (GRCm39)	I221F	possibly damaging	Het
Or5b117	A	T	19: 13,431,332 (GRCm39)	L183Q	probably damaging	Het
Or8g21	T	C	9: 38,905,924 (GRCm39)	D269G	probably benign	Het
Podxl	A	T	6: 31,503,548 (GRCm39)	N264K	probably benign	Het
Ptprm	C	T	17: 66,996,353 (GRCm39)	A1245T	probably damaging	Het
Rdh12	T	A	12: 79,257,558 (GRCm39)		probably null	Het
Ryr2	T	A	13: 11,760,487 (GRCm39)	Y1532F	probably damaging	Het
Senp2	T	C	16: 21,859,272 (GRCm39)	F441S	probably damaging	Het
Snap23	C	A	2: 120,425,346 (GRCm39)	P111T	probably benign	Het
Sox2	A	G	3: 34,704,938 (GRCm39)	D125G	probably damaging	Het
Syne2	T	C	12: 75,968,018 (GRCm39)	W923R	probably damaging	Het
Tbc1d2b	T	C	9: 90,101,022 (GRCm39)	E656G	probably damaging	Het
Tbcd	A	G	11: 121,492,838 (GRCm39)	T892A	probably benign	Het
Tg	A	G	15: 66,699,142 (GRCm39)	I24V	probably benign	Het
Trpm3	A	T	19: 22,964,622 (GRCm39)	K1372N	probably damaging	Het
Ubc	A	T	5: 125,464,339 (GRCm39)	N329K	probably benign	Het
Vmn2r106	T	A	17: 20,498,684 (GRCm39)	H409L	probably damaging	Het
Wdfy3	T	A	5: 102,009,314 (GRCm39)	N2751Y	possibly damaging	Het
Zfp518a	T	A	19: 40,903,845 (GRCm39)	I1258K	possibly damaging	Het
Zfp91	T	C	19: 12,756,451 (GRCm39)	E131G	probably damaging	Het
Zfyve26	T	A	12: 79,293,295 (GRCm39)	R2027W	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
R6005:Dennd6b	UTSW	15	89,072,371 (GRCm39)	missense	possibly damaging	0.91
R6160:Dennd6b	UTSW	15	89,073,024 (GRCm39)	missense	probably damaging	0.97
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'- CCAATAGTCAGGGACCAGAC -3'
(R):5'- GTGAGAAGCCTCCTTGTATTGTC -3'

Sequencing Primer
(F):5'- TAGTCAGGGACCAGACTGTCATTC -3'
(R):5'- AAGCCTCCTTGTATTGTCCTGCC -3'

Posted On

2016-10-05