Mutagenetix > Incidental Mutation

Incidental Mutation 'R5030:Dennd6b'

391657

Institutional Source

Beutler Lab

Gene Symbol

Dennd6b

Ensembl Gene

ENSMUSG00000015377

Gene Name

DENN domain containing 6B

Synonyms

Fam116b, 1700027J05Rik

MMRRC Submission

042621-MU

Accession Numbers

Essential gene?

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

Stock #

R5030 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

89066416-89080699 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 89080454 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 49 (T49S)

Ref Sequence

ENSEMBL: ENSMUSP00000077978 (fasta)

Gene Model

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

AlphaFold

Q9D9V7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000078953
AA Change: T49S

PolyPhen 2 Score 0.825 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000077978
Gene: ENSMUSG00000015377
AA Change: T49S

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

unknown
Transcript: ENSMUST00000229755
AA Change: T49S

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229935

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230823

Meta Mutation Damage Score

0.1163

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

98% (87/89)

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930584F24Rik	A	C	5: 26,684,783 (GRCm39)		noncoding transcript	Het
Abca15	A	T	7: 119,939,224 (GRCm39)	E206V	probably damaging	Het
Acy1	A	G	9: 106,310,596 (GRCm39)	F343L	probably benign	Het
Adam22	T	C	5: 8,229,645 (GRCm39)		probably benign	Het
Adgrv1	A	T	13: 81,607,948 (GRCm39)	D4041E	probably benign	Het
Akr1c14	T	C	13: 4,129,102 (GRCm39)	S166P	probably damaging	Het
Alms1	T	A	6: 85,604,946 (GRCm39)	C2199S	probably damaging	Het
Atm	A	T	9: 53,431,409 (GRCm39)	Y316*	probably null	Het
Atp1a1	T	C	3: 101,487,133 (GRCm39)	D892G	probably benign	Het
Auts2	A	G	5: 131,472,336 (GRCm39)	V581A	probably benign	Het
Bltp1	A	G	3: 36,997,548 (GRCm39)		probably benign	Het
Boll	T	A	1: 55,394,894 (GRCm39)	N57I	probably damaging	Het
C1s2	A	C	6: 124,612,547 (GRCm39)	V36G	possibly damaging	Het
Capza1	T	C	3: 104,748,154 (GRCm39)	Y70C	probably damaging	Het
Carnmt1	T	C	19: 18,668,950 (GRCm39)	S292P	possibly damaging	Het
Cemip2	T	G	19: 21,819,469 (GRCm39)	F1087V	probably benign	Het
Cyp2g1	T	G	7: 26,520,226 (GRCm39)	V486G	probably benign	Het
Dhx58	A	T	11: 100,586,963 (GRCm39)	I610N	probably damaging	Het
Elapor2	T	A	5: 9,478,502 (GRCm39)	N455K	probably damaging	Het
Fam170a	T	A	18: 50,415,021 (GRCm39)	N222K	probably benign	Het
Fbn1	A	G	2: 125,254,624 (GRCm39)	V213A	possibly damaging	Het
Frem3	A	C	8: 81,339,876 (GRCm39)	D723A	possibly damaging	Het
Fsip2	A	T	2: 82,818,836 (GRCm39)	K4856N	possibly damaging	Het
Galnt17	A	G	5: 130,905,351 (GRCm39)	V571A	probably damaging	Het
Gm6124	A	G	7: 38,872,454 (GRCm39)		noncoding transcript	Het
Gm8973	A	G	15: 98,904,136 (GRCm39)		noncoding transcript	Het
Gpd2	A	G	2: 57,194,417 (GRCm39)	T107A	probably damaging	Het
Hsd17b11	G	A	5: 104,151,158 (GRCm39)	A192V	probably damaging	Het
Igkv6-25	C	T	6: 70,192,426 (GRCm39)	Q4*	probably null	Het
Kalrn	A	G	16: 33,796,112 (GRCm39)	I1221T	probably benign	Het
Klhl9	G	T	4: 88,638,771 (GRCm39)	T490K	possibly damaging	Het
Lnpep	A	G	17: 17,799,571 (GRCm39)	V28A	probably damaging	Het
Lrrc37	G	A	11: 103,425,675 (GRCm39)	P1419S	unknown	Het
Man2c1	A	G	9: 57,047,923 (GRCm39)	H843R	probably benign	Het
Map1b	T	C	13: 99,570,682 (GRCm39)	K680E	unknown	Het
Metap2	A	T	10: 93,715,539 (GRCm39)		probably null	Het
Mfsd2a	A	T	4: 122,843,949 (GRCm39)	I340N	possibly damaging	Het
Mgll	T	C	6: 88,795,647 (GRCm39)		probably null	Het
Myh9	A	G	15: 77,691,998 (GRCm39)		probably benign	Het
Ncapd3	A	T	9: 26,983,062 (GRCm39)	I937F	probably damaging	Het
Neb	T	C	2: 52,224,504 (GRCm39)		probably benign	Het
Nova1	A	G	12: 46,747,030 (GRCm39)	S416P	probably damaging	Het
Oosp3	T	C	19: 11,678,308 (GRCm39)	W95R	probably benign	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or2t26	A	T	11: 49,039,188 (GRCm39)	M35L	probably benign	Het
Or5p76	T	A	7: 108,122,384 (GRCm39)	I258F	possibly damaging	Het
Or7e175	A	T	9: 20,049,363 (GRCm39)	K317M	probably benign	Het
Pcdha7	T	A	18: 37,108,501 (GRCm39)	S509T	probably damaging	Het
Pdgfrb	T	C	18: 61,198,207 (GRCm39)	V296A	probably benign	Het
Pdzd2	A	T	15: 12,592,494 (GRCm39)	L50*	probably null	Het
Plcl2	G	T	17: 50,914,347 (GRCm39)	R452L	possibly damaging	Het
Poldip3	A	T	15: 83,022,392 (GRCm39)	F131I	possibly damaging	Het
Pwwp3a	T	C	10: 80,076,209 (GRCm39)		probably benign	Het
Rffl	G	A	11: 82,703,543 (GRCm39)	R127*	probably null	Het
Sec24d	T	A	3: 123,152,550 (GRCm39)	V854E	probably damaging	Het
Sgo2a	T	A	1: 58,056,918 (GRCm39)	L1034*	probably null	Het
Slc39a4	C	T	15: 76,498,283 (GRCm39)	D385N	probably damaging	Het
Spaca1	A	T	4: 34,039,247 (GRCm39)	N95K	possibly damaging	Het
Spag17	C	T	3: 99,992,657 (GRCm39)	Q1718*	probably null	Het
Spdl1	C	T	11: 34,714,267 (GRCm39)	A141T	probably benign	Het
Stxbp3-ps	A	T	19: 9,535,714 (GRCm39)		noncoding transcript	Het
Supv3l1	G	T	10: 62,266,394 (GRCm39)	A594D	probably damaging	Het
Tcaf3	A	G	6: 42,573,867 (GRCm39)	V115A	probably benign	Het
Tmem131	T	C	1: 36,866,255 (GRCm39)	N483S	possibly damaging	Het
Tonsl	A	T	15: 76,522,301 (GRCm39)	C231S	probably damaging	Het
Trav9n-4	T	C	14: 53,532,305 (GRCm39)	F53S	possibly damaging	Het
Trgv7	G	T	13: 19,362,558 (GRCm39)	L82F	probably damaging	Het
Trim45	T	G	3: 100,835,388 (GRCm39)	V457G	probably damaging	Het
Trpm1	T	A	7: 63,885,579 (GRCm39)	I865N	probably damaging	Het
Trpm3	C	A	19: 22,676,130 (GRCm39)	L99I	probably benign	Het
Twist1	T	A	12: 34,008,440 (GRCm39)	L155Q	probably damaging	Het
Vac14	A	G	8: 111,437,018 (GRCm39)	E577G	possibly damaging	Het
Vmn1r184	T	C	7: 25,966,881 (GRCm39)	V209A	probably benign	Het
Xdh	C	T	17: 74,198,288 (GRCm39)	G1200R	probably damaging	Het
Zbbx	C	T	3: 74,990,990 (GRCm39)	D290N	possibly damaging	Het
Zbtb40	T	C	4: 136,725,263 (GRCm39)	T585A	probably benign	Het
Zc3h4	T	A	7: 16,156,155 (GRCm39)	D262E	unknown	Het
Zfp777	G	T	6: 48,014,601 (GRCm39)	D368E	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
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
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'- CGAAAAGTCCTGCTTCCTGG -3'
(R):5'- TACGTTAGGCGACACTCTAGG -3'

Sequencing Primer
(F):5'- TAGAGAAACCGCGCGGC -3'
(R):5'- AGGTGAACCCCTGCGTTTC -3'

Posted On

2016-06-06