Mutagenetix > Incidental Mutation

Incidental Mutation 'R6328:Fam83d'

510795

Institutional Source

Beutler Lab

Gene Symbol

Fam83d

Ensembl Gene

ENSMUSG00000027654

Gene Name

family with sequence similarity 83, member D

Synonyms

2310007D09Rik

MMRRC Submission

044482-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

R6328 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

158610013-158628557 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 158627096 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 262 (G262S)

Ref Sequence

ENSEMBL: ENSMUSP00000029183 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029183]

AlphaFold

Q9D7I8

Predicted Effect

probably damaging
Transcript: ENSMUST00000029183
AA Change: G262S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000029183
Gene: ENSMUSG00000027654
AA Change: G262S

Domain	Start	End	E-Value	Type
Pfam:DUF1669	17	293	1.4e-100	PFAM
Pfam:PLDc_2	149	288	3.1e-12	PFAM
low complexity region	345	359	N/A	INTRINSIC
low complexity region	458	492	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151801

Meta Mutation Damage Score

0.7134

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

98% (57/58)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abat	C	T	16: 8,420,300 (GRCm39)		probably benign	Het
Abcb10	G	A	8: 124,688,756 (GRCm39)	R507W	probably damaging	Het
Actg1	T	C	11: 120,238,586 (GRCm39)	D80G	possibly damaging	Het
Actr5	A	G	2: 158,477,264 (GRCm39)	D405G	possibly damaging	Het
Ahnak	C	T	19: 8,984,512 (GRCm39)	T1932I	probably benign	Het
Ankk1	T	A	9: 49,327,371 (GRCm39)	T603S	possibly damaging	Het
Atp13a3	A	T	16: 30,155,053 (GRCm39)	F964I	probably damaging	Het
Atp6v1g3	A	G	1: 138,215,570 (GRCm39)	T77A	probably benign	Het
Bccip	A	G	7: 133,319,503 (GRCm39)	H198R	probably damaging	Het
Bsx	A	T	9: 40,785,519 (GRCm39)	R16W	probably damaging	Het
Ccdc88b	C	T	19: 6,826,406 (GRCm39)	R1103Q	probably damaging	Het
Cd59a	A	C	2: 103,941,103 (GRCm39)	Y27S	probably damaging	Het
Cdk20	A	G	13: 64,584,413 (GRCm39)	H162R	probably damaging	Het
Col6a2	C	T	10: 76,450,212 (GRCm39)	E240K	possibly damaging	Het
Ddr2	A	G	1: 169,814,634 (GRCm39)	V603A	possibly damaging	Het
Dgkz	A	G	2: 91,772,980 (GRCm39)	V359A	probably benign	Het
Dis3l2	T	A	1: 86,782,153 (GRCm39)	S223T	probably benign	Het
Dpysl4	A	G	7: 138,679,734 (GRCm39)	S535G	probably benign	Het
Dsp	A	T	13: 38,380,982 (GRCm39)	K1977*	probably null	Het
Dync2h1	A	T	9: 7,165,717 (GRCm39)	S515T	probably benign	Het
Epg5	A	G	18: 78,072,179 (GRCm39)	E2397G	possibly damaging	Het
Frmd4a	A	T	2: 4,595,509 (GRCm39)	T477S	probably damaging	Het
Gbp3	A	G	3: 142,274,819 (GRCm39)	E382G	probably benign	Het
Gltp	A	T	5: 114,808,572 (GRCm39)	C157S	possibly damaging	Het
Grb10	A	G	11: 11,887,905 (GRCm39)	S378P	probably damaging	Het
Gulo	G	T	14: 66,240,080 (GRCm39)	T126K	probably damaging	Het
H2-M10.6	T	A	17: 37,124,836 (GRCm39)	M251K	probably damaging	Het
Hecw1	T	C	13: 14,422,205 (GRCm39)	D967G	possibly damaging	Het
Htr3b	A	T	9: 48,858,933 (GRCm39)	D68E	probably damaging	Het
Igkv5-39	G	T	6: 69,877,489 (GRCm39)	S89*	probably null	Het
Kctd4	C	A	14: 76,200,037 (GRCm39)		probably benign	Het
Lmna	T	C	3: 88,393,813 (GRCm39)	Q255R	probably damaging	Het
Lsmem1	A	G	12: 40,230,656 (GRCm39)	I82T	possibly damaging	Het
Lyg2	T	A	1: 37,950,194 (GRCm39)	M45L	probably benign	Het
Myo5b	G	A	18: 74,750,064 (GRCm39)	A176T	probably damaging	Het
Nudt5	A	T	2: 5,869,248 (GRCm39)	K158I	possibly damaging	Het
Nufip1	C	T	14: 76,348,494 (GRCm39)	P41L	possibly damaging	Het
Or4f14b	A	T	2: 111,775,739 (GRCm39)	W21R	probably null	Het
Or52z13	A	T	7: 103,247,073 (GRCm39)	E183D	probably damaging	Het
Pcp2	T	C	8: 3,674,887 (GRCm39)	D22G	probably damaging	Het
Pdk2	G	C	11: 94,930,228 (GRCm39)	N69K	possibly damaging	Het
Pdlim7	G	T	13: 55,655,905 (GRCm39)		probably benign	Het
Ptprc	C	A	1: 138,041,416 (GRCm39)	E148*	probably null	Het
Rassf5	A	T	1: 131,108,405 (GRCm39)	V225E	probably damaging	Het
Rbm6	A	T	9: 107,664,458 (GRCm39)	M725K	probably benign	Het
Scn1a	T	A	2: 66,103,660 (GRCm39)	I1867F	probably damaging	Het
Sdk2	T	A	11: 113,684,581 (GRCm39)	Q1960L	probably damaging	Het
Setx	A	G	2: 29,064,474 (GRCm39)		probably benign	Het
Sgo2b	T	A	8: 64,381,345 (GRCm39)	R496*	probably null	Het
Slco1a1	C	T	6: 141,878,176 (GRCm39)	V222I	probably damaging	Het
Sntg2	A	C	12: 30,308,013 (GRCm39)	L224R	probably damaging	Het
Syt16	C	A	12: 74,313,467 (GRCm39)	C464*	probably null	Het
Tapbpl	T	A	6: 125,201,881 (GRCm39)	S420C	probably benign	Het
Tax1bp1	A	G	6: 52,723,694 (GRCm39)	E528G	probably benign	Het
Tmem168	T	C	6: 13,602,710 (GRCm39)	T219A	probably benign	Het
Zfp180	T	C	7: 23,804,981 (GRCm39)	F467L	probably damaging	Het

Other mutations in Fam83d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02066:Fam83d	APN	2	158,627,793 (GRCm39)	missense	probably benign	0.37
IGL02420:Fam83d	APN	2	158,627,655 (GRCm39)	missense	probably benign	0.00
R0277:Fam83d	UTSW	2	158,627,467 (GRCm39)	missense	probably benign	0.05
R0323:Fam83d	UTSW	2	158,627,467 (GRCm39)	missense	probably benign	0.05
R0349:Fam83d	UTSW	2	158,621,768 (GRCm39)	missense	possibly damaging	0.95
R0571:Fam83d	UTSW	2	158,627,611 (GRCm39)	nonsense	probably null
R0799:Fam83d	UTSW	2	158,621,808 (GRCm39)	missense	probably damaging	1.00
R1164:Fam83d	UTSW	2	158,625,170 (GRCm39)	missense	probably damaging	1.00
R1168:Fam83d	UTSW	2	158,610,443 (GRCm39)	missense	probably benign	0.01
R1186:Fam83d	UTSW	2	158,627,094 (GRCm39)	missense	probably damaging	1.00
R1816:Fam83d	UTSW	2	158,610,070 (GRCm39)	missense	possibly damaging	0.55
R2896:Fam83d	UTSW	2	158,627,898 (GRCm39)	missense	probably damaging	1.00
R4500:Fam83d	UTSW	2	158,627,187 (GRCm39)	missense	probably benign	0.10
R4597:Fam83d	UTSW	2	158,627,142 (GRCm39)	missense	possibly damaging	0.94
R5416:Fam83d	UTSW	2	158,627,552 (GRCm39)	missense	possibly damaging	0.75
R5866:Fam83d	UTSW	2	158,621,750 (GRCm39)	splice site	probably null
R6364:Fam83d	UTSW	2	158,625,179 (GRCm39)	critical splice donor site	probably null
R7031:Fam83d	UTSW	2	158,627,227 (GRCm39)	missense	probably benign	0.01
R8721:Fam83d	UTSW	2	158,627,522 (GRCm39)	missense	probably benign	0.33
R9208:Fam83d	UTSW	2	158,610,466 (GRCm39)	missense	probably damaging	1.00
R9801:Fam83d	UTSW	2	158,610,310 (GRCm39)	missense	probably damaging	1.00
Z1177:Fam83d	UTSW	2	158,627,108 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTTTAAAGCTGAGCCCGAGG -3'
(R):5'- TCATTCGCAGCAGATTGCC -3'

Sequencing Primer
(F):5'- CTGAGCCCGAGGGTTGG -3'
(R):5'- AGCAGATTGCCCAGTGTG -3'

Posted On

2018-04-02