Mutagenetix > Incidental Mutation

Incidental Mutation 'R1186:Fam83d'

102090

Institutional Source

Beutler Lab

Gene Symbol

Fam83d

Ensembl Gene

ENSMUSG00000027654

Gene Name

family with sequence similarity 83, member D

Synonyms

2310007D09Rik

MMRRC Submission

039258-MU

Accession Numbers

Essential gene?

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

Stock #

R1186 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

158610013-158628557 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 158627094 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 261 (D261G)

Ref Sequence

ENSEMBL: ENSMUSP00000029183 (fasta)

Gene Model

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

AlphaFold

Q9D7I8

Predicted Effect

probably damaging
Transcript: ENSMUST00000029183
AA Change: D261G

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

SMART Domains

Protein: ENSMUSP00000029183
Gene: ENSMUSG00000027654
AA Change: D261G

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

0.5482

Coding Region Coverage

1x: 99.5%
3x: 98.5%
10x: 95.7%
20x: 90.1%

Validation Efficiency

97% (69/71)

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020N01Rik	G	A	10: 21,497,551 (GRCm39)	R64Q	probably benign	Het
9530068E07Rik	G	A	11: 52,293,905 (GRCm39)	V49I	probably benign	Het
A2m	T	C	6: 121,638,493 (GRCm39)	S902P	probably benign	Het
Aatf	A	T	11: 84,361,375 (GRCm39)		probably benign	Het
Adamtsl1	A	G	4: 86,306,746 (GRCm39)	T1395A	probably benign	Het
Alpk2	T	C	18: 65,427,412 (GRCm39)		probably null	Het
Ank3	G	T	10: 69,703,290 (GRCm39)	A308S	probably damaging	Het
Arap1	A	G	7: 101,053,476 (GRCm39)		probably benign	Het
Bltp1	T	C	3: 37,050,461 (GRCm39)		probably benign	Het
C4b	T	C	17: 34,955,283 (GRCm39)	D769G	possibly damaging	Het
Cep350	A	G	1: 155,751,122 (GRCm39)	S2017P	probably damaging	Het
Cfap54	T	A	10: 92,711,856 (GRCm39)	I2704F	unknown	Het
Crip2	G	A	12: 113,108,579 (GRCm39)		probably benign	Het
Cyp4f14	T	C	17: 33,135,760 (GRCm39)	I34V	probably benign	Het
Dcstamp	A	G	15: 39,618,025 (GRCm39)		probably null	Het
Ddx5	T	C	11: 106,674,805 (GRCm39)		probably null	Het
Dnah2	A	T	11: 69,406,526 (GRCm39)	L572Q	probably damaging	Het
Espl1	G	A	15: 102,212,474 (GRCm39)	A527T	probably benign	Het
Fbxo34	T	C	14: 47,768,043 (GRCm39)	F468L	probably damaging	Het
Gabarapl1	A	T	6: 129,510,368 (GRCm39)		probably benign	Het
Galnt17	G	T	5: 131,140,580 (GRCm39)	T179K	probably damaging	Het
Gm6899	C	T	11: 26,543,685 (GRCm39)		probably benign	Het
Helz2	T	A	2: 180,872,921 (GRCm39)	R2433W	probably damaging	Het
Hivep3	T	C	4: 119,671,920 (GRCm39)		probably benign	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Ica1	A	G	6: 8,672,326 (GRCm39)	L225P	probably damaging	Het
Inpp5f	T	C	7: 128,296,307 (GRCm39)	I195T	probably benign	Het
Isyna1	C	A	8: 71,047,851 (GRCm39)	N115K	probably benign	Het
Ly6g6e	T	C	17: 35,296,984 (GRCm39)	F75S	probably benign	Het
Ly96	A	G	1: 16,771,118 (GRCm39)	D101G	possibly damaging	Het
Mapk9	A	G	11: 49,769,096 (GRCm39)	T243A	probably damaging	Het
Mcc	A	G	18: 44,892,470 (GRCm39)	V48A	probably benign	Het
Mcpt2	C	T	14: 56,281,402 (GRCm39)		probably benign	Het
Med24	T	C	11: 98,608,583 (GRCm39)		probably benign	Het
Mtbp	G	A	15: 55,428,067 (GRCm39)	G162S	probably null	Het
Mtfr2	G	A	10: 20,228,598 (GRCm39)	C48Y	probably benign	Het
Naip2	AGGG	AGG	13: 100,298,545 (GRCm39)		probably null	Het
Naip2	C	T	13: 100,298,489 (GRCm39)	A516T	possibly damaging	Het
Ncoa4-ps	A	C	12: 119,225,206 (GRCm39)		noncoding transcript	Het
Nup107	A	C	10: 117,613,051 (GRCm39)	Y292*	probably null	Het
Nwd2	C	T	5: 63,807,367 (GRCm39)		probably benign	Het
Nxpe4	A	C	9: 48,304,692 (GRCm39)	N260H	probably benign	Het
Ofcc1	C	T	13: 40,362,305 (GRCm39)	G206R	probably benign	Het
Or6z7	T	C	7: 6,483,541 (GRCm39)	I205V	probably benign	Het
Or8b42	T	C	9: 38,342,397 (GRCm39)	V273A	possibly damaging	Het
Or8b47	T	C	9: 38,435,453 (GRCm39)	S142P	probably damaging	Het
Or8k37	A	T	2: 86,469,807 (GRCm39)	L82M	probably damaging	Het
P2rx7	T	C	5: 122,808,514 (GRCm39)	Y299H	probably damaging	Het
Per3	T	A	4: 151,110,595 (GRCm39)	E401V	probably damaging	Het
Rbm34	C	A	8: 127,692,197 (GRCm39)	E182*	probably null	Het
Sdk2	C	T	11: 113,729,472 (GRCm39)		silent	Het
Senp2	T	C	16: 21,830,254 (GRCm39)	S38P	probably damaging	Het
Slc36a2	A	T	11: 55,055,057 (GRCm39)		probably null	Het
Spred1	A	T	2: 117,008,178 (GRCm39)	R361S	possibly damaging	Het
Spry2	A	G	14: 106,130,341 (GRCm39)	C282R	probably damaging	Het
Srp54b	T	C	12: 55,302,313 (GRCm39)		probably benign	Het
Taar8c	G	C	10: 23,977,463 (GRCm39)	Y116*	probably null	Het
Tchh	C	G	3: 93,355,353 (GRCm39)	R1598G	unknown	Het
Tex15	A	G	8: 34,061,661 (GRCm39)	M364V	probably benign	Het
Ttbk1	T	C	17: 46,778,057 (GRCm39)	R662G	probably damaging	Het
Ttc5	G	A	14: 51,004,683 (GRCm39)	Q374*	probably null	Het
Usp46	C	T	5: 74,162,783 (GRCm39)	A312T	probably benign	Het
Vmn1r176	A	T	7: 23,535,051 (GRCm39)	L34Q	probably damaging	Het
Vmn1r178	A	T	7: 23,593,317 (GRCm39)	R122*	probably null	Het
Vmn2r6	T	A	3: 64,472,488 (GRCm39)	M78L	probably benign	Het
Zfp407	A	T	18: 84,227,573 (GRCm39)	I2012N	probably benign	Het
Zfp980	G	A	4: 145,428,653 (GRCm39)	G461S	probably benign	Het
Zfyve26	G	A	12: 79,310,723 (GRCm39)	L161F	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
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
R6328:Fam83d	UTSW	2	158,627,096 (GRCm39)	missense	probably damaging	1.00
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'- GCATCTCCAGCCGATTCTCTAAGC -3'
(R):5'- TTCGGTCAGCCAGATGGTCAAAC -3'

Sequencing Primer
(F):5'- CTGCTGGCCTAAATACTTGAGAC -3'
(R):5'- GCCAGATGGTCAAACTTGCTATTG -3'

Posted On

2014-01-15