Mutagenetix > Incidental Mutation

Incidental Mutation 'R0533:Fam83a'

49343

Institutional Source

Beutler Lab

Gene Symbol

Fam83a

Ensembl Gene

ENSMUSG00000051225

Gene Name

family with sequence similarity 83, member A

Synonyms

MMRRC Submission

038725-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R0533 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

57985419-58011009 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 58009811 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 345 (N345K)

Ref Sequence

ENSEMBL: ENSMUSP00000125464 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000160942]

AlphaFold

Q8K2P2

Predicted Effect

probably benign
Transcript: ENSMUST00000160942
AA Change: N345K

PolyPhen 2 Score 0.430 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000125464
Gene: ENSMUSG00000051225
AA Change: N345K

Domain	Start	End	E-Value	Type
Pfam:DUF1669	19	295	3.6e-102	PFAM
low complexity region	350	361	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161231

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.5%

Validation Efficiency

100% (57/57)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadat	T	G	8: 60,531,763		probably benign	Het
Abcb1b	A	T	5: 8,864,113		probably null	Het
Adcy10	A	G	1: 165,564,023	N1283S	probably benign	Het
Adgrb1	T	A	15: 74,541,559	W531R	probably damaging	Het
Ago4	A	G	4: 126,516,860	V246A	probably benign	Het
Arid5b	A	T	10: 68,186,033	D242E	probably damaging	Het
Arpp21	A	G	9: 112,126,505	V522A	probably benign	Het
Atg4b	T	A	1: 93,784,910		probably benign	Het
Capn12	T	C	7: 28,887,683	F359S	possibly damaging	Het
Ccdc88c	A	T	12: 100,954,282	I360N	probably damaging	Het
Clic3	A	G	2: 25,458,138	Y99C	probably damaging	Het
Cux1	T	C	5: 136,307,859	E925G	probably damaging	Het
Dnah10	G	A	5: 124,775,250		probably null	Het
Dnah17	A	G	11: 118,110,537	V860A	possibly damaging	Het
Etv5	C	T	16: 22,436,075		probably benign	Het
G3bp1	T	C	11: 55,498,626	F383L	probably damaging	Het
Gm13089	G	T	4: 143,698,020	C284*	probably null	Het
Gpm6a	A	G	8: 55,055,374		probably null	Het
Grid1	T	A	14: 35,309,385	Y312N	possibly damaging	Het
Gstm4	T	C	3: 108,043,525	N51S	probably benign	Het
Hid1	A	T	11: 115,348,809	I765N	probably damaging	Het
Hmmr	A	G	11: 40,709,989	V518A	unknown	Het
Itgb6	A	G	2: 60,669,197	V84A	probably benign	Het
Kbtbd4	A	G	2: 90,907,604	K233E	probably benign	Het
Kif15	A	T	9: 123,009,433		probably benign	Het
Klre1	T	C	6: 129,583,193	S143P	probably damaging	Het
Krt81	T	C	15: 101,461,389	D216G	probably benign	Het
Mctp2	G	T	7: 72,080,822	H868Q	probably benign	Het
Morc2b	G	C	17: 33,135,932	Y955*	probably null	Het
Myog	A	C	1: 134,290,473	N140H	possibly damaging	Het
Myrf	G	C	19: 10,218,162	T428S	probably benign	Het
Naip2	A	C	13: 100,161,782	I582S	probably benign	Het
Neil3	A	T	8: 53,638,775		probably null	Het
Nrg1	T	C	8: 31,831,245		probably null	Het
Olfr681	G	A	7: 105,122,350	V298I	probably benign	Het
Olfr689	A	T	7: 105,314,372	M123L	probably benign	Het
Olfr99	A	T	17: 37,280,291	L43*	probably null	Het
Pramef25	A	T	4: 143,950,720	D96E	possibly damaging	Het
Ptger2	T	A	14: 44,988,982	N6K	possibly damaging	Het
Ryr1	T	A	7: 29,078,780	E2097V	probably damaging	Het
Sel1l	A	T	12: 91,820,094	F397Y	probably damaging	Het
Skint5	A	G	4: 113,827,867	V551A	unknown	Het
Slc39a12	A	G	2: 14,400,331	T245A	probably benign	Het
Syne1	C	T	10: 5,358,438	V706I	probably benign	Het
Tbc1d8	G	T	1: 39,372,774	Q994K	possibly damaging	Het
Tnrc6b	C	T	15: 80,876,653	T187I	probably benign	Het
Ttll6	G	A	11: 96,154,756	A600T	probably benign	Het
Ust	T	C	10: 8,248,080		probably benign	Het
Vmn2r71	GT	GTT	7: 85,619,218		probably null	Het
Vstm2a	C	T	11: 16,263,041	A142V	probably damaging	Het
Wfs1	T	A	5: 36,973,722		probably benign	Het
Wrap73	G	A	4: 154,151,649	G145D	probably damaging	Het
Wrap73	G	A	4: 154,156,154	V368M	possibly damaging	Het
Xrra1	T	A	7: 99,875,145		probably null	Het
Zfhx2	C	T	14: 55,064,090	V2146I	probably benign	Het
Zfp335	A	T	2: 164,907,922	L185*	probably null	Het

Other mutations in Fam83a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01061:Fam83a	APN	15	57986375	missense	possibly damaging	0.91
IGL01328:Fam83a	APN	15	57986505	missense	probably damaging	1.00
IGL01590:Fam83a	APN	15	58009777	missense	probably damaging	1.00
IGL02306:Fam83a	APN	15	57995308	missense	probably damaging	1.00
IGL03062:Fam83a	APN	15	57993077	splice site	probably null
R0110:Fam83a	UTSW	15	58009926	missense	probably benign	0.09
R0450:Fam83a	UTSW	15	58009926	missense	probably benign	0.09
R0469:Fam83a	UTSW	15	58009926	missense	probably benign	0.09
R1210:Fam83a	UTSW	15	57995248	missense	possibly damaging	0.95
R1386:Fam83a	UTSW	15	57986503	missense	probably damaging	1.00
R1474:Fam83a	UTSW	15	58009876	missense	probably benign	0.02
R1476:Fam83a	UTSW	15	58009945	missense	probably benign	0.00
R1969:Fam83a	UTSW	15	57986102	missense	probably damaging	1.00
R4463:Fam83a	UTSW	15	57995259	missense	probably damaging	1.00
R5088:Fam83a	UTSW	15	58009800	missense	probably benign	0.00
R5961:Fam83a	UTSW	15	58009596	missense	possibly damaging	0.90
R6307:Fam83a	UTSW	15	57986111	missense	possibly damaging	0.93
R6524:Fam83a	UTSW	15	57995340	critical splice donor site	probably null
R6676:Fam83a	UTSW	15	57993043	missense	possibly damaging	0.91
R7412:Fam83a	UTSW	15	57986425	missense	probably benign
R7447:Fam83a	UTSW	15	58009690	missense	probably benign	0.00
R7493:Fam83a	UTSW	15	57986173	missense	probably damaging	1.00
R8379:Fam83a	UTSW	15	58009800	missense	probably benign	0.00
R8424:Fam83a	UTSW	15	58009650	missense	possibly damaging	0.45
R8728:Fam83a	UTSW	15	58009666	missense	possibly damaging	0.64
R8856:Fam83a	UTSW	15	58009581	missense	probably damaging	1.00
R8925:Fam83a	UTSW	15	58009917	missense	probably benign	0.01
R8927:Fam83a	UTSW	15	58009917	missense	probably benign	0.01
R9514:Fam83a	UTSW	15	57986369	missense	possibly damaging	0.64
R9721:Fam83a	UTSW	15	57986117	missense	probably benign	0.00
X0023:Fam83a	UTSW	15	58009605	missense	possibly damaging	0.72

Predicted Primers

PCR Primer
(F):5'- CAGGAACATCCTCTCCAAGTTCACG -3'
(R):5'- AGCCTTACAGCCAGGAAATTCTGC -3'

Sequencing Primer
(F):5'- TCCAAGTTCACGGGGCAAG -3'
(R):5'- CTGTAGGCCATGAGGCTG -3'

Posted On

2013-06-12