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

Essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

R0533 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

57848815-57874405 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 57873207 bp (GRCm39)

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: 60,984,797 (GRCm39)		probably benign	Het
Abcb1b	A	T	5: 8,914,113 (GRCm39)		probably null	Het
Adcy10	A	G	1: 165,391,592 (GRCm39)	N1283S	probably benign	Het
Adgrb1	T	A	15: 74,413,408 (GRCm39)	W531R	probably damaging	Het
Ago4	A	G	4: 126,410,653 (GRCm39)	V246A	probably benign	Het
Arid5b	A	T	10: 68,021,863 (GRCm39)	D242E	probably damaging	Het
Arpp21	A	G	9: 111,955,573 (GRCm39)	V522A	probably benign	Het
Atg4b	T	A	1: 93,712,632 (GRCm39)		probably benign	Het
Capn12	T	C	7: 28,587,108 (GRCm39)	F359S	possibly damaging	Het
Ccdc88c	A	T	12: 100,920,541 (GRCm39)	I360N	probably damaging	Het
Clic3	A	G	2: 25,348,150 (GRCm39)	Y99C	probably damaging	Het
Cux1	T	C	5: 136,336,713 (GRCm39)	E925G	probably damaging	Het
Dnah10	G	A	5: 124,852,314 (GRCm39)		probably null	Het
Dnah17	A	G	11: 118,001,363 (GRCm39)	V860A	possibly damaging	Het
Etv5	C	T	16: 22,254,825 (GRCm39)		probably benign	Het
G3bp1	T	C	11: 55,389,452 (GRCm39)	F383L	probably damaging	Het
Gpm6a	A	G	8: 55,508,409 (GRCm39)		probably null	Het
Grid1	T	A	14: 35,031,342 (GRCm39)	Y312N	possibly damaging	Het
Gstm4	T	C	3: 107,950,841 (GRCm39)	N51S	probably benign	Het
Hid1	A	T	11: 115,239,635 (GRCm39)	I765N	probably damaging	Het
Hmmr	A	G	11: 40,600,816 (GRCm39)	V518A	unknown	Het
Itgb6	A	G	2: 60,499,541 (GRCm39)	V84A	probably benign	Het
Kbtbd4	A	G	2: 90,737,948 (GRCm39)	K233E	probably benign	Het
Kif15	A	T	9: 122,838,498 (GRCm39)		probably benign	Het
Klre1	T	C	6: 129,560,156 (GRCm39)	S143P	probably damaging	Het
Krt81	T	C	15: 101,359,270 (GRCm39)	D216G	probably benign	Het
Mctp2	G	T	7: 71,730,570 (GRCm39)	H868Q	probably benign	Het
Morc2b	G	C	17: 33,354,906 (GRCm39)	Y955*	probably null	Het
Myog	A	C	1: 134,218,211 (GRCm39)	N140H	possibly damaging	Het
Myrf	G	C	19: 10,195,526 (GRCm39)	T428S	probably benign	Het
Naip2	A	C	13: 100,298,290 (GRCm39)	I582S	probably benign	Het
Neil3	A	T	8: 54,091,810 (GRCm39)		probably null	Het
Nrg1	T	C	8: 32,321,273 (GRCm39)		probably null	Het
Or1o4	A	T	17: 37,591,182 (GRCm39)	L43*	probably null	Het
Or56a3b	G	A	7: 104,771,557 (GRCm39)	V298I	probably benign	Het
Or56b35	A	T	7: 104,963,579 (GRCm39)	M123L	probably benign	Het
Pramel16	A	T	4: 143,677,290 (GRCm39)	D96E	possibly damaging	Het
Pramel23	G	T	4: 143,424,590 (GRCm39)	C284*	probably null	Het
Ptger2	T	A	14: 45,226,439 (GRCm39)	N6K	possibly damaging	Het
Ryr1	T	A	7: 28,778,205 (GRCm39)	E2097V	probably damaging	Het
Sel1l	A	T	12: 91,786,868 (GRCm39)	F397Y	probably damaging	Het
Skint5	A	G	4: 113,685,064 (GRCm39)	V551A	unknown	Het
Slc39a12	A	G	2: 14,405,142 (GRCm39)	T245A	probably benign	Het
Syne1	C	T	10: 5,308,438 (GRCm39)	V706I	probably benign	Het
Tbc1d8	G	T	1: 39,411,855 (GRCm39)	Q994K	possibly damaging	Het
Tnrc6b	C	T	15: 80,760,854 (GRCm39)	T187I	probably benign	Het
Ttll6	G	A	11: 96,045,582 (GRCm39)	A600T	probably benign	Het
Ust	T	C	10: 8,123,844 (GRCm39)		probably benign	Het
Vmn2r71	GT	GTT	7: 85,268,426 (GRCm39)		probably null	Het
Vstm2a	C	T	11: 16,213,041 (GRCm39)	A142V	probably damaging	Het
Wfs1	T	A	5: 37,131,066 (GRCm39)		probably benign	Het
Wrap73	G	A	4: 154,236,106 (GRCm39)	G145D	probably damaging	Het
Wrap73	G	A	4: 154,240,611 (GRCm39)	V368M	possibly damaging	Het
Xrra1	T	A	7: 99,524,352 (GRCm39)		probably null	Het
Zfhx2	C	T	14: 55,301,547 (GRCm39)	V2146I	probably benign	Het
Zfp335	A	T	2: 164,749,842 (GRCm39)	L185*	probably null	Het

Other mutations in Fam83a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01061:Fam83a	APN	15	57,849,771 (GRCm39)	missense	possibly damaging	0.91
IGL01328:Fam83a	APN	15	57,849,901 (GRCm39)	missense	probably damaging	1.00
IGL01590:Fam83a	APN	15	57,873,173 (GRCm39)	missense	probably damaging	1.00
IGL02306:Fam83a	APN	15	57,858,704 (GRCm39)	missense	probably damaging	1.00
IGL03062:Fam83a	APN	15	57,856,473 (GRCm39)	splice site	probably null
R0110:Fam83a	UTSW	15	57,873,322 (GRCm39)	missense	probably benign	0.09
R0450:Fam83a	UTSW	15	57,873,322 (GRCm39)	missense	probably benign	0.09
R0469:Fam83a	UTSW	15	57,873,322 (GRCm39)	missense	probably benign	0.09
R1210:Fam83a	UTSW	15	57,858,644 (GRCm39)	missense	possibly damaging	0.95
R1386:Fam83a	UTSW	15	57,849,899 (GRCm39)	missense	probably damaging	1.00
R1474:Fam83a	UTSW	15	57,873,272 (GRCm39)	missense	probably benign	0.02
R1476:Fam83a	UTSW	15	57,873,341 (GRCm39)	missense	probably benign	0.00
R1969:Fam83a	UTSW	15	57,849,498 (GRCm39)	missense	probably damaging	1.00
R4463:Fam83a	UTSW	15	57,858,655 (GRCm39)	missense	probably damaging	1.00
R5088:Fam83a	UTSW	15	57,873,196 (GRCm39)	missense	probably benign	0.00
R5961:Fam83a	UTSW	15	57,872,992 (GRCm39)	missense	possibly damaging	0.90
R6307:Fam83a	UTSW	15	57,849,507 (GRCm39)	missense	possibly damaging	0.93
R6524:Fam83a	UTSW	15	57,858,736 (GRCm39)	critical splice donor site	probably null
R6676:Fam83a	UTSW	15	57,856,439 (GRCm39)	missense	possibly damaging	0.91
R7412:Fam83a	UTSW	15	57,849,821 (GRCm39)	missense	probably benign
R7447:Fam83a	UTSW	15	57,873,086 (GRCm39)	missense	probably benign	0.00
R7493:Fam83a	UTSW	15	57,849,569 (GRCm39)	missense	probably damaging	1.00
R8379:Fam83a	UTSW	15	57,873,196 (GRCm39)	missense	probably benign	0.00
R8424:Fam83a	UTSW	15	57,873,046 (GRCm39)	missense	possibly damaging	0.45
R8728:Fam83a	UTSW	15	57,873,062 (GRCm39)	missense	possibly damaging	0.64
R8856:Fam83a	UTSW	15	57,872,977 (GRCm39)	missense	probably damaging	1.00
R8925:Fam83a	UTSW	15	57,873,313 (GRCm39)	missense	probably benign	0.01
R8927:Fam83a	UTSW	15	57,873,313 (GRCm39)	missense	probably benign	0.01
R9514:Fam83a	UTSW	15	57,849,765 (GRCm39)	missense	possibly damaging	0.64
R9721:Fam83a	UTSW	15	57,849,513 (GRCm39)	missense	probably benign	0.00
X0023:Fam83a	UTSW	15	57,873,001 (GRCm39)	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