Mutagenetix > Incidental Mutation

Incidental Mutation 'R1724:Fam83f'

191692

Institutional Source

Beutler Lab

Gene Symbol

Fam83f

Ensembl Gene

ENSMUSG00000022408

Gene Name

family with sequence similarity 83, member F

Synonyms

MMRRC Submission

039756-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R1724 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80556048-80584626 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 80576468 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 373 (V373G)

Ref Sequence

ENSEMBL: ENSMUSP00000023044 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023044]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023044
AA Change: V373G

PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000023044
Gene: ENSMUSG00000022408
AA Change: V373G

Domain	Start	End	E-Value	Type
Pfam:DUF1669	15	291	1.5e-111	PFAM
Pfam:PLDc_2	148	286	6.4e-12	PFAM
low complexity region	346	360	N/A	INTRINSIC
low complexity region	447	458	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230325

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230612

Meta Mutation Damage Score

0.1023

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 93.0%

Validation Efficiency

98% (50/51)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts13	T	C	2: 26,881,306 (GRCm39)	V761A	probably benign	Het
Arap1	G	T	7: 101,049,733 (GRCm39)	A1032S	possibly damaging	Het
Atg4d	C	T	9: 21,179,741 (GRCm39)	H230Y	probably damaging	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
Bcdin3d	T	A	15: 99,368,561 (GRCm39)	K213*	probably null	Het
Cep295nl	T	A	11: 118,223,854 (GRCm39)	E330V	probably benign	Het
Col10a1	A	G	10: 34,271,714 (GRCm39)	Y562C	probably damaging	Het
Col9a2	G	A	4: 120,911,099 (GRCm39)	R578Q	probably damaging	Het
Creld1	A	G	6: 113,461,535 (GRCm39)	D85G	possibly damaging	Het
Cth	A	T	3: 157,619,364 (GRCm39)	V153D	probably damaging	Het
Dazap2	T	A	15: 100,515,884 (GRCm39)	Y71N	probably damaging	Het
Ddah1	A	C	3: 145,597,261 (GRCm39)	D269A	probably damaging	Het
Dhx9	A	C	1: 153,334,234 (GRCm39)	D975E	probably benign	Het
Erich3	T	A	3: 154,467,964 (GRCm39)	D805E	possibly damaging	Het
Gabpb2	T	C	3: 95,113,826 (GRCm39)	D19G	probably damaging	Het
Gabrr1	T	A	4: 33,161,651 (GRCm39)	M325K	probably damaging	Het
Galntl5	T	G	5: 25,425,120 (GRCm39)	N379K	possibly damaging	Het
Gm10277	TC	T	11: 77,676,828 (GRCm39)		probably null	Het
Gm42791	C	A	5: 148,896,311 (GRCm39)		probably benign	Het
Gm5356	G	A	8: 89,913,684 (GRCm39)		noncoding transcript	Het
Kifap3	C	T	1: 163,610,666 (GRCm39)	R49*	probably null	Het
Kmt2c	C	T	5: 25,520,003 (GRCm39)	G2036R	probably damaging	Het
Lce1l	A	T	3: 92,757,726 (GRCm39)	V44E	unknown	Het
Lmbr1	T	A	5: 29,566,081 (GRCm39)	E48D	probably benign	Het
Nes	C	A	3: 87,884,748 (GRCm39)	N958K	probably benign	Het
Nwd1	A	C	8: 73,438,248 (GRCm39)	H1432P	probably damaging	Het
Or2d2b	G	A	7: 106,705,409 (GRCm39)	H220Y	probably benign	Het
Or52h9	T	C	7: 104,202,435 (GRCm39)	F103S	probably damaging	Het
Osgepl1	A	G	1: 53,357,062 (GRCm39)	T75A	probably benign	Het
Perm1	T	C	4: 156,302,529 (GRCm39)	S358P	possibly damaging	Het
Pramel14	C	T	4: 143,720,002 (GRCm39)	G121D	probably benign	Het
Ptk2	A	G	15: 73,114,255 (GRCm39)	V701A	possibly damaging	Het
Sdc4	G	T	2: 164,273,206 (GRCm39)	Q35K	probably benign	Het
Secisbp2	A	G	13: 51,824,882 (GRCm39)	S377G	probably benign	Het
Spag16	G	C	1: 70,532,941 (GRCm39)	G540A	probably damaging	Het
Sun1	T	A	5: 139,221,480 (GRCm39)	D517E	probably benign	Het
Taf3	A	G	2: 9,957,177 (GRCm39)	V177A	probably benign	Het
Thbs2	A	G	17: 14,906,162 (GRCm39)	L246P	possibly damaging	Het
Tle7	C	A	8: 110,836,795 (GRCm39)	T227N	probably damaging	Het
Trpm1	G	T	7: 63,885,569 (GRCm39)	G862*	probably null	Het
Trpm8	A	T	1: 88,278,578 (GRCm39)	T584S	possibly damaging	Het
Ythdc2	T	C	18: 44,961,757 (GRCm39)	S2P	probably benign	Het
Zc2hc1c	G	T	12: 85,336,586 (GRCm39)	R81L	probably benign	Het
Zfp292	C	A	4: 34,811,237 (GRCm39)	L602F	probably damaging	Het

Other mutations in Fam83f

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02971:Fam83f	APN	15	80,556,350 (GRCm39)	missense	probably benign
R0212:Fam83f	UTSW	15	80,574,779 (GRCm39)	missense	probably benign	0.00
R0347:Fam83f	UTSW	15	80,556,458 (GRCm39)	missense	probably damaging	1.00
R0976:Fam83f	UTSW	15	80,576,285 (GRCm39)	missense	probably damaging	1.00
R1725:Fam83f	UTSW	15	80,576,468 (GRCm39)	missense	possibly damaging	0.65
R1741:Fam83f	UTSW	15	80,576,468 (GRCm39)	missense	possibly damaging	0.65
R1796:Fam83f	UTSW	15	80,574,283 (GRCm39)	missense	possibly damaging	0.80
R1870:Fam83f	UTSW	15	80,574,113 (GRCm39)	splice site	probably benign
R1899:Fam83f	UTSW	15	80,576,281 (GRCm39)	missense	probably damaging	1.00
R2022:Fam83f	UTSW	15	80,576,468 (GRCm39)	missense	possibly damaging	0.65
R2114:Fam83f	UTSW	15	80,576,468 (GRCm39)	missense	possibly damaging	0.65
R2115:Fam83f	UTSW	15	80,576,468 (GRCm39)	missense	possibly damaging	0.65
R4090:Fam83f	UTSW	15	80,576,393 (GRCm39)	missense	possibly damaging	0.85
R4865:Fam83f	UTSW	15	80,576,650 (GRCm39)	missense	probably damaging	1.00
R4893:Fam83f	UTSW	15	80,576,156 (GRCm39)	missense	probably damaging	1.00
R5206:Fam83f	UTSW	15	80,576,255 (GRCm39)	missense	possibly damaging	0.86
R5739:Fam83f	UTSW	15	80,576,206 (GRCm39)	missense	probably damaging	1.00
R6468:Fam83f	UTSW	15	80,576,312 (GRCm39)	missense	possibly damaging	0.77
R7838:Fam83f	UTSW	15	80,576,704 (GRCm39)	missense	possibly damaging	0.94
R8070:Fam83f	UTSW	15	80,556,281 (GRCm39)	missense	probably damaging	1.00
R8082:Fam83f	UTSW	15	80,574,119 (GRCm39)	missense	probably damaging	0.98
R9071:Fam83f	UTSW	15	80,576,206 (GRCm39)	missense	probably damaging	1.00
R9711:Fam83f	UTSW	15	80,574,819 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGAATCTCCTCTTGCTCCTGAC -3'
(R):5'- CTCTTTCCCAGAGGAAACTCCAC -3'

Sequencing Primer
(F):5'- GACAGGACAGAACATGGAGC -3'
(R):5'- CACATCGGCAAACGTCTCAG -3'

Posted On

2014-05-14