Mutagenetix > Incidental Mutation

Incidental Mutation 'R0548:Fam72a'

44943

Institutional Source

Beutler Lab

Gene Symbol

Fam72a

Ensembl Gene

ENSMUSG00000055184

Gene Name

family with sequence similarity 72, member A

Synonyms

2700049P18Rik, P17

MMRRC Submission

038740-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0548 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

131455641-131467610 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 131461599 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 95 (S95T)

Ref Sequence

ENSEMBL: ENSMUSP00000068111 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068613]

AlphaFold

Q8BFZ8

Predicted Effect

probably damaging
Transcript: ENSMUST00000068613
AA Change: S95T

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

SMART Domains

Protein: ENSMUSP00000068111
Gene: ENSMUSG00000055184
AA Change: S95T

Domain	Start	End	E-Value	Type
Pfam:FAM72	5	149	3.9e-84	PFAM

Meta Mutation Damage Score

0.1990

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.3%

Validation Efficiency

97% (62/64)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam39	T	G	8: 41,279,504 (GRCm39)	C632G	probably damaging	Het
Adamtsl3	T	C	7: 82,178,191 (GRCm39)		probably null	Het
Agfg1	A	G	1: 82,864,152 (GRCm39)	T447A	probably damaging	Het
Ankrd37	C	T	8: 46,451,433 (GRCm39)		probably null	Het
Apob	A	T	12: 8,056,282 (GRCm39)	D1555V	probably damaging	Het
Asxl3	T	A	18: 22,654,849 (GRCm39)		probably benign	Het
Brca2	C	A	5: 150,468,400 (GRCm39)	D2242E	probably damaging	Het
Car5b	G	A	X: 162,762,297 (GRCm39)	R282C	probably damaging	Het
Cdk5rap2	A	T	4: 70,267,379 (GRCm39)		probably null	Het
Cox10	A	T	11: 63,867,178 (GRCm39)	Y273N	probably damaging	Het
Dcbld2	A	T	16: 58,275,508 (GRCm39)	D408V	probably damaging	Het
Enam	A	T	5: 88,650,964 (GRCm39)	E824D	probably damaging	Het
Epm2aip1	T	C	9: 111,102,409 (GRCm39)	Y461H	probably damaging	Het
Fiz1	A	T	7: 5,012,167 (GRCm39)	V117D	possibly damaging	Het
Gm10355	C	T	3: 101,214,376 (GRCm39)		noncoding transcript	Het
Gm11595	A	T	11: 99,662,967 (GRCm39)	C238S	unknown	Het
Gm7589	T	G	9: 59,053,439 (GRCm39)		noncoding transcript	Het
H6pd	A	T	4: 150,066,073 (GRCm39)	V771E	probably damaging	Het
Htt	T	C	5: 35,028,090 (GRCm39)	L1782P	probably damaging	Het
Il33	T	C	19: 29,932,047 (GRCm39)	S147P	probably benign	Het
Lct	T	C	1: 128,212,932 (GRCm39)	Y1907C	probably damaging	Het
Lrp2	G	A	2: 69,367,982 (GRCm39)		probably benign	Het
Maco1	T	C	4: 134,533,971 (GRCm39)	D550G	probably damaging	Het
Map1b	T	C	13: 99,568,191 (GRCm39)	K1510R	unknown	Het
Marco	T	C	1: 120,419,767 (GRCm39)	T187A	probably benign	Het
Mki67	A	T	7: 135,298,637 (GRCm39)	N2132K	possibly damaging	Het
Mki67	T	A	7: 135,296,985 (GRCm39)	K2683M	probably damaging	Het
Mmp15	T	C	8: 96,098,979 (GRCm39)	V602A	probably damaging	Het
Mphosph10	T	A	7: 64,028,548 (GRCm39)	M536L	probably benign	Het
Mroh2a	C	A	1: 88,170,142 (GRCm39)	A685D	possibly damaging	Het
Mylk	G	C	16: 34,699,845 (GRCm39)	E403Q	possibly damaging	Het
N4bp2	G	T	5: 65,965,496 (GRCm39)	V1182L	probably benign	Het
Nlrc5	C	A	8: 95,248,411 (GRCm39)	F1715L	probably null	Het
Nsd2	T	A	5: 34,050,882 (GRCm39)	V1253E	probably damaging	Het
Numa1	T	C	7: 101,644,731 (GRCm39)	S236P	possibly damaging	Het
Or2a52	T	A	6: 43,144,121 (GRCm39)	I43K	probably benign	Het
Or4c120	C	A	2: 89,000,992 (GRCm39)	C188F	probably damaging	Het
Or8g18	A	T	9: 39,149,667 (GRCm39)	S18T	probably benign	Het
Padi4	GCTGCGTACCTCCAC	GC	4: 140,475,760 (GRCm39)		probably benign	Het
Pi4ka	A	T	16: 17,125,582 (GRCm39)	N4K	possibly damaging	Het
Plxna4	A	T	6: 32,134,950 (GRCm39)	I1751N	probably damaging	Het
Postn	C	A	3: 54,274,997 (GRCm39)	S122*	probably null	Het
Ppp4r4	A	T	12: 103,579,074 (GRCm39)	R762*	probably null	Het
Rrm1	G	T	7: 102,116,274 (GRCm39)		probably null	Het
Rrp15	A	G	1: 186,468,431 (GRCm39)	V195A	probably benign	Het
Rtl1	T	A	12: 109,558,089 (GRCm39)	D1250V	probably damaging	Het
Rxrg	T	C	1: 167,458,788 (GRCm39)		probably benign	Het
Scn10a	T	C	9: 119,494,994 (GRCm39)	K416E	probably benign	Het
Serping1	T	C	2: 84,600,425 (GRCm39)		probably benign	Het
Slc12a6	T	C	2: 112,166,269 (GRCm39)		probably null	Het
Smo	A	T	6: 29,759,585 (GRCm39)	Q639L	possibly damaging	Het
Synrg	T	C	11: 83,873,014 (GRCm39)		probably benign	Het
Tars2	T	C	3: 95,649,971 (GRCm39)	D470G	probably damaging	Het
Tln1	T	C	4: 43,542,709 (GRCm39)	N1399S	possibly damaging	Het
Tmem131	A	G	1: 36,877,119 (GRCm39)	V240A	probably damaging	Het
Tmem232	G	A	17: 65,689,615 (GRCm39)	T500I	probably benign	Het
Toporsl	G	A	4: 52,612,140 (GRCm39)	V678M	possibly damaging	Het
Vmn1r7	A	T	6: 57,002,066 (GRCm39)	F65I	probably damaging	Het
Wdfy4	C	T	14: 32,764,578 (GRCm39)	M2257I	probably benign	Het
Wdr20rt	T	A	12: 65,274,089 (GRCm39)	D344E	probably benign	Het
Xirp2	C	T	2: 67,344,758 (GRCm39)	A2333V	probably benign	Het
Zfyve16	T	C	13: 92,631,452 (GRCm39)	K1381R	probably benign	Het
Zscan18	G	T	7: 12,508,103 (GRCm39)	P466T	probably damaging	Het

Other mutations in Fam72a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01619:Fam72a	APN	1	131,461,650 (GRCm39)	missense	probably benign	0.01
R0943:Fam72a	UTSW	1	131,456,517 (GRCm39)	missense	possibly damaging	0.82
R1037:Fam72a	UTSW	1	131,461,557 (GRCm39)	missense	probably damaging	1.00
R1728:Fam72a	UTSW	1	131,466,633 (GRCm39)	missense	probably benign	0.00
R1728:Fam72a	UTSW	1	131,458,406 (GRCm39)	missense	probably benign	0.00
R1729:Fam72a	UTSW	1	131,466,633 (GRCm39)	missense	probably benign	0.00
R1729:Fam72a	UTSW	1	131,458,406 (GRCm39)	missense	probably benign	0.00
R1730:Fam72a	UTSW	1	131,466,633 (GRCm39)	missense	probably benign	0.00
R1730:Fam72a	UTSW	1	131,458,406 (GRCm39)	missense	probably benign	0.00
R1739:Fam72a	UTSW	1	131,466,633 (GRCm39)	missense	probably benign	0.00
R1739:Fam72a	UTSW	1	131,458,406 (GRCm39)	missense	probably benign	0.00
R1762:Fam72a	UTSW	1	131,466,633 (GRCm39)	missense	probably benign	0.00
R1762:Fam72a	UTSW	1	131,458,406 (GRCm39)	missense	probably benign	0.00
R1783:Fam72a	UTSW	1	131,466,633 (GRCm39)	missense	probably benign	0.00
R1783:Fam72a	UTSW	1	131,458,406 (GRCm39)	missense	probably benign	0.00
R1784:Fam72a	UTSW	1	131,466,633 (GRCm39)	missense	probably benign	0.00
R1784:Fam72a	UTSW	1	131,458,406 (GRCm39)	missense	probably benign	0.00
R1785:Fam72a	UTSW	1	131,466,633 (GRCm39)	missense	probably benign	0.00
R1785:Fam72a	UTSW	1	131,458,406 (GRCm39)	missense	probably benign	0.00
R2508:Fam72a	UTSW	1	131,456,592 (GRCm39)	critical splice donor site	probably null
R6589:Fam72a	UTSW	1	131,461,554 (GRCm39)	missense	probably damaging	1.00
R7402:Fam72a	UTSW	1	131,466,614 (GRCm39)	nonsense	probably null
R7402:Fam72a	UTSW	1	131,466,613 (GRCm39)	missense	probably damaging	1.00
R7888:Fam72a	UTSW	1	131,456,578 (GRCm39)	missense	probably damaging	1.00
R8350:Fam72a	UTSW	1	131,461,663 (GRCm39)	missense	probably damaging	1.00
R8450:Fam72a	UTSW	1	131,461,663 (GRCm39)	missense	probably damaging	1.00
R8828:Fam72a	UTSW	1	131,458,461 (GRCm39)	nonsense	probably null
R8861:Fam72a	UTSW	1	131,466,656 (GRCm39)	missense	possibly damaging	0.89
R8932:Fam72a	UTSW	1	131,456,502 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- ACCATGTTCAATTTTCTCCAGGGGC -3'
(R):5'- CAGTCTAGCTGTGAATGTTGCAGGG -3'

Sequencing Primer
(F):5'- AACTAGCCTTCGATGAGAGC -3'
(R):5'- GGTTCCCCTCAGGTACTGAC -3'

Posted On

2013-06-11