Mutagenetix > Incidental Mutation

Incidental Mutation 'R2411:Fam204a'

250016

Institutional Source

Beutler Lab

Gene Symbol

Fam204a

Ensembl Gene

ENSMUSG00000057858

Gene Name

family with sequence similarity 204, member A

Synonyms

D19Ertd737e, 2610015K05Rik, 2310065H12Rik

MMRRC Submission

040376-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.487) question?

Stock #

R2411 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

60187018-60215133 bp(-) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

A to T at 60187870 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Arginine at position 237 (*237R)

Ref Sequence

ENSEMBL: ENSMUSP00000063913 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065286]

AlphaFold

Q8C6C7

Predicted Effect

probably null
Transcript: ENSMUST00000065286
AA Change: *237R

SMART Domains

Protein: ENSMUSP00000063913
Gene: ENSMUSG00000057858
AA Change: *237R

Domain	Start	End	E-Value	Type
low complexity region	12	22	N/A	INTRINSIC
low complexity region	58	67	N/A	INTRINSIC
low complexity region	99	117	N/A	INTRINSIC

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 93.9%

Validation Efficiency

98% (42/43)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,684,980 (GRCm39)	C172*	probably null	Het
4933402D24Rik	A	G	1: 63,795,373 (GRCm39)		probably benign	Het
9030612E09Rik	G	T	10: 43,050,796 (GRCm39)	R30L	possibly damaging	Het
Aadacl2	A	G	3: 59,924,844 (GRCm39)	D137G	possibly damaging	Het
Acad11	T	G	9: 103,963,222 (GRCm39)		probably benign	Het
Acap1	A	T	11: 69,776,311 (GRCm39)	N229K	probably damaging	Het
Agbl1	A	G	7: 76,369,898 (GRCm39)	T666A	probably damaging	Het
Btbd16	T	C	7: 130,391,954 (GRCm39)	F160L	probably damaging	Het
Clock	A	C	5: 76,379,360 (GRCm39)	H525Q	probably benign	Het
Col6a1	G	T	10: 76,546,922 (GRCm39)	Q767K	unknown	Het
Creld1	A	G	6: 113,466,737 (GRCm39)	H240R	probably benign	Het
Dlg4	G	A	11: 69,932,755 (GRCm39)		probably null	Het
Filip1	T	A	9: 79,805,715 (GRCm39)	N13I	probably damaging	Het
Gm14295	G	T	2: 176,499,206 (GRCm39)	A19S	probably benign	Het
Hddc3	A	T	7: 79,993,341 (GRCm39)	Q56L	probably damaging	Het
Hes6	A	C	1: 91,340,986 (GRCm39)		probably null	Het
Hormad1	A	G	3: 95,487,326 (GRCm39)	D270G	probably benign	Het
Ifitm1	A	G	7: 140,549,711 (GRCm39)		probably null	Het
Igbp1b	A	C	6: 138,634,871 (GRCm39)	V191G	probably damaging	Het
Impg2	T	A	16: 56,072,517 (GRCm39)	N316K	probably damaging	Het
Kalrn	C	T	16: 33,810,180 (GRCm39)	D2525N	possibly damaging	Het
Lilra6	T	C	7: 3,914,453 (GRCm39)	Y566C	probably damaging	Het
Map4k4	A	G	1: 40,046,656 (GRCm39)	D775G	probably damaging	Het
Mtmr10	A	T	7: 63,947,245 (GRCm39)	K53N	probably damaging	Het
Mybpc2	G	A	7: 44,155,662 (GRCm39)	R864W	probably damaging	Het
Nckap1l	C	A	15: 103,391,995 (GRCm39)	P810Q	probably damaging	Het
Nsf	C	T	11: 103,821,578 (GRCm39)	E26K	possibly damaging	Het
Or14c44	T	C	7: 86,062,290 (GRCm39)	V281A	possibly damaging	Het
Or1ad1	A	G	11: 50,875,758 (GRCm39)	T77A	probably damaging	Het
Or4a27	C	T	2: 88,559,741 (GRCm39)	M67I	probably benign	Het
Ppp2r3c	T	C	12: 55,345,269 (GRCm39)	K73R	probably benign	Het
Ptpru	A	T	4: 131,498,780 (GRCm39)	F1311Y	probably damaging	Het
Ror2	G	A	13: 53,284,980 (GRCm39)	P144L	possibly damaging	Het
Setd2	A	G	9: 110,379,497 (GRCm39)	E1104G	possibly damaging	Het
St14	G	A	9: 31,019,530 (GRCm39)	T97I	probably benign	Het
Stag3	A	G	5: 138,281,290 (GRCm39)		probably benign	Het
Sytl3	T	C	17: 7,003,892 (GRCm39)	S326P	probably damaging	Het
Tor1b	G	T	2: 30,845,824 (GRCm39)	S167I	probably damaging	Het
Ttn	T	A	2: 76,568,359 (GRCm39)	E27511D	probably damaging	Het
Uso1	T	A	5: 92,306,258 (GRCm39)		probably benign	Het
Vmn1r10	G	T	6: 57,091,124 (GRCm39)	V239F	probably benign	Het
Vps35l	G	C	7: 118,391,818 (GRCm39)	A410P	probably damaging	Het
Zfp160	C	T	17: 21,246,007 (GRCm39)	R186C	possibly damaging	Het
Zfp869	A	G	8: 70,159,179 (GRCm39)	C465R	probably damaging	Het
Zfp957	T	C	14: 79,451,782 (GRCm39)	K6E	unknown	Het

Other mutations in Fam204a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0384:Fam204a	UTSW	19	60,209,728 (GRCm39)	start codon destroyed	probably null	1.00
R1872:Fam204a	UTSW	19	60,187,881 (GRCm39)	missense	possibly damaging	0.49
R5186:Fam204a	UTSW	19	60,188,421 (GRCm39)	missense	probably damaging	0.98
R5673:Fam204a	UTSW	19	60,188,415 (GRCm39)	missense	probably damaging	1.00
R5914:Fam204a	UTSW	19	60,209,525 (GRCm39)	nonsense	probably null
R6222:Fam204a	UTSW	19	60,188,400 (GRCm39)	critical splice donor site	probably null
R6618:Fam204a	UTSW	19	60,209,069 (GRCm39)	splice site	probably null
R9350:Fam204a	UTSW	19	60,209,685 (GRCm39)	missense	probably benign	0.02
R9527:Fam204a	UTSW	19	60,208,992 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- GGCTATGCTAGACCAAACAGATC -3'
(R):5'- TATGGAGACCTTGCCTCAGC -3'

Sequencing Primer
(F):5'- TATGCTAGACCAAACAGATCAAACAC -3'
(R):5'- AGACCTTGCCTCAGCCAGTG -3'

Posted On

2014-11-12