Mutagenetix > Incidental Mutation

Incidental Mutation 'R3921:Fam228a'

500472

Institutional Source

Beutler Lab

Gene Symbol

Fam228a

Ensembl Gene

ENSMUSG00000079177

Gene Name

family with sequence similarity 228, member A

Synonyms

4930417G10Rik

MMRRC Submission

040818-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R3921 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4763670-4788430 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4781506 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 118 (T118A)

Ref Sequence

ENSEMBL: ENSMUSP00000152506 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000111154] [ENSMUST00000220978] [ENSMUST00000222363]

AlphaFold

Q8CDW1

Predicted Effect

probably benign
Transcript: ENSMUST00000111154
AA Change: T118A

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220075

Predicted Effect

probably benign
Transcript: ENSMUST00000220978
AA Change: T105A

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

Predicted Effect

probably benign
Transcript: ENSMUST00000222363
AA Change: T118A

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm2	T	A	3: 59,659,498 (GRCm39)	L317Q	probably damaging	Het
Aebp2	C	T	6: 140,579,461 (GRCm39)	R11C	probably damaging	Het
Anxa8	T	C	14: 33,816,403 (GRCm39)	F201L	probably damaging	Het
Armh4	A	G	14: 50,011,659 (GRCm39)	F16S	probably benign	Het
Bcl7a	A	G	5: 123,509,136 (GRCm39)	N206S	probably benign	Het
Birc6	A	G	17: 74,934,014 (GRCm39)	N2542D	probably damaging	Het
Cubn	A	G	2: 13,331,488 (GRCm39)	Y2562H	probably damaging	Het
Dnah12	C	G	14: 26,493,008 (GRCm39)	D1256E	probably damaging	Het
Dnajb14	A	T	3: 137,610,613 (GRCm39)	R280S	probably damaging	Het
Dop1a	A	T	9: 86,402,324 (GRCm39)	I1173F	probably benign	Het
Gata2	TGCCATGGGCTAGGCAAGCC	TGCC	6: 88,182,464 (GRCm39)		probably null	Het
Hif3a	T	C	7: 16,771,097 (GRCm39)	D618G	possibly damaging	Het
Ighv1-43	C	A	12: 114,909,772 (GRCm39)	G50V	probably benign	Het
Lrrc37a	G	T	11: 103,392,296 (GRCm39)	T1043N	probably benign	Het
Masp2	T	A	4: 148,690,188 (GRCm39)	D232E	possibly damaging	Het
Ms4a4a	A	C	19: 11,356,172 (GRCm39)	Q19P	probably benign	Het
Nckipsd	A	G	9: 108,691,275 (GRCm39)	E399G	possibly damaging	Het
Nnt	T	A	13: 119,503,030 (GRCm39)	T572S	probably damaging	Het
Olig3	A	G	10: 19,232,423 (GRCm39)	D16G	probably damaging	Het
Or4a74	C	T	2: 89,439,853 (GRCm39)	V198I	probably benign	Het
Or5p57	T	A	7: 107,665,108 (GRCm39)	D299V	possibly damaging	Het
Polr2b	T	C	5: 77,474,500 (GRCm39)	Y446H	probably damaging	Het
Prtg	T	C	9: 72,755,629 (GRCm39)	V277A	probably damaging	Het
Rnf31	T	C	14: 55,838,599 (GRCm39)	Y857H	probably damaging	Het
Serac1	T	C	17: 6,117,067 (GRCm39)	D163G	probably damaging	Het
Slc22a22	C	A	15: 57,119,940 (GRCm39)	V197F	probably benign	Het
Slc2a10	C	T	2: 165,357,521 (GRCm39)	P394S	probably benign	Het
Spg7	G	C	8: 123,814,112 (GRCm39)	R457P	probably damaging	Het
St7	A	G	6: 17,846,244 (GRCm39)	N120D	probably benign	Het
Sult2a6	C	T	7: 13,988,668 (GRCm39)	V31M	possibly damaging	Het
Taf3	T	C	2: 10,053,109 (GRCm39)	T35A	probably benign	Het
Tmem131l	A	G	3: 83,847,908 (GRCm39)	I319T	possibly damaging	Het
Ttc23l	G	A	15: 10,537,652 (GRCm39)	S206L	probably benign	Het
Ttc23l	T	TTGGATG	15: 10,537,649 (GRCm39)		probably benign	Het
Ttc23l	CT	CTTGGATT	15: 10,537,648 (GRCm39)		probably benign	Het
Vmn2r9	T	G	5: 108,996,921 (GRCm39)	Y116S	probably benign	Het
Vstm2l	A	G	2: 157,777,283 (GRCm39)	T54A	probably benign	Het
Xrn1	T	A	9: 95,851,337 (GRCm39)	M153K	probably benign	Het
Zfp106	G	A	2: 120,364,097 (GRCm39)	P770L	probably damaging	Het

Other mutations in Fam228a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00906:Fam228a	APN	12	4,782,773 (GRCm39)	missense	possibly damaging	0.94
IGL01472:Fam228a	APN	12	4,765,610 (GRCm39)	missense	possibly damaging	0.64
IGL02602:Fam228a	APN	12	4,782,808 (GRCm39)	missense	probably benign	0.00
IGL02797:Fam228a	APN	12	4,781,484 (GRCm39)	missense	probably damaging	1.00
IGL03247:Fam228a	APN	12	4,787,734 (GRCm39)	missense	probably damaging	1.00
R0332:Fam228a	UTSW	12	4,785,018 (GRCm39)	missense	probably damaging	1.00
R0437:Fam228a	UTSW	12	4,782,759 (GRCm39)	missense	probably damaging	1.00
R0454:Fam228a	UTSW	12	4,781,457 (GRCm39)	missense	probably damaging	1.00
R0838:Fam228a	UTSW	12	4,785,002 (GRCm39)	missense	possibly damaging	0.92
R1791:Fam228a	UTSW	12	4,782,748 (GRCm39)	missense	probably damaging	1.00
R1836:Fam228a	UTSW	12	4,765,620 (GRCm39)	missense	probably damaging	1.00
R2256:Fam228a	UTSW	12	4,787,775 (GRCm39)	start gained	probably benign
R2257:Fam228a	UTSW	12	4,787,775 (GRCm39)	start gained	probably benign
R2397:Fam228a	UTSW	12	4,768,718 (GRCm39)	missense	probably benign	0.22
R3731:Fam228a	UTSW	12	4,768,671 (GRCm39)	missense	probably benign	0.44
R5937:Fam228a	UTSW	12	4,787,725 (GRCm39)	missense	probably damaging	1.00
R7278:Fam228a	UTSW	12	4,782,790 (GRCm39)	missense	probably benign	0.01
R7610:Fam228a	UTSW	12	4,781,423 (GRCm39)	critical splice donor site	probably null
R9134:Fam228a	UTSW	12	4,765,686 (GRCm39)	missense	probably benign	0.27

Predicted Primers

PCR Primer
(F):5'- TCTCTGGGACTGGAGCAATG -3'
(R):5'- TCAATGAAGCATCCCCACTG -3'

Sequencing Primer
(F):5'- ACTGGAGCAATGGGGCCTG -3'
(R):5'- TGGAGACAGGCTCACCCATG -3'

Posted On

2017-12-01