Mutagenetix > Incidental Mutation

Incidental Mutation 'R3731:Fam228a'

271000

Institutional Source

Beutler Lab

Gene Symbol

Fam228a

Ensembl Gene

ENSMUSG00000079177

Gene Name

family with sequence similarity 228, member A

Synonyms

4930417G10Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R3731 (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 4768671 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 203 (E203G)

Ref Sequence

ENSEMBL: ENSMUSP00000152184 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062580] [ENSMUST00000111154] [ENSMUST00000220311] [ENSMUST00000220978] [ENSMUST00000222363]

AlphaFold

Q8CDW1

Predicted Effect

probably benign
Transcript: ENSMUST00000062580

SMART Domains

Protein: ENSMUSP00000052758
Gene: ENSMUSG00000020640

Domain	Start	End	E-Value	Type
EH	15	109	8.44e-41	SMART
EFh	58	86	7.18e-3	SMART
low complexity region	156	169	N/A	INTRINSIC
low complexity region	215	231	N/A	INTRINSIC
EH	238	333	4.06e-43	SMART
EFh	282	310	6.16e-2	SMART
coiled coil region	366	462	N/A	INTRINSIC
coiled coil region	516	556	N/A	INTRINSIC
coiled coil region	580	715	N/A	INTRINSIC
SH3	721	778	2.65e-21	SMART
low complexity region	791	811	N/A	INTRINSIC
SH3	855	909	8.83e-18	SMART
SH3	945	999	9.1e-20	SMART
SH3	1017	1077	1.55e-13	SMART
SH3	1091	1146	7.22e-23	SMART
RhoGEF	1174	1355	1.93e-56	SMART
PH	1396	1507	1.16e-9	SMART
C2	1531	1628	3.96e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000111154
AA Change: E216G

PolyPhen 2 Score 0.234 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218084

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218211

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219832

Predicted Effect

probably benign
Transcript: ENSMUST00000220311

Predicted Effect

probably benign
Transcript: ENSMUST00000220978
AA Change: E203G

PolyPhen 2 Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

probably benign
Transcript: ENSMUST00000222363
AA Change: E216G

PolyPhen 2 Score 0.234 (Sensitivity: 0.91; Specificity: 0.88)

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630010A05Rik	T	A	16: 14,427,485 (GRCm39)		probably null	Het
Abcc5	A	T	16: 20,217,684 (GRCm39)	Y5*	probably null	Het
Acbd6	T	A	1: 155,434,471 (GRCm39)	S30T	probably benign	Het
Adar	T	C	3: 89,653,962 (GRCm39)	I325T	probably damaging	Het
Akap13	T	C	7: 75,261,125 (GRCm39)	S92P	probably benign	Het
Atp1a4	A	T	1: 172,061,528 (GRCm39)	V771E	probably damaging	Het
Cfh	A	G	1: 140,047,708 (GRCm39)	S492P	possibly damaging	Het
Crlf1	A	G	8: 70,952,092 (GRCm39)	T95A	probably benign	Het
Dennd2d	T	G	3: 106,407,271 (GRCm39)	F441V	probably damaging	Het
Dhx33	T	C	11: 70,879,978 (GRCm39)	D344G	probably benign	Het
Disp3	A	G	4: 148,337,284 (GRCm39)	S844P	probably benign	Het
Dock2	T	C	11: 34,599,722 (GRCm39)	K286E	probably damaging	Het
Fbxo38	GTGCTGCTGCTGCTGCTGCTGC	GTGCTGCTGCTGCTGCTGC	18: 62,648,399 (GRCm39)		probably benign	Het
Frmpd4	G	A	X: 166,269,803 (GRCm39)	T493M	probably damaging	Het
Galnt13	A	G	2: 54,823,519 (GRCm39)	N365S	possibly damaging	Het
Hrob	A	G	11: 102,148,732 (GRCm39)	E381G	possibly damaging	Het
Ighv1-19	C	A	12: 114,672,497 (GRCm39)	C40F	probably damaging	Het
Ints4	A	G	7: 97,155,308 (GRCm39)	Q320R	probably benign	Het
Kctd5	T	C	17: 24,278,212 (GRCm39)	D146G	probably benign	Het
Loxl3	T	C	6: 83,027,652 (GRCm39)		probably null	Het
Lrp2	G	A	2: 69,294,923 (GRCm39)	P3465L	probably damaging	Het
Lrp2	A	T	2: 69,365,251 (GRCm39)		probably null	Het
Manba	G	A	3: 135,260,611 (GRCm39)	V599I	probably benign	Het
Mbd6	A	G	10: 127,121,637 (GRCm39)		probably benign	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Nepn	A	T	10: 52,280,110 (GRCm39)	N401Y	probably damaging	Het
Nol10	A	T	12: 17,474,674 (GRCm39)	K622I	probably benign	Het
Npas3	T	C	12: 53,401,175 (GRCm39)	I40T	probably benign	Het
Or1e29	T	C	11: 73,667,565 (GRCm39)	E196G	probably benign	Het
Or1j19	A	T	2: 36,676,578 (GRCm39)	I14F	possibly damaging	Het
Or2d4	T	A	7: 106,543,684 (GRCm39)	N175Y	probably damaging	Het
Or4n4b	T	A	14: 50,535,962 (GRCm39)	D268V	probably damaging	Het
Or5p73	T	C	7: 108,064,633 (GRCm39)	I34T	possibly damaging	Het
Or8g33	T	A	9: 39,338,365 (GRCm39)	M1L	probably benign	Het
Phtf1	A	G	3: 103,893,095 (GRCm39)	M120V	probably benign	Het
Plxna2	A	G	1: 194,471,193 (GRCm39)	Y988C	probably benign	Het
Rgs12	G	A	5: 35,189,595 (GRCm39)	E658K	probably damaging	Het
Ripor3	C	G	2: 167,834,739 (GRCm39)	E251Q	probably damaging	Het
Sec24b	T	C	3: 129,827,482 (GRCm39)	K203R	possibly damaging	Het
Serpina1d	T	A	12: 103,734,164 (GRCm39)	N47Y	possibly damaging	Het
Setx	GTGGCT	GT	2: 29,044,073 (GRCm39)	1814	probably null	Het
Sirpb1c	T	C	3: 15,887,287 (GRCm39)	K184R	probably damaging	Het
Slc16a10	G	C	10: 39,932,620 (GRCm39)	H314D	possibly damaging	Het
Upp2	T	C	2: 58,645,379 (GRCm39)	S41P	probably benign	Het
Vmn1r10	A	G	6: 57,090,719 (GRCm39)	T104A	probably damaging	Het
Wdhd1	A	C	14: 47,485,349 (GRCm39)	S838R	possibly damaging	Het
Zer1	A	G	2: 30,000,923 (GRCm39)	V166A	probably benign	Het
Zfp217	T	C	2: 169,956,308 (GRCm39)	N897D	probably benign	Het
Zfp960	T	A	17: 17,308,633 (GRCm39)	L449H	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
R3921:Fam228a	UTSW	12	4,781,506 (GRCm39)	missense	probably benign	0.02
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'- CCACATAGGCTGCGTTTCTG -3'
(R):5'- TTAGCAGAGCAGATGGCCAG -3'

Sequencing Primer
(F):5'- TCAGAGAGAGGATCTGAGCTCCC -3'
(R):5'- AGGCACCAGCGATGTCTAG -3'

Posted On

2015-03-18