Mutagenetix > Incidental Mutation

Incidental Mutation 'R9134:Fam228a'

693857

Institutional Source

Beutler Lab

Gene Symbol

Fam228a

Ensembl Gene

ENSMUSG00000079177

Gene Name

family with sequence similarity 228, member A

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.049) question?

Stock #

R9134 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4713670-4738430 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4715686 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 255 (R255G)

Ref Sequence

ENSEMBL: ENSMUSP00000106784 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062580] [ENSMUST00000111154] [ENSMUST00000219007] [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: R255G

PolyPhen 2 Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000219007

Predicted Effect

probably benign
Transcript: ENSMUST00000220311

Predicted Effect

probably benign
Transcript: ENSMUST00000222363
AA Change: R255G

PolyPhen 2 Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

95% (54/57)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	T	C	15: 8,199,232	V929A	probably damaging	Het
Ap1m1	A	G	8: 72,240,069		probably benign	Het
Arhgdia	A	T	11: 120,579,566	I122N	probably damaging	Het
Atad2b	T	A	12: 5,010,351	H915Q	probably benign	Het
Atad5	G	A	11: 80,133,105	R1681K	probably benign	Het
Bpifb9b	T	C	2: 154,309,521	V54A	probably benign	Het
Cby3	A	C	11: 50,359,326	T25P	probably damaging	Het
Ccdc138	T	G	10: 58,538,280	L374R	probably damaging	Het
Cd84	T	A	1: 171,851,846	N30K	probably damaging	Het
Cdk20	T	A	13: 64,433,092		probably null	Het
Chd9	A	G	8: 90,933,126	H238R	unknown	Het
Csl	T	A	10: 99,758,375	H276L	probably damaging	Het
Dchs1	A	G	7: 105,755,703	L2544P	probably damaging	Het
Dnah17	T	C	11: 118,088,146	T1807A	probably damaging	Het
Dph7	C	T	2: 24,971,708	H378Y	probably benign	Het
Enkur	T	C	2: 21,180,968	I249V	probably benign	Het
Fam117a	C	A	11: 95,380,919	S439*	probably null	Het
Fam184a	T	G	10: 53,697,248	K345N	probably damaging	Het
Fpr-rs7	A	T	17: 20,114,063	M55K	probably damaging	Het
Frem2	A	G	3: 53,654,900	Y729H	probably damaging	Het
Gm15448	T	C	7: 3,822,183	S487G		Het
Herc2	A	G	7: 56,182,429	T2989A	probably damaging	Het
Hspb8	A	G	5: 116,409,488	L145P	probably damaging	Het
Iars	T	A	13: 49,701,847	V250E	probably benign	Het
Ide	G	T	19: 37,296,162		probably benign	Het
Ino80c	T	C	18: 24,121,708	S32G	probably benign	Het
Insr	G	A	8: 3,258,413	R208W	probably damaging	Het
Ints1	G	A	5: 139,757,596	R1674W	probably benign	Het
Itsn1	G	A	16: 91,869,626	V1153M	unknown	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,850,378		probably benign	Het
Lrrc41	C	A	4: 116,088,585	Q166K	possibly damaging	Het
Lrriq3	T	C	3: 155,114,546		probably null	Het
Mndal	T	C	1: 173,871,530	I190V	unknown	Het
Nisch	TCTGCTGC	TCTGCTGCTGC	14: 31,174,680		probably benign	Het
Nme4	G	T	17: 26,095,415	A13E	probably benign	Het
Olfr1468-ps1	G	T	19: 13,375,249	A96S	probably damaging	Het
Olfr292	C	A	7: 86,695,380	S308*	probably null	Het
Olfr410	A	G	11: 74,334,844	I129T	probably damaging	Het
Pcmt1	A	T	10: 7,644,443		probably benign	Het
Pde4c	G	T	8: 70,748,511	V493F	probably damaging	Het
Pde8a	C	T	7: 81,332,871	T746I	probably damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195		probably benign	Het
Prr23a1	T	C	9: 98,842,882	L99P		Het
Rex2	C	G	4: 147,058,186	T377S	probably benign	Het
Robo2	A	G	16: 73,906,850	F50L		Het
Srgap1	A	G	10: 122,047,222		probably benign	Het
Syt3	A	G	7: 44,393,367	N358D	possibly damaging	Het
Tfec	T	A	6: 16,835,327	T151S	probably damaging	Het
Tll1	A	T	8: 64,016,167	I974N	possibly damaging	Het
Tmc2	T	C	2: 130,232,401	V338A	probably benign	Het
Trappc6b	T	A	12: 59,050,374	D54V	probably damaging	Het
Trav6-2	T	A	14: 52,667,652	C43*	probably null	Het
Ubr4	T	A	4: 139,400,444		probably null	Het
Vmn1r2	T	A	4: 3,172,884	W268R	probably damaging	Het
Vmn2r120	A	G	17: 57,525,093	L232S	probably damaging	Het
Vps26b	T	C	9: 27,009,929	T325A	probably benign	Het
Vwa3a	T	C	7: 120,778,436	V438A	probably damaging	Het
Wdcp	C	A	12: 4,851,533	S463*	probably null	Het
Xkr4	C	T	1: 3,670,637	G238S	probably benign	Het
Zranb1	A	G	7: 132,950,157	N179S	probably benign	Het

Other mutations in Fam228a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00906:Fam228a	APN	12	4732773	missense	possibly damaging	0.94
IGL01472:Fam228a	APN	12	4715610	missense	possibly damaging	0.64
IGL02602:Fam228a	APN	12	4732808	missense	probably benign	0.00
IGL02797:Fam228a	APN	12	4731484	missense	probably damaging	1.00
IGL03247:Fam228a	APN	12	4737734	missense	probably damaging	1.00
R0332:Fam228a	UTSW	12	4735018	missense	probably damaging	1.00
R0437:Fam228a	UTSW	12	4732759	missense	probably damaging	1.00
R0454:Fam228a	UTSW	12	4731457	missense	probably damaging	1.00
R0838:Fam228a	UTSW	12	4735002	missense	possibly damaging	0.92
R1791:Fam228a	UTSW	12	4732748	missense	probably damaging	1.00
R1836:Fam228a	UTSW	12	4715620	missense	probably damaging	1.00
R2256:Fam228a	UTSW	12	4737775	start gained	probably benign
R2257:Fam228a	UTSW	12	4737775	start gained	probably benign
R2397:Fam228a	UTSW	12	4718718	missense	probably benign	0.22
R3731:Fam228a	UTSW	12	4718671	missense	probably benign	0.44
R3921:Fam228a	UTSW	12	4731506	missense	probably benign	0.02
R5937:Fam228a	UTSW	12	4737725	missense	probably damaging	1.00
R7278:Fam228a	UTSW	12	4732790	missense	probably benign	0.01
R7610:Fam228a	UTSW	12	4731423	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- CACCGTCAGTATTTGCAGTTG -3'
(R):5'- GCCTCTGCCATACCAGAAAG -3'

Sequencing Primer
(F):5'- CAGTTGCATGCAAGAGGTG -3'
(R):5'- AAGGCTTATCTGTGAACTGCAG -3'

Posted On

2022-01-20