Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01472:Fam228a'

88313

Institutional Source

Australian Phenomics Network (link to record)

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: 0.073) question?

Stock #

IGL01472

Quality Score

Status

Chromosome

Chromosomal Location

4763670-4788430 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4765610 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 267 (I267T)

Ref Sequence

ENSEMBL: ENSMUSP00000152184 (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: I280T

PolyPhen 2 Score 0.374 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218084

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218211

Predicted Effect

probably benign
Transcript: ENSMUST00000219007

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219832

Predicted Effect

probably benign
Transcript: ENSMUST00000220311

Predicted Effect

possibly damaging
Transcript: ENSMUST00000220978
AA Change: I267T

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

probably benign
Transcript: ENSMUST00000222363
AA Change: I280T

PolyPhen 2 Score 0.374 (Sensitivity: 0.90; Specificity: 0.89)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm2	G	A	7: 119,153,759 (GRCm39)		probably null	Het
Adamts4	T	C	1: 171,080,419 (GRCm39)	F324S	probably damaging	Het
Alg10b	T	A	15: 90,111,900 (GRCm39)	L248Q	possibly damaging	Het
Antxr2	T	A	5: 98,175,358 (GRCm39)	T90S	probably benign	Het
Arhgap21	C	T	2: 20,854,392 (GRCm39)	E1657K	probably damaging	Het
Atp13a5	T	G	16: 29,094,175 (GRCm39)	D803A	probably damaging	Het
Bzw2	T	C	12: 36,159,795 (GRCm39)	D185G	probably damaging	Het
Camta2	A	G	11: 70,574,950 (GRCm39)	S62P	probably damaging	Het
Cep85	T	C	4: 133,861,477 (GRCm39)	Q599R	possibly damaging	Het
Chsy3	G	A	18: 59,309,439 (GRCm39)	V231I	probably damaging	Het
Cnbd2	C	T	2: 156,217,268 (GRCm39)	R457W	probably damaging	Het
Col20a1	A	G	2: 180,649,625 (GRCm39)	T1036A	probably benign	Het
Colgalt2	T	C	1: 152,382,629 (GRCm39)	Y494H	probably damaging	Het
Cox15	G	T	19: 43,732,104 (GRCm39)	Y237*	probably null	Het
Cpne9	C	A	6: 113,269,983 (GRCm39)	S281Y	possibly damaging	Het
D830013O20Rik	G	A	12: 73,411,090 (GRCm39)		noncoding transcript	Het
Dnah5	C	T	15: 28,331,872 (GRCm39)	R2153C	probably damaging	Het
Fat4	G	A	3: 38,942,219 (GRCm39)	A371T	probably damaging	Het
Gm1818	T	C	12: 48,603,072 (GRCm39)		noncoding transcript	Het
Gm5592	T	C	7: 40,935,498 (GRCm39)		probably benign	Het
Golga4	C	A	9: 118,361,642 (GRCm39)	L207I	probably damaging	Het
Gtf3c1	A	G	7: 125,250,226 (GRCm39)		probably benign	Het
Hao1	C	T	2: 134,396,150 (GRCm39)	E35K	probably benign	Het
Iqch	T	C	9: 63,455,216 (GRCm39)	I194V	probably benign	Het
Ism1	A	T	2: 139,599,223 (GRCm39)	T392S	probably damaging	Het
Lcmt1	A	G	7: 123,027,376 (GRCm39)	Y313C	probably damaging	Het
Loxl4	A	G	19: 42,585,988 (GRCm39)	C718R	probably damaging	Het
Lyar	T	G	5: 38,382,066 (GRCm39)	I16R	possibly damaging	Het
Map3k20	T	C	2: 72,185,897 (GRCm39)		probably benign	Het
Mtus1	T	C	8: 41,455,449 (GRCm39)	T941A	probably benign	Het
Myh8	A	G	11: 67,179,205 (GRCm39)		probably benign	Het
Myof	T	C	19: 37,911,524 (GRCm39)	D1482G	probably benign	Het
Nr4a3	C	A	4: 48,071,133 (GRCm39)	A534D	probably damaging	Het
Oas1c	A	G	5: 120,940,986 (GRCm39)	V269A	probably damaging	Het
Odf2	T	A	2: 29,783,071 (GRCm39)	S5T	probably damaging	Het
Or5d36	T	A	2: 87,901,322 (GRCm39)	T135S	possibly damaging	Het
Or5p4	T	C	7: 107,680,411 (GRCm39)	S137P	probably benign	Het
Or9s27	T	A	1: 92,516,694 (GRCm39)	M214K	possibly damaging	Het
Pbk	A	G	14: 66,054,159 (GRCm39)	T235A	probably benign	Het
Phrf1	T	C	7: 140,836,403 (GRCm39)		probably benign	Het
Prkci	A	G	3: 31,104,341 (GRCm39)	D568G	probably damaging	Het
Prom2	T	A	2: 127,374,802 (GRCm39)	Y578F	probably benign	Het
Prph	T	C	15: 98,956,474 (GRCm39)		probably benign	Het
Ryr3	A	G	2: 112,502,593 (GRCm39)	V3527A	probably benign	Het
Scn10a	C	T	9: 119,446,829 (GRCm39)	V1400I	probably damaging	Het
Slc10a2	A	G	8: 5,141,652 (GRCm39)	L244P	probably damaging	Het
Tardbp	A	G	4: 148,706,521 (GRCm39)	V96A	probably benign	Het
Tbc1d4	C	A	14: 101,727,300 (GRCm39)	E504*	probably null	Het
Tmed3	T	C	9: 89,584,928 (GRCm39)	E109G	probably benign	Het
Tnc	C	T	4: 63,924,656 (GRCm39)	R1014H	probably benign	Het
Tpcn2	C	T	7: 144,821,115 (GRCm39)	R313Q	probably damaging	Het
Trim45	A	G	3: 100,835,381 (GRCm39)	T455A	probably benign	Het
Txlna	A	G	4: 129,525,908 (GRCm39)	I313T	probably damaging	Het
Vmn1r202	A	T	13: 22,686,159 (GRCm39)	I86K	possibly damaging	Het
Vmn2r14	C	A	5: 109,364,180 (GRCm39)	E579*	probably null	Het
Wrn	T	A	8: 33,819,200 (GRCm39)	I8F	possibly damaging	Het
Zc3h18	A	G	8: 123,143,396 (GRCm39)		probably benign	Het
Zfyve26	A	T	12: 79,323,117 (GRCm39)	H876Q	probably benign	Het
Znrf2	C	T	6: 54,840,957 (GRCm39)	T177I	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
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
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

Posted On

2013-11-18