Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02567:Fam189a1'

298872

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fam189a1

Ensembl Gene

ENSMUSG00000030518

Gene Name

family with sequence similarity 189, member A1

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

IGL02567

Quality Score

Status

Chromosome

Chromosomal Location

64756091-65156570 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 64786731 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 101 (M101L)

Ref Sequence

ENSEMBL: ENSMUSP00000115095 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000119118] [ENSMUST00000148459] [ENSMUST00000149851]

AlphaFold

Q6A044

Predicted Effect

possibly damaging
Transcript: ENSMUST00000119118
AA Change: M197L

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000113680
Gene: ENSMUSG00000030518
AA Change: M197L

Domain	Start	End	E-Value	Type
Pfam:CD20	34	199	4.9e-33	PFAM
low complexity region	243	259	N/A	INTRINSIC
low complexity region	356	374	N/A	INTRINSIC
low complexity region	378	392	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000148459
AA Change: M160L

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000116119
Gene: ENSMUSG00000030518
AA Change: M160L

Domain	Start	End	E-Value	Type
Pfam:CD20	34	162	1.8e-15	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000149851
AA Change: M101L

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000115095
Gene: ENSMUSG00000030518
AA Change: M101L

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
low complexity region	147	163	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aff4	C	A	11: 53,372,751	S199R	possibly damaging	Het
Ano1	A	G	7: 144,611,625	L621P	probably damaging	Het
Calcr	C	T	6: 3,691,564	V404M	probably damaging	Het
Carmil3	A	G	14: 55,498,882	S635G	possibly damaging	Het
Ccl12	C	A	11: 82,102,621	S28R	possibly damaging	Het
Cdc45	C	T	16: 18,798,729	M200I	probably benign	Het
Cdhr3	T	C	12: 33,038,901	N761D	probably benign	Het
Col14a1	T	C	15: 55,344,961		probably null	Het
Col28a1	T	C	6: 8,014,819	K862R	possibly damaging	Het
Cyp2c66	C	T	19: 39,186,640		probably benign	Het
D5Ertd615e	T	C	5: 45,163,416		noncoding transcript	Het
Deup1	T	C	9: 15,575,283	E367G	probably damaging	Het
Dpp8	T	G	9: 65,078,776	Y849*	probably null	Het
Efhc1	T	A	1: 20,972,964	V369E	probably damaging	Het
Epg5	A	G	18: 78,033,073	Y2562C	probably damaging	Het
Fbln5	A	G	12: 101,761,800		probably null	Het
Frem1	A	T	4: 83,000,055	M551K	probably damaging	Het
Gba2	T	C	4: 43,567,281	S889G	probably benign	Het
Golph3	C	T	15: 12,349,421	R176*	probably null	Het
Got2	A	T	8: 95,872,201	F191Y	probably benign	Het
Gtf2ird2	G	T	5: 134,213,048		probably benign	Het
Hist4h4	G	A	6: 136,804,274	R36W	probably damaging	Het
Hivep3	A	G	4: 120,133,956	T2218A	probably damaging	Het
Htr1f	C	T	16: 64,926,248	G227D	probably benign	Het
Ifi202b	C	T	1: 173,963,804	S436N	possibly damaging	Het
Nf1	T	A	11: 79,547,143	V2109D	probably damaging	Het
Opa1	C	A	16: 29,588,286	D29E	probably benign	Het
Papln	C	T	12: 83,778,837	P631S	probably benign	Het
Pde4c	T	A	8: 70,747,921	M352K	probably benign	Het
Pigu	T	C	2: 155,331,192	T129A	possibly damaging	Het
Pla2g4c	T	A	7: 13,346,040	H424Q	probably damaging	Het
Ptpn13	T	G	5: 103,562,291	L1564R	probably damaging	Het
Rbm5	T	C	9: 107,744,274	D642G	probably damaging	Het
Rnf111	T	C	9: 70,459,005	T384A	probably damaging	Het
Scn11a	T	C	9: 119,804,489	T393A	probably damaging	Het
Sned1	A	T	1: 93,274,347	K619M	probably damaging	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Syt9	A	G	7: 107,436,661	Y295C	probably damaging	Het
Taar7f	T	A	10: 24,050,425	Y306N	probably damaging	Het
Tmem107	T	G	11: 69,071,019	L25V	possibly damaging	Het
Wdr24	T	G	17: 25,824,348	I48S	probably damaging	Het
Zc3hc1	T	C	6: 30,374,849	D231G	probably benign	Het
Zfp142	T	A	1: 74,578,147	S342C	possibly damaging	Het
Zfp142	T	G	1: 74,578,149	K341T	possibly damaging	Het
Zfp142	T	C	1: 74,578,150	K341E	possibly damaging	Het
Zfp804b	T	A	5: 6,769,989	I989L	probably benign	Het
Zfyve9	A	C	4: 108,674,523	V1095G	probably damaging	Het

Other mutations in Fam189a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02053:Fam189a1	APN	7	64819842	missense	probably damaging	1.00
thick	UTSW	7	64759368	nonsense	probably null
R0612:Fam189a1	UTSW	7	64761801	missense	probably benign	0.17
R0720:Fam189a1	UTSW	7	64819910	splice site	probably benign
R1368:Fam189a1	UTSW	7	64819877	missense	probably damaging	1.00
R1716:Fam189a1	UTSW	7	64776885	splice site	probably null
R1840:Fam189a1	UTSW	7	64759195	missense	probably benign	0.37
R1972:Fam189a1	UTSW	7	64775768	missense	possibly damaging	0.91
R1973:Fam189a1	UTSW	7	64775768	missense	possibly damaging	0.91
R2201:Fam189a1	UTSW	7	64759393	missense	probably benign	0.01
R2230:Fam189a1	UTSW	7	64759222	missense	probably damaging	0.97
R2232:Fam189a1	UTSW	7	64759222	missense	probably damaging	0.97
R2340:Fam189a1	UTSW	7	64775817	missense	probably benign	0.00
R4809:Fam189a1	UTSW	7	64776740	missense	probably damaging	1.00
R4923:Fam189a1	UTSW	7	64767691	missense	probably benign	0.00
R4928:Fam189a1	UTSW	7	64759368	nonsense	probably null
R5556:Fam189a1	UTSW	7	64856209	missense	probably damaging	1.00
R5852:Fam189a1	UTSW	7	64775831	missense	probably damaging	1.00
R6169:Fam189a1	UTSW	7	64759399	missense	probably benign	0.00
R7029:Fam189a1	UTSW	7	64759327	missense	probably benign	0.00
R7455:Fam189a1	UTSW	7	64759413	missense	probably benign	0.00
R7512:Fam189a1	UTSW	7	65156170	missense	probably benign	0.23
R7896:Fam189a1	UTSW	7	64776809	missense	probably damaging	1.00
R8166:Fam189a1	UTSW	7	64759405	missense	probably benign	0.01

Posted On

2015-04-16