Mutagenetix > Incidental Mutations

Incidental Mutation 'R5556:Fam189a1'

435390

Institutional Source

Beutler Lab

Gene Symbol

Fam189a1

Ensembl Gene

ENSMUSG00000030518

Gene Name

family with sequence similarity 189, member A1

Synonyms

MMRRC Submission

043113-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R5556 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

64756091-65156570 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 64856209 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 96 (F96S)

Ref Sequence

ENSEMBL: ENSMUSP00000113680 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000119118
AA Change: F96S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113680
Gene: ENSMUSG00000030518
AA Change: F96S

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

noncoding transcript
Transcript: ENSMUST00000144535

Predicted Effect

probably benign
Transcript: ENSMUST00000148459

SMART Domains

Protein: ENSMUSP00000116119
Gene: ENSMUSG00000030518

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

Predicted Effect

probably benign
Transcript: ENSMUST00000149851

SMART Domains

Protein: ENSMUSP00000115095
Gene: ENSMUSG00000030518

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	C	A	1: 105,693,167	Q456K	probably benign	Het
4933427D14Rik	T	A	11: 72,175,200		probably null	Het
Abca13	A	T	11: 9,258,546	I240F	possibly damaging	Het
Accs	A	G	2: 93,836,083	Y420H	probably damaging	Het
Aco2	T	C	15: 81,889,319	Y20H	probably damaging	Het
Adck2	T	C	6: 39,583,935	V419A	probably benign	Het
Bahd1	T	A	2: 118,916,270	N123K	probably damaging	Het
BC027072	T	C	17: 71,752,425	K86E	possibly damaging	Het
Cast	A	G	13: 74,695,889		probably null	Het
Cd164l2	T	A	4: 133,223,705	V157E	probably damaging	Het
Cdk11b	C	T	4: 155,634,147	Q185*	probably null	Het
Ces2g	T	C	8: 104,967,442	F470S	probably benign	Het
Cherp	C	G	8: 72,467,980	Q313H	probably damaging	Het
Chrna4	A	G	2: 181,033,980	V110A	possibly damaging	Het
Cndp2	A	G	18: 84,672,124	V231A	probably benign	Het
Cst7	A	T	2: 150,570,568	H17L	probably benign	Het
Decr1	C	T	4: 15,919,244	D300N	probably damaging	Het
Dennd4b	G	A	3: 90,268,368	R148Q	probably damaging	Het
Dgkb	T	G	12: 38,127,364	V230G	probably damaging	Het
Dis3l2	T	C	1: 86,973,404	V439A	possibly damaging	Het
Disp3	C	T	4: 148,258,157	G612D	probably benign	Het
Dock7	T	C	4: 98,944,735	T1962A	probably damaging	Het
Fibp	T	A	19: 5,464,199	V304E	possibly damaging	Het
Flt3	T	A	5: 147,332,997		probably null	Het
Kifc3	G	A	8: 95,108,459	Q233*	probably null	Het
Klhl42	C	A	6: 147,108,112	S483Y	probably benign	Het
Map3k19	G	A	1: 127,834,547	R276*	probably null	Het
Mecom	A	G	3: 30,238,100	S87P	probably damaging	Het
Med13	A	G	11: 86,327,838	V416A	probably benign	Het
Mepe	G	A	5: 104,338,212	G406D	probably damaging	Het
Met	T	G	6: 17,534,176	L673V	probably benign	Het
Mlh3	A	T	12: 85,268,493	Y306*	probably null	Het
Nrxn2	C	A	19: 6,490,091	A814E	probably damaging	Het
Nsmaf	C	T	4: 6,398,621	V828I	probably benign	Het
Olfr137	T	A	17: 38,305,073	K129N	possibly damaging	Het
Olfr824	A	T	10: 130,126,859	L66H	probably damaging	Het
Panx1	A	G	9: 15,007,633	I310T	possibly damaging	Het
Pcdhb6	T	A	18: 37,334,389	L121Q	probably damaging	Het
Plekha7	G	A	7: 116,164,149	T406I	probably benign	Het
Prtg	T	C	9: 72,851,704	S447P	probably damaging	Het
Ptprr	A	G	10: 116,251,149	Y267C	probably damaging	Het
Rbpjl	A	G	2: 164,408,062	T134A	probably benign	Het
Rpe	C	A	1: 66,706,466	T55N	probably damaging	Het
Scn1a	T	C	2: 66,324,797	D606G	probably benign	Het
Setd5	T	A	6: 113,147,502	N1105K	probably benign	Het
Sh3d21	T	C	4: 126,162,236	N126D	possibly damaging	Het
Shank1	A	G	7: 44,344,315		probably benign	Het
Srgap3	T	A	6: 112,739,078	D627V	probably damaging	Het
Tacc2	T	A	7: 130,674,606	S1796T	probably damaging	Het
Tcrg-C4	A	T	13: 19,352,307	R178S	unknown	Het
Tmco3	G	A	8: 13,294,870	V217I	probably damaging	Het
Tspan10	A	T	11: 120,444,715	Y217F	possibly damaging	Het
Usp3	G	A	9: 66,544,021	T153M	possibly damaging	Het
Xdh	G	T	17: 73,897,764	T1067K	probably benign	Het
Zfp334	T	C	2: 165,380,584	D513G	probably benign	Het

Other mutations in Fam189a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02053:Fam189a1	APN	7	64819842	missense	probably damaging	1.00
IGL02567:Fam189a1	APN	7	64786731	missense	possibly damaging	0.95
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
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

Predicted Primers

PCR Primer
(F):5'- TCCCTGAGACGTGAAGAACATG -3'
(R):5'- ACTTGCCGTGGTTTCTCAG -3'

Sequencing Primer
(F):5'- GGTACAATTTGCCCTTAAACGTC -3'
(R):5'- CACTTTTGCTATTCAGGGTAATAGG -3'

Posted On

2016-10-24