Mutagenetix > Incidental Mutations

Incidental Mutation 'R5852:Fam189a1'

454719

Institutional Source

Beutler Lab

Gene Symbol

Fam189a1

Ensembl Gene

ENSMUSG00000030518

Gene Name

family with sequence similarity 189, member A1

Synonyms

MMRRC Submission

043227-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R5852 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

64756091-65156570 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 64775831 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 171 (H171L)

Ref Sequence

ENSEMBL: ENSMUSP00000115095 (fasta)

Gene Model

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

AlphaFold

Q6A044

Predicted Effect

probably damaging
Transcript: ENSMUST00000119118
AA Change: H267L

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

SMART Domains

Protein: ENSMUSP00000113680
Gene: ENSMUSG00000030518
AA Change: H267L

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: ENSMUST00000133883

Predicted Effect

probably damaging
Transcript: ENSMUST00000149851
AA Change: H171L

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

SMART Domains

Protein: ENSMUSP00000115095
Gene: ENSMUSG00000030518
AA Change: H171L

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: 99.6%
10x: 98.3%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	T	A	12: 118,927,404	I453F	probably damaging	Het
Anpep	C	T	7: 79,838,972	W402*	probably null	Het
Apcdd1	T	C	18: 62,937,063	S134P	probably damaging	Het
Cbwd1	A	G	19: 24,955,405	V88A	possibly damaging	Het
Ccdc154	T	C	17: 25,163,209	V34A	probably benign	Het
Cntn3	A	T	6: 102,420,416	N65K	probably damaging	Het
Cntn6	G	T	6: 104,835,745	V663F	probably damaging	Het
Crisp3	A	T	17: 40,225,820	C201*	probably null	Het
Dnhd1	T	A	7: 105,695,748	W2100R	probably damaging	Het
Dync2h1	A	T	9: 7,011,290	S3634R	probably benign	Het
Gucy1a2	T	C	9: 3,865,460	F645L	probably damaging	Het
Hs6st3	G	T	14: 119,869,326	R382L	probably damaging	Het
Il27	T	A	7: 126,592,614	T89S	possibly damaging	Het
Iqgap2	C	T	13: 95,675,372	R707H	probably damaging	Het
Klhl23	T	A	2: 69,824,269	I161N	probably benign	Het
Lrrk2	G	A	15: 91,755,949	E1566K	probably damaging	Het
Mia3	A	G	1: 183,332,859	V437A	probably benign	Het
Ncoa6	G	T	2: 155,405,499	H1962N	possibly damaging	Het
Nox4	C	T	7: 87,338,964	T361I	probably damaging	Het
Pappa2	T	C	1: 158,717,014	Y1748C	probably damaging	Het
Phyhip	T	C	14: 70,461,929		probably null	Het
Pkhd1	A	G	1: 20,377,408	F2254L	probably benign	Het
Plxnb1	A	G	9: 109,106,450	Y1018C	probably damaging	Het
Pnoc	C	T	14: 65,411,222	V8I	probably benign	Het
Prss29	A	G	17: 25,322,434	D256G	probably benign	Het
Scrn3	T	C	2: 73,331,005	F312L	probably damaging	Het
Sephs1	A	G	2: 4,899,528	E239G	possibly damaging	Het
Tti1	A	G	2: 158,000,673	L812P	probably damaging	Het
Wdr1	A	G	5: 38,537,175	S62P	probably benign	Het
Zfp106	A	G	2: 120,516,006	S1659P	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
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
R5556:Fam189a1	UTSW	7	64856209	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'- TGTCTGAGAGAGGAGCCTTC -3'
(R):5'- GTCATCTCAGGCATGGTGTTC -3'

Sequencing Primer
(F):5'- AGCCTTCTAAGGGCAGGC -3'
(R):5'- GGTGTTCCATCCTGAAGGG -3'

Posted On

2017-02-10