Mutagenetix > Incidental Mutation

Incidental Mutation 'R8400:Fam185a'

647804

Institutional Source

Beutler Lab

Gene Symbol

Fam185a

Ensembl Gene

ENSMUSG00000047221

Gene Name

family with sequence similarity 185, member A

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8400 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

21424958-21482124 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 21438816 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 243 (N243K)

Ref Sequence

ENSEMBL: ENSMUSP00000058333 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056045]

AlphaFold

Q7TPD2

Predicted Effect

probably benign
Transcript: ENSMUST00000056045
AA Change: N243K

PolyPhen 2 Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000058333
Gene: ENSMUSG00000047221
AA Change: N243K

Domain	Start	End	E-Value	Type
low complexity region	11	24	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	G	A	11: 9,293,925	M1929I	probably benign	Het
Abca13	T	C	11: 9,298,218	I2655T	probably damaging	Het
Acad10	A	G	5: 121,626,205	V887A	possibly damaging	Het
Acot10	T	C	15: 20,666,172	E161G	possibly damaging	Het
Astn1	C	T	1: 158,657,100	P919L	probably benign	Het
Atp1a4	T	A	1: 172,234,494	D688V	probably damaging	Het
C4bp	C	A	1: 130,636,747	C400F	probably damaging	Het
Col6a6	A	C	9: 105,774,796	D1005E	probably damaging	Het
Csnk1g3	C	T	18: 53,953,288	R422C	probably benign	Het
Cutc	T	C	19: 43,753,205	S15P	probably benign	Het
Dgkb	T	C	12: 38,602,838		probably null	Het
Disc1	T	C	8: 125,232,993	V748A	probably benign	Het
Dmbt1	C	G	7: 131,082,587	D778E	unknown	Het
Dmxl2	T	C	9: 54,383,753	Y2471C	probably benign	Het
Fchsd2	A	T	7: 101,253,573	Q386L	possibly damaging	Het
Gm904	C	A	13: 50,643,417	P49Q	probably damaging	Het
H2-Q10	C	T	17: 35,470,477	R59C	probably damaging	Het
Ier5l	A	G	2: 30,473,093	Y307H	possibly damaging	Het
Kmt2e	C	A	5: 23,497,092	T906K	probably benign	Het
Kndc1	C	T	7: 139,913,518	R467W	probably damaging	Het
Muc5ac	C	A	7: 141,810,476	T2508K	probably damaging	Het
Nlrp9a	A	T	7: 26,565,006	M784L	probably benign	Het
Nlrp9b	T	A	7: 20,024,012	C391*	probably null	Het
Nubp2	A	C	17: 24,884,465	M146R	probably damaging	Het
Olfr1295	A	T	2: 111,565,402	L14H	probably damaging	Het
Olfr1359	G	A	13: 21,703,915	V305M	probably benign	Het
Olfr1419	T	A	19: 11,871,214	M1L	probably damaging	Het
Olfr43	C	T	11: 74,206,395	V274M	possibly damaging	Het
Olfr694	T	A	7: 106,689,669	S21C	probably benign	Het
Olfr857	A	T	9: 19,713,093	N89Y	probably benign	Het
Otud1	T	C	2: 19,658,378	V106A	possibly damaging	Het
Pcdhac1	T	A	18: 37,092,400	Y755*	probably null	Het
Pkd1l3	C	T	8: 109,623,888	P455L	possibly damaging	Het
Ptprb	GAGACCCTCGGGAGCACTGCAGAGACCCTCAGGAACACTGCAAAGACCCTCGGGAGCACTGCAGAGACCCTCAGGAACACTGCAAAGACCCTCGGGAGCACTGCAGAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	GAGACCCTCGGGAGCACTGCAGAGACCCTCAGGAACACTGCAAAGACCCTCGGGAGCACTGCAGAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	10: 116,283,572		probably benign	Het
Samhd1	T	C	2: 157,099,433	E648G	probably benign	Het
Smarca5	T	C	8: 80,709,127	T794A	probably benign	Het
Spc24	A	T	9: 21,757,730	L87H	probably damaging	Het
Sppl2b	TGTCACAGGT	TGT	10: 80,866,069		probably null	Het
Stra6l	G	A	4: 45,864,905	R77Q	probably damaging	Het
Tdrd1	G	A	19: 56,848,649	V472M	probably benign	Het
Tsc2	A	T	17: 24,604,987	I948K	possibly damaging	Het
Ttc39d	T	C	17: 80,216,005	V31A	probably benign	Het
Vmn1r158	A	T	7: 22,789,880	C301*	probably null	Het
Vmn2r22	A	T	6: 123,637,527	L368*	probably null	Het
Vmn2r79	A	G	7: 87,002,100	T236A	probably benign	Het
Vwa1	T	C	4: 155,772,768	H191R	probably benign	Het
Zdbf2	T	A	1: 63,304,976	V838E	possibly damaging	Het

Other mutations in Fam185a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00726:Fam185a	APN	5	21480342	missense	probably damaging	1.00
IGL01980:Fam185a	APN	5	21459173	missense	probably damaging	1.00
IGL02096:Fam185a	APN	5	21425343	missense	probably damaging	1.00
IGL02264:Fam185a	APN	5	21480394	missense	possibly damaging	0.63
IGL02553:Fam185a	APN	5	21455831	missense	probably damaging	1.00
IGL02553:Fam185a	APN	5	21429841	splice site	probably benign
IGL03082:Fam185a	APN	5	21455838	missense	possibly damaging	0.49
famine	UTSW	5	21425454	missense	probably benign	0.00
R0389:Fam185a	UTSW	5	21459285	missense	probably damaging	0.99
R1872:Fam185a	UTSW	5	21480330	critical splice acceptor site	probably null
R1883:Fam185a	UTSW	5	21425244	missense	possibly damaging	0.85
R3775:Fam185a	UTSW	5	21455806	missense	probably damaging	1.00
R4190:Fam185a	UTSW	5	21425124	unclassified	probably benign
R4192:Fam185a	UTSW	5	21425124	unclassified	probably benign
R4194:Fam185a	UTSW	5	21425454	missense	probably benign	0.00
R4704:Fam185a	UTSW	5	21480473	utr 3 prime	probably benign
R4724:Fam185a	UTSW	5	21455787	missense	probably damaging	1.00
R4837:Fam185a	UTSW	5	21480377	missense	probably benign	0.00
R6225:Fam185a	UTSW	5	21425556	missense	probably damaging	0.99
R6438:Fam185a	UTSW	5	21458972	splice site	probably null
R6475:Fam185a	UTSW	5	21425283	missense	probably benign	0.01
R7512:Fam185a	UTSW	5	21447358	critical splice donor site	probably null
R8690:Fam185a	UTSW	5	21433768	missense	probably benign	0.32
R9157:Fam185a	UTSW	5	21455839	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACGCTGGTCTTTGCTCTAGAG -3'
(R):5'- TGTACATGCATGCACAGGC -3'

Sequencing Primer
(F):5'- ACAGTGCCTCATGTTAAGGTGACC -3'
(R):5'- AGTCAGAACTACTATTAGCTTT -3'

Posted On

2020-09-02