Mutagenetix > Incidental Mutations

Incidental Mutation 'R0931:Fam160a1'

80861

Institutional Source

Beutler Lab

Gene Symbol

Fam160a1

Ensembl Gene

ENSMUSG00000051000

Gene Name

family with sequence similarity 160, member A1

Synonyms

9930021J17Rik

MMRRC Submission

039075-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0931 (G1)

Quality Score

113

Status

Not validated

Chromosome

Chromosomal Location

85660061-85817291 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 85673243 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 552 (S552P)

Ref Sequence

ENSEMBL: ENSMUSP00000113235 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094148] [ENSMUST00000118408] [ENSMUST00000119077] [ENSMUST00000154148]

Predicted Effect

probably benign
Transcript: ENSMUST00000094148
AA Change: S552P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000091700
Gene: ENSMUSG00000051000
AA Change: S552P

Domain	Start	End	E-Value	Type
Pfam:RAI16-like	88	411	1.2e-102	PFAM
low complexity region	483	500	N/A	INTRINSIC
low complexity region	613	622	N/A	INTRINSIC
low complexity region	838	853	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000118408
AA Change: S552P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000113235
Gene: ENSMUSG00000051000
AA Change: S552P

Domain	Start	End	E-Value	Type
Pfam:RAI16-like	88	411	1.1e-98	PFAM
low complexity region	483	500	N/A	INTRINSIC
low complexity region	613	622	N/A	INTRINSIC
low complexity region	838	853	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000119077

SMART Domains

Protein: ENSMUSP00000112705
Gene: ENSMUSG00000051000

Domain	Start	End	E-Value	Type
low complexity region	67	84	N/A	INTRINSIC
low complexity region	197	206	N/A	INTRINSIC
low complexity region	422	437	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126445

Predicted Effect

probably benign
Transcript: ENSMUST00000154148

SMART Domains

Protein: ENSMUSP00000116393
Gene: ENSMUSG00000102805

Domain	Start	End	E-Value	Type
Arfaptin	1	227	7.15e-121	SMART

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 96.0%

Validation Efficiency

100% (42/42)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl1	G	A	4: 86,249,847	A476T	probably benign	Het
Aknad1	T	C	3: 108,752,023	S118P	probably damaging	Het
Arhgap20	A	G	9: 51,816,741	T85A	probably benign	Het
Astn2	A	G	4: 65,648,293	L824P	probably damaging	Het
Ccr1	C	A	9: 123,963,790	K234N	probably damaging	Het
Cfap46	T	C	7: 139,655,841	R203G	probably damaging	Het
Col8a1	A	G	16: 57,628,568	I193T	unknown	Het
Cpa2	T	C	6: 30,552,071		probably benign	Het
Crabp1	T	C	9: 54,768,433	L100P	possibly damaging	Het
Cspp1	A	T	1: 10,104,286	R655W	probably damaging	Het
Ddx1	A	T	12: 13,237,817		probably benign	Het
Dnah7b	T	G	1: 46,099,612		probably benign	Het
Dzip3	A	G	16: 48,951,558	S583P	probably damaging	Het
Exosc1	A	G	19: 41,933,237		probably benign	Het
Gas7	A	T	11: 67,652,925		probably benign	Het
Gm996	T	C	2: 25,578,489	E470G	possibly damaging	Het
Gss	A	T	2: 155,567,689		probably benign	Het
Hdhd3	G	A	4: 62,499,520	R140*	probably null	Het
Irx2	T	A	13: 72,631,556	S320T	possibly damaging	Het
Kcnf1	T	C	12: 17,175,141	S360G	possibly damaging	Het
Klk1b4	T	C	7: 44,211,056	L166P	probably damaging	Het
Klri1	A	T	6: 129,697,418		probably benign	Het
Mettl27	T	C	5: 134,934,431		probably benign	Het
Myrfl	T	A	10: 116,839,449	H193L	probably benign	Het
Nbas	C	T	12: 13,331,114		probably benign	Het
Olfr455	C	A	6: 42,538,086	R312L	probably benign	Het
Olfr691	A	T	7: 105,337,529	Y62*	probably null	Het
Papolg	A	G	11: 23,882,257	I177T	probably damaging	Het
Pdcd1	A	G	1: 94,039,513	V220A	probably benign	Het
Psmc1	T	C	12: 100,119,082	L234P	probably damaging	Het
Rasa2	A	T	9: 96,552,404	M610K	possibly damaging	Het
Ryr3	A	G	2: 112,653,702	F3930S	probably damaging	Het
Sacs	G	A	14: 61,203,495	V997I	probably benign	Het
Setdb2	A	G	14: 59,423,496		probably benign	Het
Ssu2	C	A	6: 112,384,398	L32F	probably damaging	Het
Taar1	A	T	10: 23,921,283	N293I	probably damaging	Het
Ttn	A	G	2: 76,781,502		probably benign	Het
Vmn2r49	T	C	7: 9,986,398	M389V	possibly damaging	Het
Wdr7	T	C	18: 63,865,300	V1106A	probably benign	Het
Zfp324	A	G	7: 12,966,258	I15V	probably benign	Het

Other mutations in Fam160a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00588:Fam160a1	APN	3	85672618	missense	probably benign	0.01
IGL01102:Fam160a1	APN	3	85665501	intron	probably benign
IGL01317:Fam160a1	APN	3	85672846	missense	probably benign	0.01
IGL01759:Fam160a1	APN	3	85688447	missense	probably damaging	1.00
IGL02007:Fam160a1	APN	3	85722445	missense	probably damaging	1.00
IGL02037:Fam160a1	APN	3	85730632	missense	probably damaging	0.99
IGL02163:Fam160a1	APN	3	85688552	missense	possibly damaging	0.92
IGL02192:Fam160a1	APN	3	85673326	missense	possibly damaging	0.82
IGL02617:Fam160a1	APN	3	85673037	missense	probably benign	0.00
PIT4378001:Fam160a1	UTSW	3	85730551	missense	probably damaging	1.00
PIT4520001:Fam160a1	UTSW	3	85672472	nonsense	probably null
PIT4651001:Fam160a1	UTSW	3	85683641	missense	probably damaging	1.00
R0590:Fam160a1	UTSW	3	85672376	missense	probably benign	0.13
R0625:Fam160a1	UTSW	3	85730500	missense	possibly damaging	0.84
R0648:Fam160a1	UTSW	3	85730614	missense	probably damaging	1.00
R0940:Fam160a1	UTSW	3	85665490	missense	possibly damaging	0.92
R0941:Fam160a1	UTSW	3	85673059	missense	probably benign	0.03
R1115:Fam160a1	UTSW	3	85722495	missense	probably benign	0.02
R1161:Fam160a1	UTSW	3	85672468	missense	probably damaging	0.96
R1460:Fam160a1	UTSW	3	85730876	missense	probably damaging	1.00
R1503:Fam160a1	UTSW	3	85672477	missense	possibly damaging	0.70
R1545:Fam160a1	UTSW	3	85665954	missense	probably damaging	1.00
R1820:Fam160a1	UTSW	3	85665829	missense	probably damaging	1.00
R1907:Fam160a1	UTSW	3	85672633	missense	probably benign	0.00
R1911:Fam160a1	UTSW	3	85661218	missense	probably benign	0.12
R1928:Fam160a1	UTSW	3	85688531	missense	probably damaging	1.00
R2200:Fam160a1	UTSW	3	85730321	missense	probably damaging	1.00
R2235:Fam160a1	UTSW	3	85661101	missense	probably damaging	0.97
R2373:Fam160a1	UTSW	3	85676097	nonsense	probably null
R3084:Fam160a1	UTSW	3	85665968	critical splice acceptor site	probably null
R4125:Fam160a1	UTSW	3	85665383	missense	possibly damaging	0.87
R4601:Fam160a1	UTSW	3	85741180	missense	probably damaging	1.00
R4612:Fam160a1	UTSW	3	85730372	nonsense	probably null
R4665:Fam160a1	UTSW	3	85730681	missense	probably damaging	1.00
R4673:Fam160a1	UTSW	3	85730713	missense	probably damaging	1.00
R4707:Fam160a1	UTSW	3	85688570	missense	probably damaging	1.00
R4783:Fam160a1	UTSW	3	85688570	missense	probably damaging	1.00
R4785:Fam160a1	UTSW	3	85688570	missense	probably damaging	1.00
R4825:Fam160a1	UTSW	3	85673432	missense	possibly damaging	0.93
R4884:Fam160a1	UTSW	3	85683611	missense	probably damaging	1.00
R5653:Fam160a1	UTSW	3	85722501	missense	probably damaging	1.00
R5663:Fam160a1	UTSW	3	85672433	missense	probably benign
R5764:Fam160a1	UTSW	3	85665865	missense	probably damaging	1.00
R6134:Fam160a1	UTSW	3	85673344	missense	possibly damaging	0.93
R6284:Fam160a1	UTSW	3	85672688	missense	probably benign	0.01
R6789:Fam160a1	UTSW	3	85672558	nonsense	probably null
R6843:Fam160a1	UTSW	3	85673045	missense	probably damaging	0.96
R7305:Fam160a1	UTSW	3	85730524	missense	probably damaging	1.00
R7406:Fam160a1	UTSW	3	85730477	missense	probably benign	0.13
R7448:Fam160a1	UTSW	3	85672564	missense	probably benign	0.00
R7469:Fam160a1	UTSW	3	85672762	missense	probably benign	0.00
R7578:Fam160a1	UTSW	3	85665898	missense	probably damaging	0.99
R7707:Fam160a1	UTSW	3	85676253	missense	probably benign	0.21

Predicted Primers

PCR Primer
(F):5'- AGTCTGACTCCTCAATGTAGGACCC -3'
(R):5'- GCACGAATTCCCACCTCTCTGATG -3'

Sequencing Primer
(F):5'- TCAATGTAGGACCCCTTGAAG -3'
(R):5'- GCTCTTGCACAGGATCTGAG -3'

Posted On

2013-11-07