Mutagenetix > Incidental Mutations

Incidental Mutation 'R4673:Fam160a1'

348598

Institutional Source

Beutler Lab

Gene Symbol

Fam160a1

Ensembl Gene

ENSMUSG00000051000

Gene Name

family with sequence similarity 160, member A1

Synonyms

9930021J17Rik

MMRRC Submission

041928-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4673 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

85660061-85817291 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 85730713 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 93 (V93D)

Ref Sequence

ENSEMBL: ENSMUSP00000113235 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000094148
AA Change: V93D

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

SMART Domains

Protein: ENSMUSP00000091700
Gene: ENSMUSG00000051000
AA Change: V93D

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 damaging
Transcript: ENSMUST00000118408
AA Change: V93D

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

SMART Domains

Protein: ENSMUSP00000113235
Gene: ENSMUSG00000051000
AA Change: V93D

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

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: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam32	T	C	8: 24,884,455	E507G	probably damaging	Het
Adam39	C	T	8: 40,824,731	T53I	probably benign	Het
Adam4	A	T	12: 81,421,761	S29T	possibly damaging	Het
Adamdec1	C	A	14: 68,577,904	E104*	probably null	Het
Alas1	G	T	9: 106,236,477	P523Q	probably damaging	Het
Aldh3a1	A	G	11: 61,213,494	D69G	probably benign	Het
Arhgap29	T	A	3: 122,014,971	V1266E	probably damaging	Het
Bcdin3d	T	C	15: 99,470,838	D160G	probably damaging	Het
Btaf1	T	A	19: 36,978,372	F569I	probably benign	Het
Cacna1b	A	G	2: 24,631,944	L1718S	probably damaging	Het
Casd1	A	G	6: 4,629,975	Y457C	probably damaging	Het
Creb3	T	C	4: 43,563,192	V97A	probably benign	Het
Cux2	G	T	5: 121,887,476	S43*	probably null	Het
Fsbp	T	G	4: 11,579,841	N36K	probably benign	Het
Gm11565	A	G	11: 99,915,214	D144G	probably benign	Het
Gm7534	G	A	4: 134,200,347	A365V	probably benign	Het
Gpn3	A	G	5: 122,373,918	Y19C	probably damaging	Het
Gstz1	A	T	12: 87,162,063	T148S	probably benign	Het
Gtf3c5	A	G	2: 28,572,224	I282T	probably benign	Het
Hspa2	T	A	12: 76,405,740	S403T	possibly damaging	Het
Il27	G	A	7: 126,591,079	T121I	possibly damaging	Het
Itpr2	A	G	6: 146,373,173	F837S	probably damaging	Het
Kctd1	T	A	18: 15,063,227		probably benign	Het
Kynu	A	G	2: 43,679,803	T366A	probably damaging	Het
Lama5	G	A	2: 180,199,266	T507I	probably damaging	Het
Myh11	C	T	16: 14,269,241	V124M	probably damaging	Het
Myh14	T	A	7: 44,624,330	H1331L	probably damaging	Het
Myh2	T	A	11: 67,188,477	L957Q	probably damaging	Het
Myh4	T	C	11: 67,246,401	F483L	probably benign	Het
Nbeal1	A	C	1: 60,329,390	K2631N	probably damaging	Het
Ofcc1	G	A	13: 40,015,388	T841I	probably damaging	Het
Ogg1	T	C	6: 113,327,307	C28R	probably damaging	Het
Olfr1449	G	A	19: 12,935,097	A120T	probably damaging	Het
Olfr157	T	C	4: 43,836,430	H20R	probably benign	Het
Olfr181	C	T	16: 58,925,690	V294I	possibly damaging	Het
Olfr49	C	T	14: 54,282,332	A188T	possibly damaging	Het
Olfr855	A	G	9: 19,585,430	K298E	possibly damaging	Het
Parp6	G	C	9: 59,640,110	R460P	probably damaging	Het
Phf14	A	G	6: 11,992,057	H744R	probably damaging	Het
Pibf1	A	G	14: 99,133,351	N263S	possibly damaging	Het
Plcb4	A	G	2: 135,932,271	T158A	possibly damaging	Het
Plce1	T	C	19: 38,749,396	S1615P	possibly damaging	Het
Plxna3	T	G	X: 74,338,948		probably null	Het
Rad54b	T	A	4: 11,609,449	H633Q	probably benign	Het
Rgs22	T	A	15: 36,099,933	Y212F	probably benign	Het
Rnd3	G	A	2: 51,132,541	A163V	probably benign	Het
Rnf10	A	T	5: 115,251,089	V315E	probably damaging	Het
Robo2	C	T	16: 73,904,378		probably null	Het
Rp1l1	T	G	14: 64,031,270	V1435G	probably damaging	Het
Scaf8	T	A	17: 3,197,985	D1194E	probably benign	Het
Sept12	T	C	16: 4,991,943	T198A	probably damaging	Het
Shisa2	A	G	14: 59,630,180	T294A	probably damaging	Het
Spta1	A	G	1: 174,191,062		probably null	Het
Strbp	A	T	2: 37,645,679	S6T	probably damaging	Het
Syf2	A	G	4: 134,934,493	E56G	probably damaging	Het
Thap4	T	C	1: 93,714,866		probably benign	Het
Tnfaip3	T	C	10: 19,011,832		probably benign	Het
Tnxb	A	G	17: 34,672,540	E619G	probably damaging	Het
Tpr	G	A	1: 150,423,567	A1173T	probably benign	Het
Tspan3	G	A	9: 56,136,696	R240W	probably damaging	Het
Ubr4	C	T	4: 139,410,716	S1128L	probably damaging	Het
Ucp1	T	C	8: 83,295,247	V236A	probably damaging	Het
Usp34	TCACCACCACCACCACCACCACCACCAC	TCACCACCACCACCACCACCACCAC	11: 23,364,480		probably benign	Het
Zcchc6	G	T	13: 59,796,845	T658K	probably damaging	Het
Zfp940	T	C	7: 29,845,438	D348G	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
R0931:Fam160a1	UTSW	3	85673243	missense	probably benign
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
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
R8071:Fam160a1	UTSW	3	85730561	missense	probably damaging	1.00
R8093:Fam160a1	UTSW	3	85672804	missense	probably benign	0.01
R8151:Fam160a1	UTSW	3	85688540	missense	probably damaging	1.00
R8391:Fam160a1	UTSW	3	85688481	missense	probably damaging	0.98
R8406:Fam160a1	UTSW	3	85672720	missense	probably benign	0.02
Z1176:Fam160a1	UTSW	3	85673201	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AGCTCAGCAACATCATGAGGG -3'
(R):5'- CTGTGAATTTGGTAAAGCAAGTGG -3'

Sequencing Primer
(F):5'- CAGCAACATCATGAGGGGCTTC -3'
(R):5'- TATTATGGTAAATGGCAGTAGGTGAC -3'

Posted On

2015-10-08