Mutagenetix > Incidental Mutations

Incidental Mutation 'R0941:Fam160a1'

82574

Institutional Source

Beutler Lab

Gene Symbol

Fam160a1

Ensembl Gene

ENSMUSG00000051000

Gene Name

family with sequence similarity 160, member A1

Synonyms

9930021J17Rik

MMRRC Submission

039080-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0941 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85660061-85817291 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 85673059 bp

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 613 (P613Q)

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: P613Q

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000091700
Gene: ENSMUSG00000051000
AA Change: P613Q

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: P613Q

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000113235
Gene: ENSMUSG00000051000
AA Change: P613Q

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 96.9%
20x: 93.9%

Validation Efficiency

97% (36/37)

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaa2	G	T	18: 74,798,343	M203I	probably benign	Het
Afmid	T	A	11: 117,835,245		probably benign	Het
Ahnak	A	G	19: 9,009,914	D2854G	probably damaging	Het
Amotl1	A	C	9: 14,596,558	I31S	possibly damaging	Het
Arf3	A	G	15: 98,741,103	V91A	probably benign	Het
Atp1b1	A	C	1: 164,443,260	I50S	probably benign	Het
Baz1a	A	T	12: 54,898,431	S1380T	probably benign	Het
C4b	T	A	17: 34,740,055	T467S	probably benign	Het
Casd1	T	C	6: 4,635,848	S640P	probably damaging	Het
Col4a1	C	T	8: 11,208,296	G1396S	unknown	Het
Extl1	TGCGTTGCACCGATACCGGG	TG	4: 134,357,677		probably benign	Het
Gm12695	C	A	4: 96,728,217	E460*	probably null	Het
Gnmt	A	G	17: 46,726,345	L171P	probably damaging	Het
Gpc1	G	A	1: 92,857,309	R358H	possibly damaging	Het
Igsf8	C	T	1: 172,316,396	R39C	probably damaging	Het
Kdm3b	T	A	18: 34,803,552	C296S	probably damaging	Het
Lama1	C	T	17: 67,775,865	P1373S	probably benign	Het
Lamc1	A	G	1: 153,332,274	L89P	possibly damaging	Het
Ltc4s	T	G	11: 50,237,442		probably null	Het
Met	A	T	6: 17,491,394	I52F	probably damaging	Het
Mterf2	G	A	10: 85,120,070	T230M	possibly damaging	Het
Mybpc2	T	C	7: 44,506,887	K834R	probably benign	Het
Npr1	A	T	3: 90,461,409	I448N	probably benign	Het
Olfr654	C	T	7: 104,588,338	T178I	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Serpini1	A	T	3: 75,616,627	I181F	probably damaging	Het
Shc3	T	C	13: 51,480,206	M88V	probably benign	Het
Skint6	T	A	4: 113,238,358	S35C	probably damaging	Het
Spta1	T	C	1: 174,245,205		probably benign	Het
Sult2a2	C	T	7: 13,734,890	R94*	probably null	Het
Trim9	A	G	12: 70,248,263	V787A	probably damaging	Het
Ttn	A	G	2: 76,719,023	V31770A	probably benign	Het
Unc5d	T	C	8: 28,759,027	N337D	possibly damaging	Het
Vmn2r7	A	T	3: 64,716,579	Y107N	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
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'- TGTAGCTCTGAGGTGTCCTCCAAC -3'
(R):5'- AGAGTGTGGTCAGCCCTCTATGATG -3'

Sequencing Primer
(F):5'- TCCGAAGTGTCCTCCAGTG -3'
(R):5'- TCTATGATGGGGACTCACCTGAC -3'

Posted On

2013-11-08