Mutagenetix > Incidental Mutation

Incidental Mutation 'R6284:Fam160a1'

508092

Institutional Source

Beutler Lab

Gene Symbol

Fam160a1

Ensembl Gene

ENSMUSG00000051000

Gene Name

family with sequence similarity 160, member A1

Synonyms

9930021J17Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6284 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

85660061-85817291 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 85672688 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 737 (P737S)

Ref Sequence

ENSEMBL: ENSMUSP00000113235 (fasta)

Gene Model

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

AlphaFold

Q505K2

Predicted Effect

probably benign
Transcript: ENSMUST00000094148
AA Change: P737S

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000091700
Gene: ENSMUSG00000051000
AA Change: P737S

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: P737S

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000113235
Gene: ENSMUSG00000051000
AA Change: P737S

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

0.0624

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.2%

Validation Efficiency

100% (64/64)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610030E20Rik	G	T	6: 72,347,454	G16C	probably damaging	Het
Abca7	G	A	10: 80,004,410	V801I	probably benign	Het
Adgrl2	A	T	3: 148,826,507	L1030Q	probably damaging	Het
Akap1	T	C	11: 88,844,568	T423A	possibly damaging	Het
Anpep	T	A	7: 79,825,802	D111V	probably damaging	Het
Atm	T	A	9: 53,445,376		probably null	Het
Atp5a1	T	A	18: 77,778,468	S106T	probably benign	Het
Atp5k	T	C	5: 108,434,059	I20V	probably benign	Het
Atp6v0d2	T	A	4: 19,922,605		probably null	Het
Bclaf1	T	G	10: 20,322,160		probably null	Het
Bod1l	A	G	5: 41,818,787	V1728A	probably benign	Het
Braf	A	G	6: 39,688,282	F51L	possibly damaging	Het
Camsap2	A	G	1: 136,304,437	I140T	possibly damaging	Het
Ccdc24	A	T	4: 117,869,653		probably null	Het
Cdh26	G	C	2: 178,449,884	G79R	probably damaging	Het
Cenpf	A	G	1: 189,652,742	L2447P	probably damaging	Het
Cfap74	T	C	4: 155,451,796	F863L	probably damaging	Het
Clstn2	C	T	9: 97,454,674	G917S	probably benign	Het
Col6a6	A	T	9: 105,727,227		probably null	Het
Cul5	G	A	9: 53,623,735	P596L	probably damaging	Het
Dst	A	T	1: 34,229,085	R2863W	probably damaging	Het
Dthd1	A	G	5: 62,814,041	E69G	possibly damaging	Het
Erich2	T	A	2: 70,539,684	I402N	probably damaging	Het
Fam162b	T	C	10: 51,585,502	K155R	probably damaging	Het
Glb1l2	A	T	9: 26,767,448	S466T	probably benign	Het
Gm21994	T	A	2: 150,255,278	Y77F	possibly damaging	Het
Gm5724	T	C	6: 141,725,393	D451G	probably damaging	Het
Ikbkap	A	T	4: 56,762,281	I1106K	probably damaging	Het
Kazn	G	A	4: 142,117,197	L402F	probably benign	Het
Kcnj13	A	T	1: 87,386,886	S205T	probably damaging	Het
Lama1	T	A	17: 67,810,096	V2462E	probably damaging	Het
Lce1b	A	C	3: 92,656,104	C41G	unknown	Het
Lyar	T	A	5: 38,225,995	W77R	probably damaging	Het
March11	G	A	15: 26,409,346	R377Q	probably benign	Het
Mis18bp1	A	G	12: 65,138,787	F869L	probably benign	Het
Myom1	T	A	17: 71,022,892	Y6*	probably null	Het
Myzap	T	C	9: 71,558,925	I150V	probably benign	Het
Nop14	C	T	5: 34,641,491		probably null	Het
Oprl1	T	A	2: 181,717,991		probably benign	Het
Pacsin1	T	C	17: 27,708,504	L432P	probably damaging	Het
Peak1	A	G	9: 56,260,296	L116P	probably benign	Het
Plcb2	C	T	2: 118,717,301	V482M	probably benign	Het
Pnliprp1	T	A	19: 58,734,984	I269N	probably damaging	Het
Pnpla7	C	A	2: 25,016,618	D664E	possibly damaging	Het
Ppa2	G	A	3: 133,370,417	R269H	probably benign	Het
Rps6kb2	G	T	19: 4,161,187	T113K	probably benign	Het
Rrp7a	A	T	15: 83,121,860	I63N	probably damaging	Het
Slc29a1	A	G	17: 45,589,921		probably null	Het
Stxbp5	A	C	10: 9,767,179	S1059A	probably benign	Het
Stxbp5	C	A	10: 9,767,187	G1056V	probably damaging	Het
Taldo1	T	A	7: 141,398,583	S149T	possibly damaging	Het
Tlr1	T	C	5: 64,927,099	D45G	possibly damaging	Het
Tnrc6a	T	C	7: 123,171,335	S783P	probably damaging	Het
Trap1	A	G	16: 4,060,809	Y220H	probably benign	Het
Trpc6	A	G	9: 8,643,600	D462G	possibly damaging	Het
Ttc21a	A	G	9: 119,943,962	E235G	probably damaging	Het
Tubb4a	A	G	17: 57,080,833	Y398H	probably damaging	Het
Ube2z	A	G	11: 96,050,407	F303S	probably damaging	Het
Vmn1r211	A	G	13: 22,852,084	S138P	probably damaging	Het
Zfp93	T	A	7: 24,275,629	C346*	probably null	Het
Zfp938	A	T	10: 82,227,566	S52R	possibly damaging	Het
Zp1	A	T	19: 10,916,503	L446Q	probably damaging	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
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
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
R8774:Fam160a1	UTSW	3	85672790	missense	probably benign	0.00
R8774-TAIL:Fam160a1	UTSW	3	85672790	missense	probably benign	0.00
R8843:Fam160a1	UTSW	3	85661011	missense	possibly damaging	0.89
R9079:Fam160a1	UTSW	3	85672283	nonsense	probably null
R9277:Fam160a1	UTSW	3	85672258	missense	probably benign	0.25
R9302:Fam160a1	UTSW	3	85672634	missense	probably damaging	0.99
R9324:Fam160a1	UTSW	3	85730746	missense	probably benign	0.16
R9494:Fam160a1	UTSW	3	85676258	nonsense	probably null
R9516:Fam160a1	UTSW	3	85673252	nonsense	probably null
Z1176:Fam160a1	UTSW	3	85673201	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AATTCTGACTGGGGTTCCGC -3'
(R):5'- GCTATGTGCTGAGAAGGACAC -3'

Sequencing Primer
(F):5'- CCTCAAACGTGGTGGCTATC -3'
(R):5'- AGGACACTTCAGAGCCGCAG -3'

Posted On

2018-03-15