Mutagenetix > Incidental Mutation

Incidental Mutation 'R7406:Fam160a1'

574723

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

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7406 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

85660061-85817291 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 85730477 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 172 (I172V)

Ref Sequence

ENSEMBL: ENSMUSP00000091700 (fasta)

Gene Model

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

AlphaFold

Q505K2

Predicted Effect

probably benign
Transcript: ENSMUST00000094148
AA Change: I172V

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000091700
Gene: ENSMUSG00000051000
AA Change: I172V

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: I172V

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000113235
Gene: ENSMUSG00000051000
AA Change: I172V

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

Validation Efficiency

98% (60/61)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810459M11Rik	T	C	1: 86,046,509	S183P	possibly damaging	Het
2900092C05Rik	A	G	7: 12,515,464	T75A	possibly damaging	Het
Abhd8	A	G	8: 71,461,762	V74A	probably benign	Het
Agrn	A	C	4: 156,172,301	S1282R	possibly damaging	Het
Atf5	T	C	7: 44,812,956	N248S	possibly damaging	Het
Atp2a3	A	G	11: 72,978,750	Y497C	probably damaging	Het
BC053393	A	G	11: 46,577,458	T120A	possibly damaging	Het
Bpifa2	T	G	2: 154,009,819	S58R	probably benign	Het
Cacna1h	C	T	17: 25,385,626	E1238K	possibly damaging	Het
Ccdc71	T	A	9: 108,463,324	L112*	probably null	Het
Cd300e	A	T	11: 115,055,302	I111N	probably damaging	Het
Cdkl3	A	T	11: 52,033,542	E552D	probably benign	Het
Chst5	A	G	8: 111,890,613	V125A	probably benign	Het
Clock	A	T	5: 76,266,845	M1K	probably null	Het
Cops7b	T	A	1: 86,601,130	L193Q	probably benign	Het
Csmd1	T	C	8: 16,288,693	T467A	probably damaging	Het
Ctr9	A	G	7: 111,053,408	E971G	unknown	Het
Dcp2	A	G	18: 44,410,187	T271A	probably benign	Het
Dsp	A	G	13: 38,197,196	N2639S	possibly damaging	Het
Gm11168	C	G	9: 3,006,912	C212W	probably benign	Het
Gpr179	G	T	11: 97,351,594	D141E	probably damaging	Het
Hdhd2	C	T	18: 76,944,115	T89M	probably benign	Het
Hist1h2bc	A	G	13: 23,684,359	Y43C	probably damaging	Het
Krt6b	T	G	15: 101,679,078	T194P	probably benign	Het
Lrp1b	T	C	2: 41,376,018		probably null	Het
Maneal	A	T	4: 124,860,368	I214N	possibly damaging	Het
Map1lc3b	T	A	8: 121,590,616	C11S	unknown	Het
Mapt	G	A	11: 104,322,524	G296E	possibly damaging	Het
Mettl7a3	T	C	15: 100,335,408	V160A	probably benign	Het
Mgam	A	G	6: 40,663,525	N509S	probably benign	Het
Mrgprx1	T	A	7: 48,021,985	I5F	possibly damaging	Het
Mroh5	T	C	15: 73,787,734	D416G	probably benign	Het
Ncan	T	G	8: 70,110,099	D503A	probably benign	Het
Nedd1	A	T	10: 92,711,323		probably null	Het
Ogdh	A	G	11: 6,348,351	T641A	probably benign	Het
Olfr11	T	C	13: 21,639,146	I126V	probably benign	Het
Olfr730	T	A	14: 50,186,558	I221F	probably damaging	Het
Olfr818	A	T	10: 129,945,566	D50E	probably benign	Het
Olfr904	T	A	9: 38,464,143	M34K	possibly damaging	Het
Pcdhga8	A	C	18: 37,726,185	Q98P	possibly damaging	Het
Pik3c2a	A	G	7: 116,354,007	Y1218H	probably damaging	Het
Ppp3cc	A	T	14: 70,245,938	S229T	possibly damaging	Het
Prss43	T	G	9: 110,828,696	I221S	probably damaging	Het
Rasal1	A	T	5: 120,662,937	T221S	probably benign	Het
Serpinb9f	G	T	13: 33,334,560	E348*	probably null	Het
Sfxn5	A	G	6: 85,267,907	Y169H	probably damaging	Het
Skint9	T	C	4: 112,389,231	N228S	probably benign	Het
Slx4ip	A	T	2: 137,000,242	D29V	probably damaging	Het
Snx29	G	T	16: 11,755,316	G474V	probably damaging	Het
Spata6	T	A	4: 111,780,820	D282E	possibly damaging	Het
Srek1	A	T	13: 103,769,382	V77E	probably damaging	Het
Tnfrsf22	T	C	7: 143,640,827	D121G	probably damaging	Het
Ucma	G	A	2: 4,985,359	W122*	probably null	Het
Vmn2r124	T	C	17: 18,062,044	M113T	unknown	Het
Vmn2r54	A	T	7: 12,616,223		probably null	Het
Vmn2r8	A	G	5: 108,800,576	L482S	probably benign	Het
Vwa3a	T	A	7: 120,778,915	I476N	probably damaging	Het
Vwa8	A	C	14: 78,982,234		probably null	Het
Wdr26	A	T	1: 181,187,675	S390R	probably damaging	Het
Zbtb40	A	T	4: 137,000,894	S471T	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
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
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
R9638:Fam160a1	UTSW	3	85661084	missense	probably damaging	0.99
R9654:Fam160a1	UTSW	3	85672225	missense	probably damaging	1.00
Z1176:Fam160a1	UTSW	3	85673201	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TGATTGGCCACCATGCTGTTC -3'
(R):5'- TCCTTTGGAGCTTGAGACGAG -3'

Sequencing Primer
(F):5'- GCCCTCTCGATGAATGAA -3'
(R):5'- CTTTGGAGCTTGAGACGAGAATTCAC -3'

Posted On

2019-10-07