Mutagenetix > Incidental Mutation

Incidental Mutation 'R7808:Fam160a2'

600940

Institutional Source

Beutler Lab

Gene Symbol

Fam160a2

Ensembl Gene

ENSMUSG00000044465

Gene Name

family with sequence similarity 160, member A2

Synonyms

4632419K20Rik, 6530415H11Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7808 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

105371211-105400054 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 105384525 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 509 (R509C)

Ref Sequence

ENSEMBL: ENSMUSP00000045084 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048079] [ENSMUST00000074686] [ENSMUST00000118726] [ENSMUST00000122327] [ENSMUST00000137158] [ENSMUST00000179474] [ENSMUST00000210448] [ENSMUST00000211549]

AlphaFold

Q3U2I3

Predicted Effect

probably damaging
Transcript: ENSMUST00000048079
AA Change: R509C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000045084
Gene: ENSMUSG00000044465
AA Change: R509C

Domain	Start	End	E-Value	Type
Pfam:RAI16-like	96	426	2.8e-99	PFAM
low complexity region	482	501	N/A	INTRINSIC
low complexity region	527	544	N/A	INTRINSIC
low complexity region	697	710	N/A	INTRINSIC
low complexity region	718	730	N/A	INTRINSIC
low complexity region	891	906	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000074686
AA Change: R495C

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

SMART Domains

Protein: ENSMUSP00000074252
Gene: ENSMUSG00000044465
AA Change: R495C

Domain	Start	End	E-Value	Type
Pfam:RAI16-like	96	426	4.4e-100	PFAM
low complexity region	482	501	N/A	INTRINSIC
low complexity region	527	544	N/A	INTRINSIC
low complexity region	697	710	N/A	INTRINSIC
low complexity region	718	730	N/A	INTRINSIC
low complexity region	825	840	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000118726
AA Change: R509C

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

SMART Domains

Protein: ENSMUSP00000112605
Gene: ENSMUSG00000044465
AA Change: R509C

Domain	Start	End	E-Value	Type
Pfam:RAI16-like	96	426	1.8e-99	PFAM
low complexity region	496	515	N/A	INTRINSIC
low complexity region	541	558	N/A	INTRINSIC
low complexity region	707	722	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000122327
AA Change: R495C

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

SMART Domains

Protein: ENSMUSP00000112711
Gene: ENSMUSG00000044465
AA Change: R495C

Domain	Start	End	E-Value	Type
Pfam:RAI16-like	96	426	5.6e-98	PFAM
low complexity region	482	501	N/A	INTRINSIC
low complexity region	527	544	N/A	INTRINSIC
low complexity region	697	710	N/A	INTRINSIC
low complexity region	718	730	N/A	INTRINSIC
low complexity region	891	906	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000137158

SMART Domains

Protein: ENSMUSP00000119184
Gene: ENSMUSG00000044465

Domain	Start	End	E-Value	Type
Pfam:RAI16-like	96	259	7.2e-42	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000179474
AA Change: R495C

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

SMART Domains

Protein: ENSMUSP00000137163
Gene: ENSMUSG00000044465
AA Change: R495C

Domain	Start	End	E-Value	Type
Pfam:RAI16-like	96	426	4.2e-98	PFAM
low complexity region	496	515	N/A	INTRINSIC
low complexity region	541	558	N/A	INTRINSIC
low complexity region	711	724	N/A	INTRINSIC
low complexity region	732	744	N/A	INTRINSIC
low complexity region	905	920	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000210448

Predicted Effect

probably benign
Transcript: ENSMUST00000211549

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

99% (86/87)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is part of the FTS/Hook/FHIP (FHF) complex, which can interact with members of the homotypic vesicular protein sorting (HOPS) complex. This interaction suggests that the encoded protein is involved in vesicle trafficking. [provided by RefSeq, Dec 2016]

Allele List at MGI

Other mutations in this stock

Total: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110051M20Rik	T	C	2: 91,444,594		probably benign	Het
1700113H08Rik	T	C	10: 87,121,435	V11A	probably benign	Het
Abca12	A	T	1: 71,274,634		probably null	Het
Abcc12	T	A	8: 86,507,939	M1232L	probably benign	Het
Adamts1	T	C	16: 85,800,229	Y314C	probably damaging	Het
Adgb	A	G	10: 10,378,659		probably null	Het
Ankrd12	T	A	17: 65,985,653	K928N	possibly damaging	Het
Ano5	A	T	7: 51,587,795	K789I	possibly damaging	Het
Cacna1d	G	T	14: 30,111,069	N938K	probably damaging	Het
Camk1g	T	C	1: 193,350,285	R273G	possibly damaging	Het
Caprin2	C	A	6: 148,843,030	V966F	probably damaging	Het
Card6	T	C	15: 5,099,472	H814R	probably benign	Het
Ccdc84	T	C	9: 44,412,918	Q228R	probably null	Het
Cflar	A	G	1: 58,711,581		probably benign	Het
Cftr	T	A	6: 18,204,205	N66K	probably benign	Het
Clasrp	C	T	7: 19,588,746		probably null	Het
Clec4a4	T	C	6: 122,990,380	I5T	probably damaging	Het
Cmtr2	T	C	8: 110,221,619	I187T	possibly damaging	Het
Cnga1	A	T	5: 72,604,273	F633I	possibly damaging	Het
Col16a1	C	T	4: 130,073,264	P909S	unknown	Het
Csf1	C	A	3: 107,760,045	A7S	possibly damaging	Het
Dhx30	A	T	9: 110,086,202	V833D	probably benign	Het
Dlg2	T	G	7: 92,431,055	I712M	probably benign	Het
Dmxl1	T	A	18: 49,878,315	F1180I	probably benign	Het
Dnah9	T	A	11: 66,005,805	K2398*	probably null	Het
Dus1l	C	T	11: 120,789,436	G471D	possibly damaging	Het
Dync1h1	A	T	12: 110,655,459	N3412I	possibly damaging	Het
Dync1i2	T	A	2: 71,250,834		probably null	Het
Dysf	T	C	6: 84,070,929	S333P	possibly damaging	Het
Eed	A	T	7: 89,956,333	N349K	probably benign	Het
Eipr1	A	T	12: 28,766,770		probably null	Het
Fbxw16	A	C	9: 109,448,154	V40G	probably damaging	Het
Fgfr4	A	C	13: 55,161,156	R363S	possibly damaging	Het
Fgl2	A	T	5: 21,373,231	N172I	possibly damaging	Het
Gabbr2	T	A	4: 46,875,744	H126L	possibly damaging	Het
Gcnt2	A	T	13: 40,860,862	N170Y	possibly damaging	Het
Gpt	A	G	15: 76,698,893		probably null	Het
Igsf10	A	G	3: 59,328,068	I1564T	probably benign	Het
Il22ra1	C	A	4: 135,750,796	Q393K	possibly damaging	Het
Inpp5d	A	T	1: 87,683,845	K340*	probably null	Het
Jcad	A	G	18: 4,673,113	K292E	probably damaging	Het
Krt5	T	A	15: 101,709,018	T427S	probably benign	Het
Krt76	T	C	15: 101,890,494	D252G	probably damaging	Het
Krtap26-1	A	G	16: 88,647,310	V141A	not run	Het
Lce6a	A	T	3: 92,620,335	V55D	probably benign	Het
Lpxn	C	T	19: 12,824,821	S170F	possibly damaging	Het
Magi2	T	C	5: 20,465,840	V394A	probably benign	Het
Mbnl1	G	A	3: 60,614,821		probably null	Het
Med16	T	A	10: 79,898,418	K554M	probably damaging	Het
Mettl14	T	C	3: 123,372,585	D276G	possibly damaging	Het
Mphosph9	T	C	5: 124,260,946	D1002G	probably damaging	Het
Mroh9	T	C	1: 163,039,109	E686G	probably damaging	Het
Nav1	T	C	1: 135,452,248	Y1512C	unknown	Het
Neb	T	C	2: 52,192,023	Y5712C	probably damaging	Het
Nek7	T	A	1: 138,561,771		probably benign	Het
Nptx1	T	A	11: 119,544,636	I285F	probably damaging	Het
Oas1d	G	T	5: 120,914,971	E30*	probably null	Het
Olfr404-ps1	A	T	11: 74,239,899	I112F	probably damaging	Het
Olfr429	C	A	1: 174,089,851	Y270*	probably null	Het
Olfr577	A	G	7: 102,973,110	V294A	possibly damaging	Het
Parp4	T	G	14: 56,635,748	S1150A	possibly damaging	Het
Pinx1	A	T	14: 63,919,292	K223*	probably null	Het
Plekha5	T	C	6: 140,583,914	L1034S	probably damaging	Het
Ppp4r3a	A	G	12: 101,053,496	V400A	possibly damaging	Het
Prtg	A	T	9: 72,842,697	I128F	possibly damaging	Het
Rars	T	C	11: 35,828,707	E96G	probably benign	Het
Rhpn1	T	A	15: 75,713,450	S551T	probably benign	Het
Selenow	C	T	7: 15,922,251		probably null	Het
Serpina9	A	T	12: 104,001,225		probably null	Het
Shank3	A	T	15: 89,548,880	D1276V	probably damaging	Het
Slc17a2	A	C	13: 23,819,334	H285P	probably damaging	Het
Slc27a6	A	G	18: 58,609,195	T494A	probably damaging	Het
Slc6a21	A	C	7: 45,282,936	T54P		Het
Syne2	A	G	12: 75,983,727		probably null	Het
Tal1	T	C	4: 115,068,292	V186A	probably benign	Het
Tarsl2	A	G	7: 65,652,261	K178E	probably benign	Het
Tex10	T	A	4: 48,459,984	I456L	probably benign	Het
Tfcp2	A	G	15: 100,522,429	F175S	probably damaging	Het
Timp2	C	T	11: 118,303,800	A188T	probably damaging	Het
Tmc5	T	A	7: 118,669,217	I836N	probably damaging	Het
Tmem100	T	A	11: 90,035,476	M43K	probably benign	Het
Ulk2	A	G	11: 61,854,552	Y9H	probably damaging	Het
Usp7	T	C	16: 8,705,163	K311E	probably damaging	Het
Vmn1r238	G	A	18: 3,123,033	T127I	probably benign	Het
Vmn2r28	T	C	7: 5,493,679	Y58C	probably damaging	Het
Wdr55	G	A	18: 36,760,416	G44S	probably benign	Het
Zfp677	C	A	17: 21,397,385	H235N	probably damaging	Het
Zfp869	T	A	8: 69,706,986	R312S	probably damaging	Het

Other mutations in Fam160a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00708:Fam160a2	APN	7	105388260	missense	probably damaging	1.00
IGL01972:Fam160a2	APN	7	105390145	missense	probably damaging	0.99
IGL02054:Fam160a2	APN	7	105384423	missense	probably damaging	1.00
IGL03037:Fam160a2	APN	7	105379086	missense	probably benign	0.04
IGL03278:Fam160a2	APN	7	105385124	missense	possibly damaging	0.93
IGL03340:Fam160a2	APN	7	105389310	missense	probably damaging	1.00
IGL03374:Fam160a2	APN	7	105383951	missense	probably damaging	1.00
R0426:Fam160a2	UTSW	7	105389473	missense	probably damaging	1.00
R0482:Fam160a2	UTSW	7	105384212	missense	possibly damaging	0.87
R0586:Fam160a2	UTSW	7	105389447	missense	probably damaging	1.00
R0686:Fam160a2	UTSW	7	105388309	missense	probably damaging	1.00
R1617:Fam160a2	UTSW	7	105385062	missense	probably damaging	1.00
R2025:Fam160a2	UTSW	7	105388936	missense	probably damaging	1.00
R2042:Fam160a2	UTSW	7	105384121	nonsense	probably null
R2049:Fam160a2	UTSW	7	105389839	missense	probably damaging	1.00
R2201:Fam160a2	UTSW	7	105388191	missense	probably damaging	1.00
R3778:Fam160a2	UTSW	7	105388228	missense	probably damaging	1.00
R4094:Fam160a2	UTSW	7	105388218	missense	probably damaging	1.00
R4348:Fam160a2	UTSW	7	105385349	missense	probably damaging	1.00
R4482:Fam160a2	UTSW	7	105389674	missense	probably benign	0.06
R4609:Fam160a2	UTSW	7	105388224	missense	probably damaging	1.00
R4742:Fam160a2	UTSW	7	105384311	missense	probably damaging	0.99
R4977:Fam160a2	UTSW	7	105389335	missense	probably damaging	1.00
R5642:Fam160a2	UTSW	7	105389882	missense	probably damaging	1.00
R6404:Fam160a2	UTSW	7	105384991	nonsense	probably null
R6906:Fam160a2	UTSW	7	105388269	missense	probably damaging	1.00
R7053:Fam160a2	UTSW	7	105384572	missense	probably damaging	1.00
R7265:Fam160a2	UTSW	7	105384225	missense	probably benign	0.00
R8246:Fam160a2	UTSW	7	105389660	missense	probably damaging	0.98
R8253:Fam160a2	UTSW	7	105379087	missense	possibly damaging	0.54
R8379:Fam160a2	UTSW	7	105385135	missense	possibly damaging	0.65
R8497:Fam160a2	UTSW	7	105381189	missense	probably damaging	1.00
R8919:Fam160a2	UTSW	7	105388270	missense	possibly damaging	0.48
R9093:Fam160a2	UTSW	7	105385392	missense	probably damaging	0.98
R9176:Fam160a2	UTSW	7	105381378	missense	probably benign	0.33
R9215:Fam160a2	UTSW	7	105385089	missense	possibly damaging	0.95
R9244:Fam160a2	UTSW	7	105389663	missense	possibly damaging	0.68
R9447:Fam160a2	UTSW	7	105384948	missense	probably benign
R9554:Fam160a2	UTSW	7	105389708	missense	probably damaging	0.98
X0022:Fam160a2	UTSW	7	105389709	nonsense	probably null
Z1190:Fam160a2	UTSW	7	105388321	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- AGGTAATTGTCTTCTAGCTCACC -3'
(R):5'- ATTTCATTCATGAAGGCGGTGAG -3'

Sequencing Primer
(F):5'- AGCTCACCAGGCTCCTCTG -3'
(R):5'- TTAGTCTAGAGATTGGAGAGTCACC -3'

Posted On

2019-11-26