Mutagenetix > Incidental Mutations

Incidental Mutation 'R4609:Fam160a2'

344513

Institutional Source

Beutler Lab

Gene Symbol

Fam160a2

Ensembl Gene

ENSMUSG00000044465

Gene Name

family with sequence similarity 160, member A2

Synonyms

4632419K20Rik, 6530415H11Rik

MMRRC Submission

041820-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4609 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

105371211-105400054 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 105388224 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 384 (I384T)

Ref Sequence

ENSEMBL: ENSMUSP00000137163 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000048079
AA Change: I384T

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000045084
Gene: ENSMUSG00000044465
AA Change: I384T

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: I384T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000074252
Gene: ENSMUSG00000044465
AA Change: I384T

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: I384T

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

SMART Domains

Protein: ENSMUSP00000112605
Gene: ENSMUSG00000044465
AA Change: I384T

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: I384T

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

SMART Domains

Protein: ENSMUSP00000112711
Gene: ENSMUSG00000044465
AA Change: I384T

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

noncoding transcript
Transcript: ENSMUST00000136298

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: I384T

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

SMART Domains

Protein: ENSMUSP00000137163
Gene: ENSMUSG00000044465
AA Change: I384T

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

noncoding transcript
Transcript: ENSMUST00000210341

Predicted Effect

probably benign
Transcript: ENSMUST00000210448

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211013

Predicted Effect

probably benign
Transcript: ENSMUST00000211549

Meta Mutation Damage Score

0.8639

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

99% (78/79)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
7530416G11Rik	T	C	15: 85,494,169	D91G	unknown	Het
Adam10	T	C	9: 70,740,143	Y42H	probably damaging	Het
Baiap3	A	T	17: 25,250,261	C183S	probably damaging	Het
Bbs10	A	G	10: 111,301,134	K703E	probably benign	Het
Bmp1	C	T	14: 70,477,966	V910M	probably benign	Het
Brdt	G	A	5: 107,359,936	A677T	probably benign	Het
Cadps2	A	T	6: 23,587,579	M304K	probably damaging	Het
Car9	A	T	4: 43,507,267	D71V	possibly damaging	Het
Chml	A	T	1: 175,687,157	Y399*	probably null	Het
Clasp1	A	G	1: 118,503,035		probably benign	Het
Cntnap5b	G	A	1: 99,772,847		probably null	Het
Cpvl	A	T	6: 53,974,620		probably null	Het
Crocc2	G	A	1: 93,168,794	V24M	possibly damaging	Het
Cxcl16	T	C	11: 70,455,429	Y226C	probably damaging	Het
Dio3	G	T	12: 110,280,010	R260L	probably damaging	Het
Dmxl2	A	G	9: 54,446,512	L724P	probably damaging	Het
Dnah7a	A	C	1: 53,456,657	F3214V	possibly damaging	Het
Dpy19l4	A	T	4: 11,295,999	Y223*	probably null	Het
Dpysl4	T	C	7: 139,098,621	V499A	probably damaging	Het
Ets2	A	T	16: 95,711,774	K101N	probably benign	Het
Fbn2	A	T	18: 58,190,269	Y200*	probably null	Het
Fem1c	A	T	18: 46,505,948	I329N	probably damaging	Het
Gm8919	T	C	3: 11,659,470		noncoding transcript	Het
H2-Q5	A	T	17: 35,397,080	H206L	probably benign	Het
Hexa	T	C	9: 59,557,319	F164S	probably benign	Het
Hk1	G	T	10: 62,358,415		probably benign	Het
Ick	T	A	9: 78,167,789		probably benign	Het
Itih4	G	A	14: 30,901,669	G915R	probably damaging	Het
Kcnq5	A	T	1: 21,405,068		probably null	Het
Krtap10-4	A	T	10: 77,826,796		probably benign	Het
Maml3	G	T	3: 51,855,592	H650Q	probably damaging	Het
Mief1	C	A	15: 80,248,253	P112Q	probably benign	Het
Morc3	A	G	16: 93,864,968	E472G	probably benign	Het
Nap1l1	T	A	10: 111,492,880	Y223*	probably null	Het
Nfix	A	T	8: 84,726,490	W312R	probably damaging	Het
Nfkbie	A	T	17: 45,558,584	N155I	probably damaging	Het
Nlgn2	A	T	11: 69,834,086	M118K	probably damaging	Het
Nlrp5	A	T	7: 23,417,748	Y299F	probably benign	Het
Nnt	T	C	13: 119,357,536	I556V	possibly damaging	Het
Oasl2	A	T	5: 114,899,796	I85F	possibly damaging	Het
Ogg1	A	C	6: 113,328,432	T69P	probably damaging	Het
Olfml2a	G	T	2: 38,957,721	V431L	probably damaging	Het
Olfr507	A	T	7: 108,622,504	M231L	probably benign	Het
Olfr984	T	C	9: 40,100,806	H228R	possibly damaging	Het
Palb2	G	T	7: 122,124,723	A601E	probably benign	Het
Pcdhb20	G	A	18: 37,505,796	M458I	probably benign	Het
Pde11a	T	C	2: 76,291,241	D332G	possibly damaging	Het
Pkd1l1	C	T	11: 8,958,964	E347K	unknown	Het
Pou2af1	G	A	9: 51,238,225	V206I	possibly damaging	Het
Prr16	A	G	18: 51,118,067	D46G	possibly damaging	Het
Pus1	A	G	5: 110,780,318	M1T	probably null	Het
Pygm	T	A	19: 6,391,409	V566D	possibly damaging	Het
Rb1	T	A	14: 73,262,514		probably benign	Het
Rhoj	A	T	12: 75,400,206	K200*	probably null	Het
Rnf213	A	G	11: 119,437,695	I1985V	possibly damaging	Het
Sept11	G	T	5: 93,162,254	M305I	possibly damaging	Het
Setdb2	T	C	14: 59,415,704	Y383C	probably damaging	Het
Sfpq	G	C	4: 127,021,611	Q65H	unknown	Het
Stard3nl	G	T	13: 19,370,264	A180E	probably damaging	Het
Tanc2	A	G	11: 105,910,240	N1094S	probably benign	Het
Trf	C	T	9: 103,211,985	A554T	possibly damaging	Het
Trmt13	T	C	3: 116,594,827		probably benign	Het
Tubb3	A	G	8: 123,420,919	D197G	probably damaging	Het
Ube2e3	A	G	2: 78,918,712	H135R	probably damaging	Het
Ugt1a10	A	T	1: 88,055,482	M1L	possibly damaging	Het
Vmn1r233	A	T	17: 20,994,415	I91N	possibly damaging	Het
Vmn2r88	A	T	14: 51,418,074	D580V	probably damaging	Het
Vps33b	A	G	7: 80,291,118	Y593C	probably benign	Het
Wdr19	A	G	5: 65,228,542	T622A	possibly damaging	Het
Wdr3	C	T	3: 100,140,200	R853Q	probably damaging	Het
Wdr61	A	G	9: 54,728,179	V46A	probably benign	Het
Xirp1	T	C	9: 120,016,506	T1104A	probably benign	Het
Yipf1	G	A	4: 107,344,683		probably null	Het
Zbtb17	A	G	4: 141,466,498	D651G	probably damaging	Het
Zbtb42	C	T	12: 112,680,542	R384W	probably damaging	Het
Zbtb43	A	T	2: 33,454,043	M390K	probably benign	Het
Zfp462	C	T	4: 55,011,889	T1285M	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
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
R7808:Fam160a2	UTSW	7	105384525	missense	probably damaging	1.00
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
X0022:Fam160a2	UTSW	7	105389709	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ATAGTGCCAGCTTGAAGTGAC -3'
(R):5'- TGGTCGACCAGTGAAAGGAC -3'

Sequencing Primer
(F):5'- CCAGCTTGAAGTGACTGCAG -3'
(R):5'- TCGACCAGTGAAAGGACTTATATG -3'

Posted On

2015-09-25