Mutagenetix > Incidental Mutations

Incidental Mutation 'R1623:Fam181a'

174817

Institutional Source

Beutler Lab

Gene Symbol

Fam181a

Ensembl Gene

ENSMUSG00000096753

Gene Name

family with sequence similarity 181, member A

Synonyms

EG544888

MMRRC Submission

039660-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

R1623 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

103310975-103317065 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 103316332 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 165 (Y165*)

Ref Sequence

ENSEMBL: ENSMUSP00000140842 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021617] [ENSMUST00000149431] [ENSMUST00000179363] [ENSMUST00000189885] [ENSMUST00000191218]

Predicted Effect

probably benign
Transcript: ENSMUST00000021617

SMART Domains

Protein: ENSMUSP00000021617
Gene: ENSMUSG00000021200

Domain	Start	End	E-Value	Type
UIM	26	45	1.02e0	SMART
ANK	104	133	1.81e2	SMART
ANK	137	167	5.45e-2	SMART
ANK	171	200	5.45e-2	SMART
ANK	204	233	2.21e-2	SMART
ANK	237	266	9.13e-4	SMART
ANK	270	299	7.42e-4	SMART
ANK	303	332	1.19e-2	SMART
ANK	336	365	5.67e0	SMART
ANK	368	397	6.02e-4	SMART
ANK	410	439	3.54e-1	SMART
ANK	440	469	6.81e-3	SMART
SOCS_box	592	631	2.51e-11	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127447

Predicted Effect

probably benign
Transcript: ENSMUST00000149431

SMART Domains

Protein: ENSMUSP00000117595
Gene: ENSMUSG00000021200

Domain	Start	End	E-Value	Type
low complexity region	15	34	N/A	INTRINSIC
ANK	56	85	1.81e2	SMART
ANK	89	119	5.45e-2	SMART
ANK	123	152	5.45e-2	SMART
ANK	156	185	2.21e-2	SMART
ANK	189	218	9.13e-4	SMART
ANK	222	251	7.42e-4	SMART
ANK	255	284	1.19e-2	SMART
ANK	288	317	5.67e0	SMART
ANK	320	349	6.02e-4	SMART
ANK	362	391	3.54e-1	SMART
ANK	392	421	6.81e-3	SMART
SOCS_box	544	583	2.51e-11	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000179363
AA Change: Y165*

SMART Domains

Protein: ENSMUSP00000136681
Gene: ENSMUSG00000096753
AA Change: Y165*

Domain	Start	End	E-Value	Type
Pfam:FAM181	1	280	9.5e-116	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000189885

SMART Domains

Protein: ENSMUSP00000139607
Gene: ENSMUSG00000096753

Domain	Start	End	E-Value	Type
Pfam:FAM181	1	159	6e-60	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189971

Predicted Effect

probably null
Transcript: ENSMUST00000191218
AA Change: Y165*

SMART Domains

Protein: ENSMUSP00000140842
Gene: ENSMUSG00000096753
AA Change: Y165*

Domain	Start	End	E-Value	Type
Pfam:FAM181	1	280	6.7e-87	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191414

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 94.9%
20x: 87.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930017K11Rik	G	A	17: 25,947,534	P343L	probably benign	Het
Acbd5	A	T	2: 23,094,344	D294V	probably damaging	Het
Actn2	A	T	13: 12,340,439	I21N	probably benign	Het
Adamts2	C	A	11: 50,668,115	P219H	possibly damaging	Het
Atg16l2	A	G	7: 101,289,906	F584L	probably benign	Het
Ccdc81	C	T	7: 89,886,182	R282Q	probably benign	Het
Cd200r3	G	A	16: 44,951,448	C25Y	possibly damaging	Het
Cdkl4	C	T	17: 80,556,302		probably null	Het
Chrne	T	C	11: 70,618,428	E109G	possibly damaging	Het
Clmp	A	G	9: 40,782,560	T358A	probably benign	Het
Cmtr1	G	T	17: 29,687,047		probably null	Het
Col25a1	A	G	3: 130,550,050	E389G	probably damaging	Het
Ctc1	C	T	11: 69,021,142	T49M	probably damaging	Het
Cyth3	T	A	5: 143,701,372	M120K	probably damaging	Het
D430041D05Rik	T	A	2: 104,152,963	E1996V	probably damaging	Het
Dnah9	T	C	11: 66,037,637	M2069V	probably damaging	Het
Dsg1c	T	C	18: 20,275,177	Y428H	probably damaging	Het
Exosc8	T	A	3: 54,734,331	T7S	probably damaging	Het
F5	A	G	1: 164,195,622	Y1583C	probably damaging	Het
Fam178b	A	G	1: 36,644,324	I105T	probably damaging	Het
Fam212b	G	A	3: 105,716,820	G151D	probably damaging	Het
Fbn2	G	T	18: 58,048,548	N1880K	possibly damaging	Het
Gbgt1	A	T	2: 28,504,976	M209L	probably benign	Het
Gkn2	C	A	6: 87,378,170	Y120*	probably null	Het
Gm14295	T	A	2: 176,807,364	D1E	probably damaging	Het
Gpr141	A	T	13: 19,751,912		probably null	Het
Gramd3	C	A	18: 56,432,351	P26Q	probably benign	Het
Greb1	A	G	12: 16,674,770	I1801T	probably damaging	Het
Gstm3	T	A	3: 107,967,835	I64F	possibly damaging	Het
Gtse1	A	G	15: 85,867,578	Y324C	probably benign	Het
Hal	C	G	10: 93,516,297	T650R	probably benign	Het
Hdac7	G	A	15: 97,808,404	Q293*	probably null	Het
Hdlbp	A	T	1: 93,423,869	N437K	probably damaging	Het
Hif1an	A	G	19: 44,569,423	D248G	probably damaging	Het
Hivep3	T	C	4: 120,095,704	S406P	possibly damaging	Het
Hmcn2	A	T	2: 31,458,039	D4899V	possibly damaging	Het
Ikzf3	C	T	11: 98,490,331		probably null	Het
Itgb4	C	A	11: 115,991,316	Y819*	probably null	Het
Itpripl1	T	C	2: 127,141,635	D189G	possibly damaging	Het
Kmt2e	A	G	5: 23,482,502	Y450C	probably damaging	Het
Mc4r	A	G	18: 66,859,997	L15P	probably benign	Het
Mical1	T	G	10: 41,481,393		probably null	Het
Mical3	C	T	6: 121,024,807	V575M	probably damaging	Het
Mki67	A	T	7: 135,708,818		probably null	Het
Mocs2	G	A	13: 114,824,622	E52K	probably benign	Het
Myo7b	T	C	18: 32,000,051	N415S	probably damaging	Het
Notch1	G	A	2: 26,478,612	T555I	possibly damaging	Het
Notch3	T	C	17: 32,139,191	D1686G	probably benign	Het
Oit3	A	G	10: 59,428,239	F358L	probably damaging	Het
Olfr417	A	C	1: 174,368,949	I11L	probably benign	Het
Olfr424	A	T	1: 174,137,317	D191V	probably damaging	Het
Orai1	T	A	5: 123,029,202	I146N	probably damaging	Het
Pck1	A	G	2: 173,154,718	I142V	probably benign	Het
Pdap1	C	T	5: 145,132,929	V89M	possibly damaging	Het
Phf11a	T	C	14: 59,287,551	D68G	possibly damaging	Het
Pilrb2	T	C	5: 137,871,248	N30S	probably damaging	Het
Pkd1	G	A	17: 24,578,269	V2551I	probably damaging	Het
Pnpla7	T	C	2: 25,052,599	V132A	probably damaging	Het
Rad18	C	T	6: 112,628,519	S398N	probably damaging	Het
Rdh16f1	C	A	10: 127,790,853	N258K	probably benign	Het
Riox2	A	G	16: 59,483,042	H240R	probably damaging	Het
Ruvbl1	C	T	6: 88,485,770	A292V	probably damaging	Het
Ryr1	C	T	7: 29,095,490	G1151S	probably damaging	Het
Serpinb9b	T	C	13: 33,029,565	I35T	possibly damaging	Het
Slc1a1	T	A	19: 28,904,722	M328K	probably benign	Het
Slc7a13	A	T	4: 19,824,031	T267S	possibly damaging	Het
Speer3	G	T	5: 13,796,321	M218I	probably benign	Het
Sptan1	A	G	2: 29,986,420	I271V	probably damaging	Het
Swap70	A	G	7: 110,264,048	T195A	probably benign	Het
Tgs1	T	A	4: 3,585,964	N280K	probably benign	Het
Tonsl	A	G	15: 76,638,509	C181R	probably damaging	Het
Trdn	A	G	10: 33,258,102	K333R	possibly damaging	Het
Trpc4	T	A	3: 54,299,179	M600K	probably damaging	Het
Ubr3	C	T	2: 69,977,723	Q1183*	probably null	Het
Ubxn4	T	A	1: 128,272,851	L360I	possibly damaging	Het
Ugt2b1	T	A	5: 86,926,408	T31S	probably benign	Het
Uspl1	T	C	5: 149,215,199	S1056P	probably damaging	Het
Vmn2r60	A	T	7: 42,135,855	K164*	probably null	Het
Vwce	T	A	19: 10,646,744	L333*	probably null	Het
Wdr95	T	A	5: 149,574,116	L253Q	probably damaging	Het
Wisp1	G	T	15: 66,891,599	V12L	possibly damaging	Het
Zfp113	T	C	5: 138,145,668	M107V	probably benign	Het
Zfp142	T	C	1: 74,571,775	T851A	possibly damaging	Het

Other mutations in Fam181a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R2164:Fam181a	UTSW	12	103316526	missense	probably benign
R3237:Fam181a	UTSW	12	103316089	missense	possibly damaging	0.95
R4208:Fam181a	UTSW	12	103315914	missense	probably damaging	1.00
R5238:Fam181a	UTSW	12	103316133	missense	probably benign	0.19
R5468:Fam181a	UTSW	12	103316678	missense	probably benign
R6268:Fam181a	UTSW	12	103316544	missense	possibly damaging	0.77
R6957:Fam181a	UTSW	12	103316514	missense	probably damaging	0.97
R7100:Fam181a	UTSW	12	103315873	missense	probably damaging	1.00
R7614:Fam181a	UTSW	12	103316546	missense	probably damaging	1.00
R8075:Fam181a	UTSW	12	103316037	missense	possibly damaging	0.60

Predicted Primers

PCR Primer
(F):5'- TCTGTGGACCATCGCAAGTACCTG -3'
(R):5'- AAAGGGCAGTAGCTCCAAGCATC -3'

Sequencing Primer
(F):5'- ACCCCCTTTAGGGAGGAATG -3'
(R):5'- AGCATCCAGGCTGCCTAC -3'

Posted On

2014-04-24