Mutagenetix > Incidental Mutations

Incidental Mutation 'R5039:Fam120a'

395722

Institutional Source

Beutler Lab

Gene Symbol

Fam120a

Ensembl Gene

ENSMUSG00000038014

Gene Name

family with sequence similarity 120, member A

Synonyms

MMRRC Submission

042629-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5039 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

48879219-48968017 bp(-) (GRCm38)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

A to T at 48910250 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000053877 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060805] [ENSMUST00000060805]

Predicted Effect

probably null
Transcript: ENSMUST00000060805

SMART Domains

Protein: ENSMUSP00000053877
Gene: ENSMUSG00000038014

Domain	Start	End	E-Value	Type
Blast:XPGN	1	112	1e-15	BLAST
low complexity region	348	361	N/A	INTRINSIC
low complexity region	453	468	N/A	INTRINSIC
low complexity region	852	866	N/A	INTRINSIC
low complexity region	881	897	N/A	INTRINSIC
low complexity region	959	966	N/A	INTRINSIC
low complexity region	972	986	N/A	INTRINSIC
low complexity region	996	1006	N/A	INTRINSIC
low complexity region	1026	1044	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000060805

SMART Domains

Protein: ENSMUSP00000053877
Gene: ENSMUSG00000038014

Domain	Start	End	E-Value	Type
Blast:XPGN	1	112	1e-15	BLAST
low complexity region	348	361	N/A	INTRINSIC
low complexity region	453	468	N/A	INTRINSIC
low complexity region	852	866	N/A	INTRINSIC
low complexity region	881	897	N/A	INTRINSIC
low complexity region	959	966	N/A	INTRINSIC
low complexity region	972	986	N/A	INTRINSIC
low complexity region	996	1006	N/A	INTRINSIC
low complexity region	1026	1044	N/A	INTRINSIC

Meta Mutation Damage Score

0.8461

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

100% (61/61)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921501E09Rik	A	C	17: 33,067,760	C23G	probably damaging	Het
Abcg4	G	A	9: 44,281,566	A161V	probably damaging	Het
Anapc2	T	C	2: 25,274,796	I64T	possibly damaging	Het
Arfgef1	T	C	1: 10,199,736	D396G	probably benign	Het
Axl	C	T	7: 25,785,915	V163M	probably damaging	Het
Blm	G	A	7: 80,505,873	P353S	possibly damaging	Het
Btaf1	T	C	19: 36,990,762	Y1116H	probably benign	Het
Ccdc18	T	A	5: 108,158,648		probably null	Het
Ccdc87	T	C	19: 4,840,401		probably null	Het
Cdhr1	T	C	14: 37,079,643	N781S	probably benign	Het
Ctr9	C	A	7: 111,042,857	H297Q	probably benign	Het
Cyp2c55	A	G	19: 39,038,143	D398G	probably benign	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Het
Dnmt3l	T	C	10: 78,052,900		probably null	Het
Dock4	C	A	12: 40,817,746	N1440K	probably damaging	Het
Etnk1	T	A	6: 143,195,317		probably null	Het
Fanca	T	C	8: 123,284,046	D908G	probably benign	Het
Gm17535	T	A	9: 3,035,786	L218H	probably benign	Het
Gm3633	A	C	14: 42,639,204	N42K	possibly damaging	Het
Gm4781	C	A	10: 100,396,989		noncoding transcript	Het
Gm8741	G	T	17: 35,336,086		noncoding transcript	Het
Gpr139	A	G	7: 119,144,942	V140A	probably benign	Het
Ighv1-62-3	G	T	12: 115,461,394	T13K	probably benign	Het
Itgb2l	T	C	16: 96,425,005	T629A	possibly damaging	Het
Kcnb2	T	C	1: 15,709,500	S199P	probably damaging	Het
Kdm1b	G	A	13: 47,077,486	G663D	probably damaging	Het
Lama1	A	G	17: 67,745,893	D407G	possibly damaging	Het
Macf1	T	C	4: 123,511,220	K391R	probably damaging	Het
Magi3	A	T	3: 104,105,791	S127T	probably damaging	Het
Map2	A	T	1: 66,438,796	D1759V	probably damaging	Het
Mllt6	G	A	11: 97,669,500	S210N	possibly damaging	Het
Myrfl	T	C	10: 116,822,711	D447G	probably damaging	Het
Ndufb7	A	G	8: 83,571,465		probably benign	Het
Nt5e	T	A	9: 88,363,581	N301K	probably benign	Het
Olfr944	T	A	9: 39,218,114	Y252*	probably null	Het
Olfr960	A	T	9: 39,623,560	T146S	possibly damaging	Het
Pcdh10	A	G	3: 45,381,861	N870S	probably damaging	Het
Pcdh18	A	G	3: 49,754,856	V670A	probably benign	Het
Polr1c	G	T	17: 46,247,709		probably benign	Het
Ric3	G	C	7: 109,038,723	S274R	probably benign	Het
Rimbp3	A	G	16: 17,213,331	T1540A	probably damaging	Het
Rnf165	A	G	18: 77,462,912	S107P	probably damaging	Het
Rp1l1	A	T	14: 64,031,356	M1464L	probably benign	Het
Slc41a3	A	G	6: 90,626,417	Y140C	probably damaging	Het
Ssb	A	T	2: 69,866,237	E38D	possibly damaging	Het
Syt14	A	T	1: 193,026,984	I16N	probably damaging	Het
Tet3	T	C	6: 83,375,896	T973A	probably damaging	Het
Tial1	T	C	7: 128,443,968		probably benign	Het
Tnfrsf1a	A	G	6: 125,360,712	T89A	possibly damaging	Het
Trpv5	T	C	6: 41,675,945	Y98C	possibly damaging	Het
Ylpm1	T	A	12: 85,015,493	S265T	probably damaging	Het
Ylpm1	A	G	12: 85,042,239	D1006G	probably damaging	Het

Other mutations in Fam120a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00785:Fam120a	APN	13	48889133	missense	probably benign
IGL01087:Fam120a	APN	13	48902073	missense	probably damaging	1.00
IGL02052:Fam120a	APN	13	48933945	splice site	probably benign
IGL02409:Fam120a	APN	13	48967359	missense	probably benign	0.05
IGL03172:Fam120a	APN	13	48910336	missense	probably damaging	1.00
bumped	UTSW	13	48892021	missense	probably benign	0.07
Green_flash	UTSW	13	48891964	missense	probably damaging	1.00
Sunset	UTSW	13	48910250	splice site	probably null
upended	UTSW	13	48897667	missense	probably damaging	1.00
R0036:Fam120a	UTSW	13	48889264	splice site	probably benign
R0042:Fam120a	UTSW	13	48934014	missense	probably damaging	1.00
R0689:Fam120a	UTSW	13	48967638	missense	probably damaging	1.00
R0741:Fam120a	UTSW	13	48891940	missense	possibly damaging	0.91
R0899:Fam120a	UTSW	13	48885743	missense	possibly damaging	0.70
R0900:Fam120a	UTSW	13	48885743	missense	possibly damaging	0.70
R0987:Fam120a	UTSW	13	48885743	missense	possibly damaging	0.70
R0989:Fam120a	UTSW	13	48885743	missense	possibly damaging	0.70
R0990:Fam120a	UTSW	13	48885743	missense	possibly damaging	0.70
R1080:Fam120a	UTSW	13	48885743	missense	possibly damaging	0.70
R1121:Fam120a	UTSW	13	48910437	splice site	probably null
R1265:Fam120a	UTSW	13	48885743	missense	possibly damaging	0.70
R1423:Fam120a	UTSW	13	48885743	missense	possibly damaging	0.70
R1611:Fam120a	UTSW	13	48885743	missense	possibly damaging	0.70
R1755:Fam120a	UTSW	13	48885743	missense	possibly damaging	0.70
R1888:Fam120a	UTSW	13	48885866	missense	possibly damaging	0.50
R1888:Fam120a	UTSW	13	48885866	missense	possibly damaging	0.50
R2041:Fam120a	UTSW	13	48897767	missense	probably benign	0.01
R2433:Fam120a	UTSW	13	48933968	missense	probably damaging	1.00
R2496:Fam120a	UTSW	13	48967593	missense	probably damaging	0.99
R3122:Fam120a	UTSW	13	48892086	missense	possibly damaging	0.45
R4279:Fam120a	UTSW	13	48889258	missense	probably benign	0.00
R4758:Fam120a	UTSW	13	48880857	missense	probably benign	0.02
R4924:Fam120a	UTSW	13	48902096	missense	probably benign	0.04
R5000:Fam120a	UTSW	13	48897667	missense	probably damaging	1.00
R5194:Fam120a	UTSW	13	48880935	missense	probably benign
R5772:Fam120a	UTSW	13	48880933	missense	probably benign
R6765:Fam120a	UTSW	13	48891964	missense	probably damaging	1.00
R6820:Fam120a	UTSW	13	48880992	missense	possibly damaging	0.51
R6833:Fam120a	UTSW	13	48934041	missense	probably damaging	1.00
R6895:Fam120a	UTSW	13	48892021	missense	probably benign	0.07
R6946:Fam120a	UTSW	13	48881020	missense	possibly damaging	0.83
R7032:Fam120a	UTSW	13	48949113	missense	probably benign	0.34
R7081:Fam120a	UTSW	13	48910325	missense	probably damaging	0.98
R7289:Fam120a	UTSW	13	48892006	missense	probably damaging	1.00
R7503:Fam120a	UTSW	13	48949247	missense	probably benign	0.00
R7978:Fam120a	UTSW	13	48902274	missense	probably damaging	1.00
R8200:Fam120a	UTSW	13	48949119	missense	probably damaging	0.97
R8311:Fam120a	UTSW	13	48933957	missense	possibly damaging	0.84
X0003:Fam120a	UTSW	13	48949138	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGTATGGCTTCTCCTGTTCTG -3'
(R):5'- AGGCAAGTTGTTAAGCCATTGG -3'

Sequencing Primer
(F):5'- CTGTTCTGAGGGCTCGATCC -3'
(R):5'- CTTCCATGCAAAGGGTGAAATC -3'

Posted On

2016-06-21