Mutagenetix > Incidental Mutation

Incidental Mutation 'R1611:Fam120a'

176818

Institutional Source

Beutler Lab

Gene Symbol

Fam120a

Ensembl Gene

ENSMUSG00000038014

Gene Name

family with sequence similarity 120, member A

Synonyms

MMRRC Submission

039648-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1611 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

49032695-49121493 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 49039219 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 979 (A979E)

Ref Sequence

ENSEMBL: ENSMUSP00000053877 (fasta)

Gene Model

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

AlphaFold

Q6A0A9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000060805
AA Change: A979E

PolyPhen 2 Score 0.697 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000053877
Gene: ENSMUSG00000038014
AA Change: A979E

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

0.1795

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.2%
20x: 88.9%

Validation Efficiency

97% (75/77)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl6	A	T	11: 54,216,390 (GRCm39)	I186F	possibly damaging	Het
Actr6	T	A	10: 89,568,064 (GRCm39)	K14*	probably null	Het
Adgrv1	A	T	13: 81,707,236 (GRCm39)	V1390E	probably damaging	Het
Akap1	C	T	11: 88,736,104 (GRCm39)	R186K	probably benign	Het
Alg10b	T	A	15: 90,109,984 (GRCm39)	V99D	probably damaging	Het
Atp2c1	C	T	9: 105,320,051 (GRCm39)	G407S	probably damaging	Het
Atp9a	T	C	2: 168,515,489 (GRCm39)	M401V	probably damaging	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
Bclaf1	T	C	10: 20,198,998 (GRCm39)		probably benign	Het
Bcr	T	A	10: 74,961,034 (GRCm39)		probably null	Het
Bivm	T	C	1: 44,165,907 (GRCm39)	I119T	possibly damaging	Het
Cacna1h	A	G	17: 25,600,445 (GRCm39)	I1632T	probably damaging	Het
Capn9	G	A	8: 125,338,251 (GRCm39)	V537M	possibly damaging	Het
Cdk11b	G	A	4: 155,726,032 (GRCm39)		probably benign	Het
Cdk18	T	A	1: 132,050,113 (GRCm39)	I21F	probably damaging	Het
Cep85l	T	C	10: 53,224,777 (GRCm39)	T271A	probably benign	Het
Chrm5	T	C	2: 112,309,532 (GRCm39)	N528S	possibly damaging	Het
Cpsf6	T	A	10: 117,197,733 (GRCm39)		probably benign	Het
Cpt1c	T	C	7: 44,609,536 (GRCm39)	T689A	probably benign	Het
D030068K23Rik	T	C	8: 109,975,935 (GRCm39)	Y64C	unknown	Het
Ddb1	T	A	19: 10,604,128 (GRCm39)		probably null	Het
Ddb1	T	A	19: 10,590,252 (GRCm39)	C260S	probably damaging	Het
Depdc5	C	A	5: 33,148,297 (GRCm39)	Q1478K	probably damaging	Het
Diaph1	A	C	18: 38,033,755 (GRCm39)	M247R	unknown	Het
Dnai3	T	C	3: 145,801,113 (GRCm39)	Y115C	probably damaging	Het
Dusp8	T	C	7: 141,636,694 (GRCm39)	S299G	probably benign	Het
Erbb4	C	A	1: 68,079,547 (GRCm39)	G1178C	probably damaging	Het
Exoc7	A	T	11: 116,186,091 (GRCm39)	I370N	possibly damaging	Het
Gm12353	T	A	4: 19,631,843 (GRCm39)	Y27*	probably null	Het
Gnl1	C	T	17: 36,298,441 (GRCm39)	T395I	probably damaging	Het
Hpse2	G	A	19: 42,777,504 (GRCm39)	T554I	probably damaging	Het
Hsd17b11	T	C	5: 104,157,765 (GRCm39)	I116V	probably benign	Het
Inava	G	A	1: 136,143,855 (GRCm39)	P527L	probably damaging	Het
Kif24	A	T	4: 41,423,552 (GRCm39)	V233E	probably benign	Het
Klhl5	A	G	5: 65,321,992 (GRCm39)	T673A	probably benign	Het
Kmt2c	C	A	5: 25,564,309 (GRCm39)		probably null	Het
Lipg	T	C	18: 75,081,130 (GRCm39)	N317S	possibly damaging	Het
Lpin1	A	T	12: 16,627,219 (GRCm39)	L109Q	probably null	Het
Lyst	A	G	13: 13,809,482 (GRCm39)	E384G	probably damaging	Het
Mical2	T	A	7: 111,980,671 (GRCm39)	I105N	probably damaging	Het
Muc4	C	T	16: 32,569,804 (GRCm39)	T288I	possibly damaging	Het
Naa35	G	T	13: 59,776,747 (GRCm39)	R574L	probably benign	Het
Ncor2	T	C	5: 125,187,084 (GRCm39)		probably benign	Het
Nedd9	T	A	13: 41,470,406 (GRCm39)	D249V	probably benign	Het
Nsg1	T	A	5: 38,296,060 (GRCm39)	K38*	probably null	Het
Nup155	T	A	15: 8,159,644 (GRCm39)	D518E	probably damaging	Het
Or5i1	T	A	2: 87,612,968 (GRCm39)	I28N	probably benign	Het
Ovol1	T	A	19: 5,601,098 (GRCm39)	H231L	probably damaging	Het
Parg	A	G	14: 31,960,527 (GRCm39)	I586V	probably damaging	Het
Pde7b	T	C	10: 20,310,236 (GRCm39)	N242S	probably benign	Het
Pias3	T	A	3: 96,607,013 (GRCm39)		probably null	Het
Pramel13	A	T	4: 144,119,382 (GRCm39)	V395E	probably benign	Het
Ptprf	A	G	4: 118,093,430 (GRCm39)	V404A	probably benign	Het
Rigi	T	C	4: 40,223,862 (GRCm39)	Y339C	probably damaging	Het
Rnf145	T	C	11: 44,442,625 (GRCm39)	L259P	probably damaging	Het
Rps6ka5	C	G	12: 100,537,111 (GRCm39)	V540L	possibly damaging	Het
Ryr3	C	T	2: 112,483,850 (GRCm39)	D3966N	possibly damaging	Het
Samd9l	A	T	6: 3,373,771 (GRCm39)	S1163R	probably benign	Het
Serpinb9g	T	C	13: 33,676,857 (GRCm39)	I213T	possibly damaging	Het
Sil1	A	T	18: 35,402,141 (GRCm39)	V331E	possibly damaging	Het
Ski	A	G	4: 155,244,395 (GRCm39)	F410S	probably damaging	Het
Slc25a25	C	T	2: 32,310,391 (GRCm39)	E123K	probably damaging	Het
Slfnl1	A	G	4: 120,390,574 (GRCm39)	E75G	probably benign	Het
Sp1	T	A	15: 102,339,370 (GRCm39)	I436N	probably damaging	Het
Taf4b	A	T	18: 14,977,526 (GRCm39)	E766V	probably null	Het
Tgfbr1	A	G	4: 47,396,526 (GRCm39)	Y180C	probably damaging	Het
Ube4a	T	C	9: 44,868,035 (GRCm39)		probably benign	Het
Vmn2r1	T	A	3: 64,011,958 (GRCm39)	C606*	probably null	Het
Zfp341	C	A	2: 154,487,623 (GRCm39)	H702Q	probably damaging	Het

Other mutations in Fam120a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00785:Fam120a	APN	13	49,042,609 (GRCm39)	missense	probably benign
IGL01087:Fam120a	APN	13	49,055,549 (GRCm39)	missense	probably damaging	1.00
IGL02052:Fam120a	APN	13	49,087,421 (GRCm39)	splice site	probably benign
IGL02409:Fam120a	APN	13	49,120,835 (GRCm39)	missense	probably benign	0.05
IGL03172:Fam120a	APN	13	49,063,812 (GRCm39)	missense	probably damaging	1.00
bumped	UTSW	13	49,045,497 (GRCm39)	missense	probably benign	0.07
Green_flash	UTSW	13	49,045,440 (GRCm39)	missense	probably damaging	1.00
Martini	UTSW	13	49,121,114 (GRCm39)	missense	probably damaging	1.00
Sunset	UTSW	13	49,063,726 (GRCm39)	splice site	probably null
upended	UTSW	13	49,051,143 (GRCm39)	missense	probably damaging	1.00
R0036:Fam120a	UTSW	13	49,042,740 (GRCm39)	splice site	probably benign
R0042:Fam120a	UTSW	13	49,087,490 (GRCm39)	missense	probably damaging	1.00
R0689:Fam120a	UTSW	13	49,121,114 (GRCm39)	missense	probably damaging	1.00
R0741:Fam120a	UTSW	13	49,045,416 (GRCm39)	missense	possibly damaging	0.91
R0899:Fam120a	UTSW	13	49,039,219 (GRCm39)	missense	possibly damaging	0.70
R0900:Fam120a	UTSW	13	49,039,219 (GRCm39)	missense	possibly damaging	0.70
R0987:Fam120a	UTSW	13	49,039,219 (GRCm39)	missense	possibly damaging	0.70
R0989:Fam120a	UTSW	13	49,039,219 (GRCm39)	missense	possibly damaging	0.70
R0990:Fam120a	UTSW	13	49,039,219 (GRCm39)	missense	possibly damaging	0.70
R1080:Fam120a	UTSW	13	49,039,219 (GRCm39)	missense	possibly damaging	0.70
R1121:Fam120a	UTSW	13	49,063,913 (GRCm39)	splice site	probably null
R1265:Fam120a	UTSW	13	49,039,219 (GRCm39)	missense	possibly damaging	0.70
R1423:Fam120a	UTSW	13	49,039,219 (GRCm39)	missense	possibly damaging	0.70
R1755:Fam120a	UTSW	13	49,039,219 (GRCm39)	missense	possibly damaging	0.70
R1888:Fam120a	UTSW	13	49,039,342 (GRCm39)	missense	possibly damaging	0.50
R1888:Fam120a	UTSW	13	49,039,342 (GRCm39)	missense	possibly damaging	0.50
R2041:Fam120a	UTSW	13	49,051,243 (GRCm39)	missense	probably benign	0.01
R2433:Fam120a	UTSW	13	49,087,444 (GRCm39)	missense	probably damaging	1.00
R2496:Fam120a	UTSW	13	49,121,069 (GRCm39)	missense	probably damaging	0.99
R3122:Fam120a	UTSW	13	49,045,562 (GRCm39)	missense	possibly damaging	0.45
R4279:Fam120a	UTSW	13	49,042,734 (GRCm39)	missense	probably benign	0.00
R4758:Fam120a	UTSW	13	49,034,333 (GRCm39)	missense	probably benign	0.02
R4924:Fam120a	UTSW	13	49,055,572 (GRCm39)	missense	probably benign	0.04
R5000:Fam120a	UTSW	13	49,051,143 (GRCm39)	missense	probably damaging	1.00
R5039:Fam120a	UTSW	13	49,063,726 (GRCm39)	splice site	probably null
R5194:Fam120a	UTSW	13	49,034,411 (GRCm39)	missense	probably benign
R5772:Fam120a	UTSW	13	49,034,409 (GRCm39)	missense	probably benign
R6765:Fam120a	UTSW	13	49,045,440 (GRCm39)	missense	probably damaging	1.00
R6820:Fam120a	UTSW	13	49,034,468 (GRCm39)	missense	possibly damaging	0.51
R6833:Fam120a	UTSW	13	49,087,517 (GRCm39)	missense	probably damaging	1.00
R6895:Fam120a	UTSW	13	49,045,497 (GRCm39)	missense	probably benign	0.07
R6946:Fam120a	UTSW	13	49,034,496 (GRCm39)	missense	possibly damaging	0.83
R7032:Fam120a	UTSW	13	49,102,589 (GRCm39)	missense	probably benign	0.34
R7081:Fam120a	UTSW	13	49,063,801 (GRCm39)	missense	probably damaging	0.98
R7289:Fam120a	UTSW	13	49,045,482 (GRCm39)	missense	probably damaging	1.00
R7503:Fam120a	UTSW	13	49,102,723 (GRCm39)	missense	probably benign	0.00
R7978:Fam120a	UTSW	13	49,055,750 (GRCm39)	missense	probably damaging	1.00
R8200:Fam120a	UTSW	13	49,102,595 (GRCm39)	missense	probably damaging	0.97
R8311:Fam120a	UTSW	13	49,087,433 (GRCm39)	missense	possibly damaging	0.84
X0003:Fam120a	UTSW	13	49,102,614 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGAGTGGAAATAACACCCCTTGGAC -3'
(R):5'- CAATTGCATGGTGTGCTCAGAGAAC -3'

Sequencing Primer
(F):5'- GGTTCATACCCAAGGCATTTGAC -3'
(R):5'- tcttttttgttgttgttgtttgtttg -3'

Posted On

2014-04-24