Mutagenetix > Incidental Mutation

Incidental Mutation 'R0990:Fam120a'

97658

Institutional Source

Beutler Lab

Gene Symbol

Fam120a

Ensembl Gene

ENSMUSG00000038014

Gene Name

family with sequence similarity 120, member A

Synonyms

MMRRC Submission

039110-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0990 (G1)

Quality Score

117

Status

Not 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: 98.8%
3x: 97.6%
10x: 94.1%
20x: 86.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy7	T	C	8: 89,052,080 (GRCm39)	V916A	possibly damaging	Het
Ank2	T	C	3: 126,728,315 (GRCm39)	I759M	possibly damaging	Het
Arhgap32	A	G	9: 32,166,677 (GRCm39)	D438G	probably damaging	Het
Arhgef12	T	C	9: 42,883,677 (GRCm39)	Y1285C	probably benign	Het
Cfap65	A	G	1: 74,960,678 (GRCm39)	V764A	possibly damaging	Het
Cog8	T	A	8: 107,779,119 (GRCm39)		probably null	Het
Extl1	TGCGTTGCACCGATACCGGG	TG	4: 134,084,988 (GRCm39)		probably benign	Het
Fbxo24	T	C	5: 137,616,701 (GRCm39)	N394S	probably damaging	Het
Gm9938	A	G	19: 23,701,956 (GRCm39)		probably benign	Het
Iars2	A	G	1: 185,050,824 (GRCm39)	F422L	probably damaging	Het
Marchf3	A	T	18: 56,940,870 (GRCm39)	C87S	probably damaging	Het
Mettl2	T	A	11: 105,028,570 (GRCm39)	Y307*	probably null	Het
Mlh3	T	C	12: 85,314,539 (GRCm39)	D549G	probably benign	Het
Muc4	A	G	16: 32,752,722 (GRCm38)	T867A	probably benign	Het
Nup210l	A	T	3: 90,119,232 (GRCm39)	T1852S	probably benign	Het
Or5aq1	T	A	2: 86,966,086 (GRCm39)	H193L	possibly damaging	Het
Pdk4	A	T	6: 5,485,577 (GRCm39)	S371T	probably benign	Het
Pkm	A	G	9: 59,585,379 (GRCm39)	T454A	probably damaging	Het
Satb2	G	A	1: 56,889,343 (GRCm39)	S340F	probably damaging	Het
Scel	G	A	14: 103,819,268 (GRCm39)	V354I	possibly damaging	Het
Setdb1	T	C	3: 95,247,576 (GRCm39)	T440A	probably benign	Het
Sgk1	T	C	10: 21,872,985 (GRCm39)	F230S	probably damaging	Het
Slc22a23	A	T	13: 34,379,450 (GRCm39)	I439N	probably damaging	Het
Slc9a5	G	A	8: 106,086,078 (GRCm39)	R615Q	probably damaging	Het
Smad1	T	A	8: 80,070,417 (GRCm39)	I374F	probably damaging	Het
Tgm4	A	G	9: 122,875,576 (GRCm39)	E143G	probably benign	Het
Vmn2r53	A	G	7: 12,315,429 (GRCm39)	S797P	probably benign	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
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
R1611: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'- TGCATGGTGTGCTCAGAGAACC -3'

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

Posted On

2014-01-05