Mutagenetix > Incidental Mutation

Incidental Mutation 'R1080:Fam120a'

85836

Institutional Source

Beutler Lab

Gene Symbol

Fam120a

Ensembl Gene

ENSMUSG00000038014

Gene Name

family with sequence similarity 120, member A

Synonyms

MMRRC Submission

039166-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1080 (G1)

Quality Score

185

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: 99.4%
3x: 98.8%
10x: 97.5%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	A	G	7: 27,265,109 (GRCm39)	N87S	probably benign	Het
Agbl3	A	T	6: 34,805,170 (GRCm39)	N679I	probably benign	Het
Akp3	T	A	1: 87,054,723 (GRCm39)	F353I	probably damaging	Het
Bltp1	A	G	3: 37,042,404 (GRCm39)	T2797A	probably damaging	Het
Calu	A	G	6: 29,366,919 (GRCm39)	T44A	possibly damaging	Het
Cd180	G	A	13: 102,842,728 (GRCm39)	W591*	probably null	Het
Cnbd2	A	G	2: 156,181,193 (GRCm39)	N209S	probably benign	Het
Fam136b-ps	T	C	15: 31,276,739 (GRCm39)		probably benign	Het
Fbln5	A	T	12: 101,717,131 (GRCm39)	M419K	possibly damaging	Het
Galr1	A	C	18: 82,423,632 (GRCm39)	I215S	probably damaging	Het
Kcnma1	G	C	14: 23,544,675 (GRCm39)	Q436E	probably damaging	Het
Khsrp	GTCATT	GT	17: 57,331,410 (GRCm39)		probably null	Het
Klhdc8b	T	C	9: 108,326,837 (GRCm39)	N175S	probably benign	Het
Lrrk2	T	C	15: 91,557,892 (GRCm39)	V76A	probably benign	Het
Mnat1	T	C	12: 73,319,292 (GRCm39)	F305S	probably damaging	Het
Nck2	T	C	1: 43,572,741 (GRCm39)	V5A	probably benign	Het
Nkd1	T	A	8: 89,318,647 (GRCm39)	M428K	probably benign	Het
Or4e5	A	T	14: 52,728,042 (GRCm39)	Y43*	probably null	Het
Pcdh7	T	C	5: 57,876,768 (GRCm39)	C108R	probably damaging	Het
Rtf2	G	T	2: 172,310,666 (GRCm39)	W299L	probably damaging	Het
Smtn	C	A	11: 3,467,693 (GRCm39)	R942L	probably damaging	Het
Svil	C	T	18: 5,058,147 (GRCm39)	P265S	possibly damaging	Het
Tdrd3	T	C	14: 87,743,834 (GRCm39)	L588P	probably benign	Het
Tecpr1	A	G	5: 144,153,747 (GRCm39)	Y169H	probably damaging	Het
Tktl2	G	A	8: 66,964,999 (GRCm39)	V186M	probably damaging	Het
Tmprss2	G	A	16: 97,392,698 (GRCm39)	S83L	probably benign	Het
Tut4	A	G	4: 108,336,696 (GRCm39)	E140G	possibly damaging	Het
Vmn2r112	T	C	17: 22,837,980 (GRCm39)	S814P	probably damaging	Het
Zfp386	T	A	12: 116,023,426 (GRCm39)	C381*	probably null	Het
Zfp809	T	G	9: 22,146,405 (GRCm39)	D31E	probably damaging	Het
Zfy2	T	A	Y: 2,121,645 (GRCm39)	T83S	probably benign	Het
Zswim6	A	G	13: 107,924,186 (GRCm39)		noncoding transcript	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
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

2013-11-18