Mutagenetix > Incidental Mutation

Incidental Mutation 'R0987:Fam120a'

97306

Institutional Source

Beutler Lab

Gene Symbol

Fam120a

Ensembl Gene

ENSMUSG00000038014

Gene Name

family with sequence similarity 120, member A

Synonyms

MMRRC Submission

039107-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0987 (G1)

Quality Score

120

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: 97.7%
10x: 94.4%
20x: 87.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm1	T	A	4: 144,246,502 (GRCm39)	V16D	possibly damaging	Het
Cacng6	C	T	7: 3,479,020 (GRCm39)	T133I	probably damaging	Het
Car6	A	G	4: 150,281,800 (GRCm39)	I71T	probably damaging	Het
Crem	A	T	18: 3,288,060 (GRCm39)	S178T	probably damaging	Het
Fcgbp	G	T	7: 27,793,599 (GRCm39)	C1167F	probably damaging	Het
Glipr1l1	A	G	10: 111,914,340 (GRCm39)	S234G	probably benign	Het
Igsf9b	T	C	9: 27,243,849 (GRCm39)		probably null	Het
Kif26b	T	C	1: 178,649,185 (GRCm39)	L435P	probably damaging	Het
Kirrel2	T	C	7: 30,147,555 (GRCm39)	T698A	probably damaging	Het
Lrrc9	T	C	12: 72,557,156 (GRCm39)	V1407A	probably benign	Het
Mau2	T	C	8: 70,480,348 (GRCm39)	D275G	probably damaging	Het
Mib2	C	T	4: 155,743,917 (GRCm39)	G42S	probably damaging	Het
Notch2	T	C	3: 98,041,993 (GRCm39)		probably null	Het
Nr0b2	G	A	4: 133,283,503 (GRCm39)	V247I	probably benign	Het
Or4c11	A	T	2: 88,695,527 (GRCm39)	I193L	probably benign	Het
Or5l13	G	A	2: 87,779,891 (GRCm39)	R229C	probably benign	Het
Or8k28	A	T	2: 86,285,891 (GRCm39)	C241*	probably null	Het
Pigf	A	G	17: 87,304,973 (GRCm39)	L190P	probably damaging	Het
Rasef	A	T	4: 73,652,721 (GRCm39)	C593*	probably null	Het
Tex15	T	G	8: 34,066,875 (GRCm39)	W2102G	probably damaging	Het
Tmbim1	T	C	1: 74,333,083 (GRCm39)		probably null	Het
Tmem183a	A	T	1: 134,280,109 (GRCm39)	F257Y	probably damaging	Het
Zbtb11	A	G	16: 55,811,071 (GRCm39)	T410A	probably benign	Het
Zzef1	TGCGTGGGAACCCGC	TGC	11: 72,792,159 (GRCm39)		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
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
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'- GAGTGGAAATAACACCCCTTGGACG -3'
(R):5'- GCATGGTGTGCTCAGAGAACCTTC -3'

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

Posted On

2014-01-05