Mutagenetix > Incidental Mutation

Incidental Mutation 'R7081:Fam120a'

549556

Institutional Source

Beutler Lab

Gene Symbol

Fam120a

Ensembl Gene

ENSMUSG00000038014

Gene Name

family with sequence similarity 120, member A

Synonyms

MMRRC Submission

045175-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7081 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

49032695-49121493 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 49063801 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 612 (F612L)

Ref Sequence

ENSEMBL: ENSMUSP00000053877 (fasta)

Gene Model

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

AlphaFold

Q6A0A9

Predicted Effect

probably damaging
Transcript: ENSMUST00000060805
AA Change: F612L

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000053877
Gene: ENSMUSG00000038014
AA Change: F612L

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatf	T	A	11: 84,361,951 (GRCm39)	H337L	possibly damaging	Het
Abcb4	T	A	5: 8,984,263 (GRCm39)	N664K	probably benign	Het
Adh7	A	G	3: 137,934,606 (GRCm39)	D343G	probably benign	Het
Als2cl	G	A	9: 110,723,650 (GRCm39)	R682Q	possibly damaging	Het
Angptl6	A	C	9: 20,786,644 (GRCm39)	I334R	probably damaging	Het
Ankrd45	A	G	1: 160,978,863 (GRCm39)	N101D	probably benign	Het
Arhgef10	C	T	8: 15,047,547 (GRCm39)	Q1137*	probably null	Het
Asap3	T	A	4: 135,968,881 (GRCm39)		probably null	Het
Bmp2k	T	C	5: 97,212,820 (GRCm39)	S568P	unknown	Het
C4b	A	C	17: 34,954,417 (GRCm39)	F917L	probably benign	Het
Cacna1e	A	T	1: 154,576,129 (GRCm39)	V168E	possibly damaging	Het
Ccdc60	T	A	5: 116,264,146 (GRCm39)	I543F	probably benign	Het
Cd36	T	C	5: 18,019,702 (GRCm39)	D133G	probably damaging	Het
Chd4	T	C	6: 125,106,948 (GRCm39)	V1911A	unknown	Het
Cplx4	A	T	18: 66,100,538 (GRCm39)		probably null	Het
Cyp1a2	A	T	9: 57,586,272 (GRCm39)	D415E	possibly damaging	Het
Cyp3a57	T	C	5: 145,318,183 (GRCm39)	I388T	probably damaging	Het
Dnajc5b	T	C	3: 19,601,025 (GRCm39)		probably null	Het
Dock4	A	T	12: 40,671,285 (GRCm39)	I35F	probably damaging	Het
Efna4	A	T	3: 89,241,601 (GRCm39)	L206Q	unknown	Het
Eif2a	T	C	3: 58,449,139 (GRCm39)		probably null	Het
Fbxw21	A	G	9: 108,990,990 (GRCm39)	L23P	probably damaging	Het
Fcamr	A	T	1: 130,740,949 (GRCm39)	E456V	probably damaging	Het
Fkbp8	G	A	8: 70,983,644 (GRCm39)	R106H	probably benign	Het
Galr2	T	A	11: 116,173,874 (GRCm39)	L168Q	probably damaging	Het
Gm11111	C	T	5: 98,701,399 (GRCm39)	S22L	unknown	Het
Gnpat	T	C	8: 125,590,008 (GRCm39)	F11S	possibly damaging	Het
H2-T24	A	T	17: 36,328,344 (GRCm39)	D46E	probably damaging	Het
Idh2	GGTCCCAG	GG	7: 79,748,077 (GRCm39)		probably benign	Het
Ifna12	T	C	4: 88,521,440 (GRCm39)	R36G	probably damaging	Het
Kcnma1	G	A	14: 23,350,086 (GRCm39)	P1151L	probably damaging	Het
Kif5c	T	A	2: 49,631,373 (GRCm39)	D683E	probably benign	Het
Krit1	T	C	5: 3,873,651 (GRCm39)	Y477H	possibly damaging	Het
Lipm	T	A	19: 34,098,723 (GRCm39)	V399D	possibly damaging	Het
Lrguk	A	T	6: 34,079,074 (GRCm39)	T770S	probably benign	Het
Lrrc37a	T	C	11: 103,348,781 (GRCm39)	N2638S	unknown	Het
Lrrc40	T	C	3: 157,742,442 (GRCm39)	V27A	probably damaging	Het
Map4k1	T	C	7: 28,690,574 (GRCm39)	V355A	probably benign	Het
Mylk3	T	C	8: 86,091,422 (GRCm39)	I128V	probably benign	Het
Myo1c	A	G	11: 75,551,789 (GRCm39)	D289G	probably benign	Het
Mypn	A	G	10: 62,970,737 (GRCm39)	F889S	probably damaging	Het
Ndufv3	C	T	17: 31,746,407 (GRCm39)	P99L	possibly damaging	Het
Nlrp10	A	C	7: 108,523,855 (GRCm39)	S542A	probably benign	Het
Noc2l	T	A	4: 156,331,477 (GRCm39)	D718E	possibly damaging	Het
Ntng1	T	A	3: 109,759,105 (GRCm39)	I355F	probably benign	Het
Nup210	A	G	6: 91,037,647 (GRCm39)	V742A	possibly damaging	Het
Nup50l	A	G	6: 96,142,798 (GRCm39)	V82A	possibly damaging	Het
Olig2	T	A	16: 91,023,307 (GRCm39)	L7Q	probably damaging	Het
Or51f23b	A	T	7: 102,402,395 (GRCm39)	I247N	probably benign	Het
Or8u10	A	T	2: 85,915,939 (GRCm39)	F61I	probably damaging	Het
Parpbp	A	T	10: 87,929,517 (GRCm39)	W444R	probably damaging	Het
Plekhg3	A	G	12: 76,625,019 (GRCm39)	E1287G	probably benign	Het
Pramel16	T	C	4: 143,675,848 (GRCm39)	D326G	probably damaging	Het
Pramel56	T	A	5: 95,022,641 (GRCm39)	N107K	possibly damaging	Het
Prrc2b	A	T	2: 32,103,075 (GRCm39)	Q851L	probably benign	Het
Psg21	C	T	7: 18,388,774 (GRCm39)	W106*	probably null	Het
Rab18	T	G	18: 6,778,529 (GRCm39)	D53E	probably benign	Het
Rbm19	T	A	5: 120,261,216 (GRCm39)		probably null	Het
Rhobtb1	T	C	10: 69,102,127 (GRCm39)	V136A	probably benign	Het
Rsph4a	G	A	10: 33,785,189 (GRCm39)	V367I	probably damaging	Het
Sec24b	T	C	3: 129,781,391 (GRCm39)	N1161S	probably benign	Het
Sgcd	C	A	11: 47,016,428 (GRCm39)	G145*	probably null	Het
Sin3a	A	G	9: 57,001,755 (GRCm39)	K134R	probably null	Het
Slc9b2	A	G	3: 135,027,698 (GRCm39)	E108G	probably benign	Het
Stk24	A	T	14: 121,531,706 (GRCm39)	S317T	probably benign	Het
Stra8	T	A	6: 34,911,302 (GRCm39)		probably null	Het
Tmem131	A	G	1: 36,928,376 (GRCm39)	V71A	possibly damaging	Het
Tmem87a	T	C	2: 120,211,264 (GRCm39)	D227G	possibly damaging	Het
Vnn1	T	A	10: 23,770,903 (GRCm39)	L44M	possibly damaging	Het
Wdr20	G	A	12: 110,769,884 (GRCm39)	V160I	possibly damaging	Het
Zfand4	T	A	6: 116,292,581 (GRCm39)	N667K	possibly damaging	Het
Zfp1005	A	G	2: 150,110,189 (GRCm39)	H293R	possibly damaging	Het
Zfp609	A	G	9: 65,609,723 (GRCm39)	V1080A	possibly damaging	Het
Zhx1	C	T	15: 57,917,734 (GRCm39)	V171I	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
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
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'- GTACAAGGAGAGTCTCAGGC -3'
(R):5'- AGCCATTGGAATAGACTAGCTATGTC -3'

Sequencing Primer
(F):5'- CAACTCAGCCACCATACTTCTAAGG -3'
(R):5'- GAGATGATACAGTATATTGCTGTGAG -3'

Posted On

2019-05-15