Mutagenetix > Incidental Mutation

Incidental Mutation 'R2433:Fam120a'

250503

Institutional Source

Beutler Lab

Gene Symbol

Fam120a

Ensembl Gene

ENSMUSG00000038014

Gene Name

family with sequence similarity 120, member A

Synonyms

MMRRC Submission

040394-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2433 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

49032695-49121493 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 49087444 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 305 (D305E)

Ref Sequence

ENSEMBL: ENSMUSP00000053877 (fasta)

Gene Model

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

AlphaFold

Q6A0A9

Predicted Effect

probably damaging
Transcript: ENSMUST00000060805
AA Change: D305E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000053877
Gene: ENSMUSG00000038014
AA Change: D305E

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: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp6v0a4	A	G	6: 38,058,964 (GRCm39)		probably null	Het
Bpifb4	A	G	2: 153,801,597 (GRCm39)	K573E	probably damaging	Het
Capn10	T	A	1: 92,870,247 (GRCm39)	D244E	probably benign	Het
Dhrs11	C	A	11: 84,719,745 (GRCm39)		probably benign	Het
Eipr1	G	A	12: 28,913,042 (GRCm39)	G248R	probably damaging	Het
Hmgcr	A	G	13: 96,802,393 (GRCm39)	L97P	probably damaging	Het
Htt	A	T	5: 35,064,885 (GRCm39)	S3033C	possibly damaging	Het
Igkv10-94	T	C	6: 68,681,559 (GRCm39)	T94A	probably benign	Het
Krtap16-3	T	C	16: 88,759,533 (GRCm39)	Y60C	unknown	Het
Lrp4	G	A	2: 91,336,360 (GRCm39)	V1724I	probably benign	Het
Myo5b	A	G	18: 74,892,158 (GRCm39)	Y1634C	probably damaging	Het
Nrxn3	A	G	12: 89,943,160 (GRCm39)	Y96C	probably damaging	Het
Obscn	A	T	11: 58,929,912 (GRCm39)		probably null	Het
Pde3b	T	C	7: 114,126,072 (GRCm39)	C769R	probably benign	Het
Phlpp2	T	G	8: 110,666,634 (GRCm39)	C1054W	probably damaging	Het
Pttg1	A	T	11: 43,311,178 (GRCm39)	V193D	probably damaging	Het
Robo1	T	C	16: 72,767,127 (GRCm39)	L433S	probably benign	Het
Sema4f	A	T	6: 82,916,490 (GRCm39)	C13S	possibly damaging	Het
Slc12a3	T	C	8: 95,072,944 (GRCm39)	L689P	probably benign	Het
Slc7a6os	T	C	8: 106,931,003 (GRCm39)	N211S	possibly damaging	Het
Smurf2	T	A	11: 106,759,490 (GRCm39)	I69F	probably benign	Het
St8sia3	A	T	18: 64,402,787 (GRCm39)	H198L	probably benign	Het
Tacc3	A	G	5: 33,829,083 (GRCm39)	K594R	possibly damaging	Het
Trip12	A	T	1: 84,721,544 (GRCm39)	I1396K	possibly damaging	Het
Ugcg	A	G	4: 59,207,876 (GRCm39)	T72A	possibly damaging	Het
Zfp944	A	T	17: 22,558,193 (GRCm39)	Y351*	probably null	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
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'- AGCACATACATCTTATGAACAGAGC -3'
(R):5'- GCAGGCACACTTTGGAGTATC -3'

Sequencing Primer
(F):5'- CTTATGAACAGAGCACTTAAGAGC -3'
(R):5'- CACACTTTGGAGTATCTGGGTCC -3'

Posted On

2014-11-12