Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01874:Fam120b'

178801

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fam120b

Ensembl Gene

ENSMUSG00000014763

Gene Name

family with sequence similarity 120, member B

Synonyms

4932442K08Rik, CCPG

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01874

Quality Score

Status

Chromosome

Chromosomal Location

15616464-15653843 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 15623301 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 426 (C426*)

Ref Sequence

ENSEMBL: ENSMUSP00000054420 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055352]

AlphaFold

Q6RI63

Predicted Effect

probably null
Transcript: ENSMUST00000055352
AA Change: C426*

SMART Domains

Protein: ENSMUSP00000054420
Gene: ENSMUSG00000014763
AA Change: C426*

Domain	Start	End	E-Value	Type
Blast:XPGN	1	111	7e-46	BLAST
SCOP:d1a77_2	21	185	6e-8	SMART
internal_repeat_1	324	364	9.23e-10	PROSPERO
internal_repeat_1	372	412	9.23e-10	PROSPERO
low complexity region	650	664	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231274

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231318

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts16	A	T	13: 70,916,823 (GRCm39)	V723D	possibly damaging	Het
Adgrb1	G	A	15: 74,413,423 (GRCm39)	V536I	possibly damaging	Het
Aox4	T	C	1: 58,291,243 (GRCm39)	L787S	probably damaging	Het
Atp2c1	A	C	9: 105,326,024 (GRCm39)	V293G	probably damaging	Het
Ccnb1	T	C	13: 100,920,001 (GRCm39)	D170G	probably damaging	Het
Cdc42	T	C	4: 137,063,381 (GRCm39)	I4V	probably benign	Het
Clip1	T	C	5: 123,741,729 (GRCm39)	Q1175R	possibly damaging	Het
Cox6a1	A	G	5: 115,483,904 (GRCm39)	*113Q	probably null	Het
Crtc2	C	T	3: 90,165,815 (GRCm39)	P139L	probably damaging	Het
Cyp8b1	A	T	9: 121,744,969 (GRCm39)	M121K	possibly damaging	Het
D630003M21Rik	C	A	2: 158,046,644 (GRCm39)	G778C	probably damaging	Het
Dgat1	A	G	15: 76,387,241 (GRCm39)	F349L	probably damaging	Het
Enox1	A	G	14: 77,816,602 (GRCm39)	Y194C	probably damaging	Het
Fxyd3	A	G	7: 30,770,318 (GRCm39)		probably benign	Het
Gin1	A	G	1: 97,710,797 (GRCm39)	Y160C	probably damaging	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm11110	T	A	17: 57,399,693 (GRCm39)		probably benign	Het
Gm1818	T	C	12: 48,602,973 (GRCm39)		noncoding transcript	Het
Gucy1a2	T	C	9: 3,797,343 (GRCm39)	S598P	probably damaging	Het
Hook3	T	A	8: 26,529,760 (GRCm39)	N199Y	possibly damaging	Het
Il10ra	A	G	9: 45,178,458 (GRCm39)	L41P	probably damaging	Het
Itgam	C	T	7: 127,714,338 (GRCm39)	T949I	probably damaging	Het
Kctd3	A	G	1: 188,729,188 (GRCm39)	V123A	probably damaging	Het
Krt84	G	A	15: 101,436,239 (GRCm39)	A450V	probably damaging	Het
Lrrc7	G	A	3: 157,946,080 (GRCm39)		probably benign	Het
Nckap1	A	G	2: 80,355,980 (GRCm39)	F608L	probably damaging	Het
Niban2	A	T	2: 32,795,779 (GRCm39)		probably null	Het
Nmbr	A	T	10: 14,642,696 (GRCm39)	Y85F	probably benign	Het
Nol6	A	C	4: 41,115,412 (GRCm39)	L1135R	probably damaging	Het
Ntan1	T	C	16: 13,653,077 (GRCm39)	F278L	probably benign	Het
Or2n1e	T	A	17: 38,586,408 (GRCm39)	S249T	probably benign	Het
Pcsk5	T	A	19: 17,573,041 (GRCm39)	T474S	probably damaging	Het
Pex11b	T	A	3: 96,550,883 (GRCm39)		probably null	Het
Pkhd1	G	T	1: 20,173,459 (GRCm39)	A3786E	probably benign	Het
Prkdc	T	C	16: 15,552,858 (GRCm39)	I2098T	possibly damaging	Het
Prl2c5	T	A	13: 13,365,362 (GRCm39)	S169R	probably benign	Het
Ptbp2	A	G	3: 119,541,449 (GRCm39)	V196A	probably damaging	Het
Rad17	T	C	13: 100,754,192 (GRCm39)		probably benign	Het
Skic2	T	C	17: 35,060,185 (GRCm39)	N114D	probably benign	Het
Slc47a2	T	A	11: 61,203,685 (GRCm39)		probably null	Het
Srcin1	A	T	11: 97,423,924 (GRCm39)	M684K	possibly damaging	Het
Sspo	T	A	6: 48,429,124 (GRCm39)	C298S	probably damaging	Het
Tenm3	G	T	8: 48,689,793 (GRCm39)	Y1915*	probably null	Het
Tnks1bp1	A	G	2: 84,888,791 (GRCm39)	T373A	probably benign	Het
Trp63	A	C	16: 25,701,335 (GRCm39)	N470H	possibly damaging	Het
Ttn	T	C	2: 76,628,907 (GRCm39)	N12703S	probably damaging	Het
Ubr4	T	C	4: 139,120,600 (GRCm39)		probably benign	Het
Vmn2r56	T	A	7: 12,449,602 (GRCm39)	Y212F	probably benign	Het

Other mutations in Fam120b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00588:Fam120b	APN	17	15,622,857 (GRCm39)	nonsense	probably null
IGL02111:Fam120b	APN	17	15,622,847 (GRCm39)	missense	possibly damaging	0.67
IGL02395:Fam120b	APN	17	15,622,777 (GRCm39)	missense	probably damaging	1.00
IGL02901:Fam120b	APN	17	15,627,964 (GRCm39)	splice site	probably benign
IGL03380:Fam120b	APN	17	15,623,396 (GRCm39)	splice site	probably benign
R0139:Fam120b	UTSW	17	15,646,446 (GRCm39)	splice site	probably benign
R0242:Fam120b	UTSW	17	15,643,186 (GRCm39)	missense	probably damaging	1.00
R0242:Fam120b	UTSW	17	15,643,186 (GRCm39)	missense	probably damaging	1.00
R0244:Fam120b	UTSW	17	15,637,899 (GRCm39)	missense	probably damaging	1.00
R0486:Fam120b	UTSW	17	15,646,550 (GRCm39)	splice site	probably benign
R0551:Fam120b	UTSW	17	15,651,905 (GRCm39)	splice site	probably benign
R0584:Fam120b	UTSW	17	15,622,384 (GRCm39)	missense	probably damaging	1.00
R0620:Fam120b	UTSW	17	15,623,189 (GRCm39)	missense	probably benign
R1606:Fam120b	UTSW	17	15,622,073 (GRCm39)	missense	possibly damaging	0.79
R1638:Fam120b	UTSW	17	15,622,759 (GRCm39)	missense	possibly damaging	0.95
R2022:Fam120b	UTSW	17	15,644,638 (GRCm39)	missense	possibly damaging	0.70
R3411:Fam120b	UTSW	17	15,651,897 (GRCm39)	splice site	probably benign
R4422:Fam120b	UTSW	17	15,622,445 (GRCm39)	missense	probably damaging	1.00
R4754:Fam120b	UTSW	17	15,643,224 (GRCm39)	missense	probably damaging	1.00
R4756:Fam120b	UTSW	17	15,622,658 (GRCm39)	missense	probably damaging	1.00
R4883:Fam120b	UTSW	17	15,623,294 (GRCm39)	missense	probably benign
R5400:Fam120b	UTSW	17	15,623,388 (GRCm39)	missense	possibly damaging	0.55
R5418:Fam120b	UTSW	17	15,622,061 (GRCm39)	missense	probably damaging	1.00
R5632:Fam120b	UTSW	17	15,623,344 (GRCm39)	missense	probably benign	0.08
R5878:Fam120b	UTSW	17	15,622,502 (GRCm39)	missense	probably damaging	1.00
R6030:Fam120b	UTSW	17	15,622,172 (GRCm39)	missense	probably damaging	1.00
R6030:Fam120b	UTSW	17	15,622,172 (GRCm39)	missense	probably damaging	1.00
R6846:Fam120b	UTSW	17	15,635,091 (GRCm39)	missense	probably damaging	1.00
R6929:Fam120b	UTSW	17	15,643,290 (GRCm39)	missense	possibly damaging	0.78
R7356:Fam120b	UTSW	17	15,627,958 (GRCm39)	missense	probably benign	0.05
R7616:Fam120b	UTSW	17	15,623,098 (GRCm39)	missense	possibly damaging	0.79
R7848:Fam120b	UTSW	17	15,626,036 (GRCm39)	missense	possibly damaging	0.93
R8386:Fam120b	UTSW	17	15,643,246 (GRCm39)	missense	probably benign	0.01
R8782:Fam120b	UTSW	17	15,622,472 (GRCm39)	missense	probably damaging	0.98
R9364:Fam120b	UTSW	17	15,626,020 (GRCm39)	missense	possibly damaging	0.95
R9554:Fam120b	UTSW	17	15,626,020 (GRCm39)	missense	possibly damaging	0.95

Posted On

2014-05-07