Mutagenetix > Incidental Mutation

Incidental Mutation 'R5400:Fam120b'

429958

Institutional Source

Beutler Lab

Gene Symbol

Fam120b

Ensembl Gene

ENSMUSG00000014763

Gene Name

family with sequence similarity 120, member B

Synonyms

CCPG, 4932442K08Rik

MMRRC Submission

042971-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5400 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

15396202-15433583 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 15403126 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 455 (L455F)

Ref Sequence

ENSEMBL: ENSMUSP00000054420 (fasta)

Gene Model

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

AlphaFold

Q6RI63

Predicted Effect

possibly damaging
Transcript: ENSMUST00000055352
AA Change: L455F

PolyPhen 2 Score 0.551 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000054420
Gene: ENSMUSG00000014763
AA Change: L455F

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

Meta Mutation Damage Score

0.1924

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.3%

Validation Efficiency

98% (64/65)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330182L06Rik	A	T	5: 9,479,247	N1027Y	probably damaging	Het
Accsl	T	C	2: 93,859,422	D380G	probably damaging	Het
Afm	T	C	5: 90,551,398	L567P	possibly damaging	Het
AI481877	A	G	4: 59,082,432	S399P	possibly damaging	Het
Anks1b	A	T	10: 90,512,824	I785L	probably damaging	Het
Arpc5l	G	A	2: 39,013,735	G79S	probably benign	Het
Arvcf	G	T	16: 18,399,070	R440L	probably benign	Het
Atm	T	C	9: 53,503,018	D924G	probably damaging	Het
Atp8b1	A	T	18: 64,545,989		probably null	Het
Cd19	C	T	7: 126,414,452	G55D	probably benign	Het
Cd34	A	G	1: 194,938,958		probably benign	Het
Cd69	T	A	6: 129,269,991	M88L	probably benign	Het
Ces2h	A	G	8: 105,018,425	E397G	probably benign	Het
Ddx60	T	C	8: 62,010,002	F1306L	possibly damaging	Het
Dennd5b	T	C	6: 149,000,016	E1124G	probably damaging	Het
Dio1	A	T	4: 107,306,988	M44K	probably damaging	Het
En1	A	G	1: 120,603,595	D188G	probably damaging	Het
Epha10	C	T	4: 124,914,121		probably benign	Het
Flt4	AC	ACC	11: 49,651,034		probably null	Het
Gm38394	G	A	1: 133,658,141	T486I	probably damaging	Het
Incenp	A	G	19: 9,877,675		probably null	Het
Kansl3	A	G	1: 36,358,149	V86A	possibly damaging	Het
Klhl7	C	G	5: 24,126,920	F73L	probably damaging	Het
Med28	T	A	5: 45,525,199	V69D	probably damaging	Het
Mknk1	C	A	4: 115,864,552	L98M	probably damaging	Het
Mknk1	T	A	4: 115,864,553	L98Q	probably damaging	Het
Myo3b	T	A	2: 70,105,380	C97S	probably damaging	Het
Neto1	A	G	18: 86,395,908	H9R	possibly damaging	Het
Olfr1230	T	C	2: 89,296,913	D119G	probably damaging	Het
Olfr317	T	C	11: 58,732,320	T282A	possibly damaging	Het
Olfr354	A	T	2: 36,907,821	I292F	probably damaging	Het
Olfr78	G	A	7: 102,742,430	T191I	probably benign	Het
Omd	A	T	13: 49,592,227	E371V	probably benign	Het
Osbpl9	G	T	4: 109,062,300	Y733*	probably null	Het
Pcdh12	A	T	18: 38,268,898	S91R	probably damaging	Het
Pxk	C	A	14: 8,136,911	P144Q	probably benign	Het
Qser1	A	G	2: 104,789,874	S198P	probably damaging	Het
Recql	T	G	6: 142,362,347		probably benign	Het
Reln	T	C	5: 21,979,714	D1601G	probably damaging	Het
Scn10a	T	C	9: 119,609,034	D1922G	probably damaging	Het
Scn11a	T	A	9: 119,769,908	R1185S	probably damaging	Het
Sh3bp5	C	A	14: 31,377,495	R265L	probably benign	Het
Slc13a4	A	T	6: 35,301,842	C37*	probably null	Het
Slc22a30	G	A	19: 8,344,393	Q436*	probably null	Het
Slc9a9	T	A	9: 94,712,901	F155I	probably damaging	Het
Spef2	T	A	15: 9,614,281	K1193M	probably damaging	Het
Swt1	T	C	1: 151,412,834	T80A	probably benign	Het
Tmc1	A	G	19: 20,804,602	I584T	probably damaging	Het
Tsc22d1	C	A	14: 76,417,054	F324L	probably benign	Het
Usp19	T	C	9: 108,500,193	V1236A	probably damaging	Het
Vmn2r63	T	C	7: 42,928,211	N301S	probably benign	Het
Wrn	C	T	8: 33,294,917	V476I	probably benign	Het
Zbtb25	C	A	12: 76,349,702	E249*	probably null	Het
Zfp54	C	A	17: 21,433,700	T152K	probably benign	Het

Other mutations in Fam120b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00588:Fam120b	APN	17	15402595	nonsense	probably null
IGL01874:Fam120b	APN	17	15403039	nonsense	probably null
IGL02111:Fam120b	APN	17	15402585	missense	possibly damaging	0.67
IGL02395:Fam120b	APN	17	15402515	missense	probably damaging	1.00
IGL02901:Fam120b	APN	17	15407702	splice site	probably benign
IGL03380:Fam120b	APN	17	15403134	splice site	probably benign
R0139:Fam120b	UTSW	17	15426184	splice site	probably benign
R0242:Fam120b	UTSW	17	15422924	missense	probably damaging	1.00
R0242:Fam120b	UTSW	17	15422924	missense	probably damaging	1.00
R0244:Fam120b	UTSW	17	15417637	missense	probably damaging	1.00
R0486:Fam120b	UTSW	17	15426288	splice site	probably benign
R0551:Fam120b	UTSW	17	15431643	splice site	probably benign
R0584:Fam120b	UTSW	17	15402122	missense	probably damaging	1.00
R0620:Fam120b	UTSW	17	15402927	missense	probably benign
R1606:Fam120b	UTSW	17	15401811	missense	possibly damaging	0.79
R1638:Fam120b	UTSW	17	15402497	missense	possibly damaging	0.95
R2022:Fam120b	UTSW	17	15424376	missense	possibly damaging	0.70
R3411:Fam120b	UTSW	17	15431635	splice site	probably benign
R4422:Fam120b	UTSW	17	15402183	missense	probably damaging	1.00
R4754:Fam120b	UTSW	17	15422962	missense	probably damaging	1.00
R4756:Fam120b	UTSW	17	15402396	missense	probably damaging	1.00
R4883:Fam120b	UTSW	17	15403032	missense	probably benign
R5418:Fam120b	UTSW	17	15401799	missense	probably damaging	1.00
R5632:Fam120b	UTSW	17	15403082	missense	probably benign	0.08
R5878:Fam120b	UTSW	17	15402240	missense	probably damaging	1.00
R6030:Fam120b	UTSW	17	15401910	missense	probably damaging	1.00
R6030:Fam120b	UTSW	17	15401910	missense	probably damaging	1.00
R6846:Fam120b	UTSW	17	15414829	missense	probably damaging	1.00
R6929:Fam120b	UTSW	17	15423028	missense	possibly damaging	0.78
R7356:Fam120b	UTSW	17	15407696	missense	probably benign	0.05
R7616:Fam120b	UTSW	17	15402836	missense	possibly damaging	0.79
R7848:Fam120b	UTSW	17	15405774	missense	possibly damaging	0.93
R8386:Fam120b	UTSW	17	15422984	missense	probably benign	0.01
R8782:Fam120b	UTSW	17	15402210	missense	probably damaging	0.98
R9364:Fam120b	UTSW	17	15405758	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- ACAAGAAGTTCCCATGTGCAC -3'
(R):5'- TCCCATCCTATTCACAAGGCAG -3'

Sequencing Primer
(F):5'- GAAGTTCCCATGTGCACAGACTC -3'
(R):5'- TTCACAAGGCAGTATCAGATGTACC -3'

Posted On

2016-09-06