Mutagenetix > Incidental Mutation

Incidental Mutation 'R4640:Fam124b'

351596

Institutional Source

Beutler Lab

Gene Symbol

Fam124b

Ensembl Gene

ENSMUSG00000043230

Gene Name

family with sequence similarity 124, member B

Synonyms

MMRRC Submission

041902-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R4640 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80198706-80218473 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 80213526 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 47 (R47C)

Ref Sequence

ENSEMBL: ENSMUSP00000052208 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058748]

AlphaFold

Q8BLQ0

Predicted Effect

probably damaging
Transcript: ENSMUST00000058748
AA Change: R47C

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

SMART Domains

Protein: ENSMUSP00000052208
Gene: ENSMUSG00000043230
AA Change: R47C

Domain	Start	End	E-Value	Type
Pfam:FAM124	10	244	1.2e-107	PFAM
low complexity region	288	297	N/A	INTRINSIC
low complexity region	379	394	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161427

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

93% (39/42)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts16	G	A	13: 70,779,518		probably benign	Het
Adgrl4	T	C	3: 151,500,310		probably benign	Het
Ano4	C	T	10: 88,954,697	A847T	probably damaging	Het
Atp11a	A	G	8: 12,828,434		probably benign	Het
Cct4	T	A	11: 23,002,297	S463T	probably benign	Het
Cnmd	T	C	14: 79,656,653	N98S	probably damaging	Het
Copz2	A	T	11: 96,856,707	Q172L	possibly damaging	Het
Ctdp1	C	A	18: 80,451,154		probably null	Het
Cyfip1	C	T	7: 55,913,451	T865I	possibly damaging	Het
Cyp2c37	A	T	19: 40,011,832	D466V	possibly damaging	Het
Dytn	A	G	1: 63,643,348	L380P	possibly damaging	Het
Foxe3	G	A	4: 114,925,775	A80V	probably damaging	Het
Gm5884	A	G	6: 128,645,771		noncoding transcript	Het
Kera	A	T	10: 97,612,887	Y323F	probably damaging	Het
Lipf	A	T	19: 33,968,797	Y205F	probably damaging	Het
Lipo2	T	C	19: 33,720,837	E380G	probably benign	Het
Mcm2	A	T	6: 88,887,804	H563Q	possibly damaging	Het
Mindy3	T	C	2: 12,348,163	E409G	probably benign	Het
Mns1	A	G	9: 72,439,282	K16E	probably benign	Het
Naip5	T	A	13: 100,219,830	E1092D	probably benign	Het
Nlrp4g	T	C	9: 124,349,153		noncoding transcript	Het
Nrxn1	A	G	17: 90,560,768	S1105P	probably damaging	Het
Odf2l	G	A	3: 145,128,945	R186H	probably damaging	Het
Olfr309	T	A	7: 86,307,066	T16S	probably benign	Het
Olfr709-ps1	T	C	7: 106,926,593	I289V	possibly damaging	Het
Phxr2	T	C	10: 99,126,069		probably benign	Het
Plcxd3	T	C	15: 4,517,243	F243S	probably damaging	Het
Ppp1r27	T	C	11: 120,550,727	N76D	possibly damaging	Het
Ptprz1	A	G	6: 22,972,798	T236A	probably damaging	Het
Pyroxd1	C	G	6: 142,354,741	S199*	probably null	Het
R3hdm1	T	C	1: 128,175,238		probably benign	Het
Sall2	T	A	14: 52,315,159	Q193L	probably damaging	Het
Srpk1	T	C	17: 28,608,724	S39G	probably benign	Het
Tcaf3	A	G	6: 42,587,579	V883A	probably damaging	Het
Tmem104	T	A	11: 115,243,724	V362E	probably damaging	Het
Wdr66	G	T	5: 123,302,432	V1094L	probably benign	Het

Other mutations in Fam124b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01114:Fam124b	APN	1	80213135	missense	possibly damaging	0.95
IGL03384:Fam124b	APN	1	80199956	missense	probably benign
R0233:Fam124b	UTSW	1	80212986	missense	probably damaging	1.00
R0233:Fam124b	UTSW	1	80212986	missense	probably damaging	1.00
R1403:Fam124b	UTSW	1	80213339	missense	possibly damaging	0.57
R1403:Fam124b	UTSW	1	80213339	missense	possibly damaging	0.57
R1514:Fam124b	UTSW	1	80200431	missense	possibly damaging	0.82
R1569:Fam124b	UTSW	1	80213135	missense	possibly damaging	0.95
R1983:Fam124b	UTSW	1	80213647	missense	probably benign	0.03
R3104:Fam124b	UTSW	1	80213031	missense	probably damaging	1.00
R5014:Fam124b	UTSW	1	80200059	missense	probably benign	0.00
R6180:Fam124b	UTSW	1	80200185	missense	possibly damaging	0.71
R7618:Fam124b	UTSW	1	80213837	start gained	probably benign
R7682:Fam124b	UTSW	1	80213565	missense	possibly damaging	0.87
R7720:Fam124b	UTSW	1	80200257	missense	probably damaging	1.00
R7812:Fam124b	UTSW	1	80213634	missense	probably damaging	1.00
R7877:Fam124b	UTSW	1	80213336	missense	probably damaging	1.00
R7898:Fam124b	UTSW	1	80213795	start gained	probably benign
R7989:Fam124b	UTSW	1	80213594	missense	probably damaging	1.00
R8851:Fam124b	UTSW	1	80213165	missense	probably damaging	1.00
R9022:Fam124b	UTSW	1	80212988	missense	probably damaging	1.00
R9292:Fam124b	UTSW	1	80213504	missense	probably benign	0.04
R9607:Fam124b	UTSW	1	80213096	missense	probably damaging	1.00
T0975:Fam124b	UTSW	1	80213126	missense	probably benign	0.06
X0005:Fam124b	UTSW	1	80213126	missense	probably benign	0.06
X0062:Fam124b	UTSW	1	80212961	missense	probably damaging	1.00
Z1176:Fam124b	UTSW	1	80213403	missense	possibly damaging	0.58
Z1177:Fam124b	UTSW	1	80200088	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GGTTGTGCAGACTGTAGAATTC -3'
(R):5'- TCGGGTGGCCTTCATCATAATC -3'

Sequencing Primer
(F):5'- CAGACTGTAGAATTCCTGATTGGCAG -3'
(R):5'- ATAATCTTCACATAGCCTGCCATGG -3'

Posted On

2015-10-08