Mutagenetix > Incidental Mutation

Incidental Mutation 'R1403:Fam124b'

160423

Institutional Source

Beutler Lab

Gene Symbol

Fam124b

Ensembl Gene

ENSMUSG00000043230

Gene Name

family with sequence similarity 124, member B

Synonyms

MMRRC Submission

039465-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R1403 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

80198706-80218473 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 80213339 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 109 (Y109C)

Ref Sequence

ENSEMBL: ENSMUSP00000052208 (fasta)

Gene Model

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

AlphaFold

Q8BLQ0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000058748
AA Change: Y109C

PolyPhen 2 Score 0.568 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000052208
Gene: ENSMUSG00000043230
AA Change: Y109C

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

0.5776

Coding Region Coverage

1x: 99.3%
3x: 97.5%
10x: 88.5%
20x: 65.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsf2	G	T	11: 94,562,874	N420K	probably benign	Het
Adam26a	A	T	8: 43,569,192	C420*	probably null	Het
Afap1l1	T	C	18: 61,741,838	Y424C	probably damaging	Het
Agl	A	G	3: 116,782,597	V553A	probably benign	Het
Akr7a5	T	A	4: 139,318,123	M325K	probably damaging	Het
Aldh7a1	C	A	18: 56,559,269	E87*	probably null	Het
Arhgap29	A	G	3: 121,973,929	K7E	probably damaging	Het
Brca2	T	A	5: 150,542,649	D1959E	probably benign	Het
Cdh7	G	A	1: 110,061,132	V255I	probably benign	Het
Chil5	G	T	3: 106,018,093	Q171K	probably benign	Het
Cul9	C	G	17: 46,522,175	A1326P	probably damaging	Het
Dhrs7c	A	T	11: 67,811,650	I155F	probably damaging	Het
Dip2c	A	G	13: 9,553,264		probably null	Het
Gak	T	A	5: 108,591,145	K156M	probably damaging	Het
Gm17535	A	G	9: 3,035,804	Y224C	probably null	Het
Got1l1	C	G	8: 27,200,717		probably null	Het
Grm1	T	C	10: 11,080,135	D135G	probably benign	Het
Hrh3	T	G	2: 180,102,754	D131A	probably damaging	Het
Hspg2	C	T	4: 137,540,100	L2042F	possibly damaging	Het
Itpr1	A	T	6: 108,389,553	Q979L	probably null	Het
Klb	G	C	5: 65,348,746	R112P	possibly damaging	Het
Lingo2	A	T	4: 35,709,420	C187S	possibly damaging	Het
Lrp1	T	A	10: 127,581,891		probably null	Het
Ltbp4	T	C	7: 27,329,039	N266S	unknown	Het
Mgam	G	A	6: 40,666,881	S581N	possibly damaging	Het
Mrgpra9	T	A	7: 47,235,638	I94L	probably benign	Het
Msantd4	A	T	9: 4,384,023	I115F	probably benign	Het
Nrxn1	A	C	17: 90,643,053	L566R	probably benign	Het
Olfr483	T	A	7: 108,103,615	I102N	probably benign	Het
Prl7d1	A	T	13: 27,709,197	F243I	possibly damaging	Het
Rbm27	T	C	18: 42,317,681	S509P	probably damaging	Het
Rnf44	C	T	13: 54,682,008	E306K	probably damaging	Het
Rp1	T	C	1: 4,346,297	R1531G	possibly damaging	Het
Sf3b4	A	G	3: 96,173,637		probably null	Het
Sfi1	TCGC	TC	11: 3,146,254		probably null	Het
Sfi1	CCTCTC	CCTCTCTC	11: 3,177,419		probably benign	Het
Sp110	T	G	1: 85,579,079	E421A	probably benign	Het
Stk4	C	T	2: 164,100,528	T360M	probably benign	Het
Vcan	T	A	13: 89,688,484	E2980D	probably benign	Het
Vwa2	C	T	19: 56,881,138	P2S	unknown	Het
Wdr77	G	A	3: 105,967,257	V322I	possibly damaging	Het
Zfp12	C	A	5: 143,244,780	Y287*	probably null	Het
Zfp937	T	A	2: 150,238,948	Y299*	probably null	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
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
R4640:Fam124b	UTSW	1	80213526	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'- TGCCCAATCTCTTGAACCCTGAAC -3'
(R):5'- ATCTTCTTGCCGACACTGGGAAC -3'

Sequencing Primer
(F):5'- AGAAGTCGCTCTTTTGCACAG -3'
(R):5'- CTACTAGAATGTATCTGCCCAGAGG -3'

Posted On

2014-03-14