Mutagenetix > Incidental Mutation

Incidental Mutation 'R7618:Fam124b'

588982

Institutional Source

Beutler Lab

Gene Symbol

Fam124b

Ensembl Gene

ENSMUSG00000043230

Gene Name

family with sequence similarity 124, member B

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

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

Stock #

R7618 (G1)

Quality Score

115.008

Status

Validated

Chromosome

Chromosomal Location

80198706-80218473 bp(-) (GRCm38)

Type of Mutation

start gained

DNA Base Change (assembly)

G to A at 80213837 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000052208 (fasta)

Gene Model

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

AlphaFold

Q8BLQ0

Predicted Effect

probably benign
Transcript: ENSMUST00000058748

SMART Domains

Protein: ENSMUSP00000052208
Gene: ENSMUSG00000043230

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

98% (51/52)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	C	11: 23,584,550	C602W	possibly damaging	Het
4930432K21Rik	A	G	8: 84,166,870	Q222R	possibly damaging	Het
Akap11	T	C	14: 78,498,860	D1830G		Het
Alms1	A	G	6: 85,678,417	N2846S	probably benign	Het
Amt	A	C	9: 108,299,878	E228D	probably damaging	Het
Ankar	T	C	1: 72,675,766	M618V	probably benign	Het
Ankrd60	T	C	2: 173,571,041		probably null	Het
Aoc1	A	G	6: 48,906,386	T399A	possibly damaging	Het
Aqp11	T	A	7: 97,737,666	I108F	probably benign	Het
Arfgef3	G	T	10: 18,646,281	Q666K	probably damaging	Het
Bin2	T	A	15: 100,645,013	R430W	probably damaging	Het
Cdh18	T	A	15: 23,366,970	V254D	probably damaging	Het
Cfap46	A	T	7: 139,603,239	S159R		Het
Clnk	A	T	5: 38,736,355	S220T	probably benign	Het
Col19a1	G	T	1: 24,322,084	H608Q	probably benign	Het
Cplx1	C	T	5: 108,525,529	E24K	possibly damaging	Het
Dnah3	A	T	7: 119,978,378	L2031Q	probably damaging	Het
Dok1	T	C	6: 83,032,891	E79G	probably benign	Het
Eif4g3	T	C	4: 138,171,118	S902P	probably damaging	Het
Emilin3	T	A	2: 160,909,279	E183D	probably benign	Het
Gm9195	T	C	14: 72,452,835	Y1816C	probably damaging	Het
Ighv5-9-1	T	A	12: 113,736,199	I98F	probably damaging	Het
Il31ra	G	A	13: 112,551,980	P21L	possibly damaging	Het
Kat6a	A	G	8: 22,862,562	I121V	possibly damaging	Het
Kif11	T	C	19: 37,411,560	W832R	probably benign	Het
Klhl9	T	C	4: 88,720,535	T490A	possibly damaging	Het
Lars	G	T	18: 42,244,891	A153E	probably benign	Het
Muc5b	A	T	7: 141,867,597	I4275L	probably benign	Het
Myo10	T	A	15: 25,726,475	C294*	probably null	Het
Nceh1	T	A	3: 27,183,217		probably null	Het
Ncf1	T	A	5: 134,227,267	T93S	probably benign	Het
Nfatc2	G	A	2: 168,534,999	R545C	probably damaging	Het
Nos1	C	T	5: 117,903,944	P545S	probably benign	Het
Ogfod3	C	A	11: 121,202,978	V69F	probably damaging	Het
Olfr1197	A	T	2: 88,728,836	Y254*	probably null	Het
Phf12	A	G	11: 78,026,134	N272S	unknown	Het
Prkcz	T	A	4: 155,262,482	I581F	probably damaging	Het
Rasgrf2	T	C	13: 91,987,966	H8R		Het
Rb1cc1	T	A	1: 6,265,558		probably null	Het
Rcor2	T	A	19: 7,271,046	M186K	possibly damaging	Het
Rnf111	C	A	9: 70,503,332		probably benign	Het
Serinc3	A	T	2: 163,630,969	F247Y	possibly damaging	Het
Serpina1c	T	A	12: 103,898,770	I206F	probably damaging	Het
Slc25a10	G	A	11: 120,496,971		probably null	Het
Syne2	T	G	12: 75,945,334	H1993Q	probably benign	Het
Tap1	A	G	17: 34,188,238	Y120C	possibly damaging	Het
Tex30	A	T	1: 44,088,250		probably null	Het
Ube2ql1	G	T	13: 69,738,947	Q132K	probably benign	Het
Unc13d	T	C	11: 116,066,721	N803D	probably damaging	Het
Vcan	G	A	13: 89,692,223	S1734F	probably damaging	Het
Wdfy4	T	C	14: 32,985,739	Y2630C		Het
Wdr93	A	G	7: 79,785,726	T668A	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
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
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'- CCAGTGTCGGCAAGAAGATG -3'
(R):5'- GTTGAATGTAAGAACCACCCAC -3'

Sequencing Primer
(F):5'- CAGTCAAGGCTAGAGGTTCCTGTATC -3'
(R):5'- ACTGGGCGTGGGTCTCAG -3'

Posted On

2019-10-24