Mutagenetix > Incidental Mutation

Incidental Mutation 'R7869:Fam83b'

607983

Institutional Source

Beutler Lab

Gene Symbol

Fam83b

Ensembl Gene

ENSMUSG00000032358

Gene Name

family with sequence similarity 83, member B

Synonyms

C530008M07Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R7869 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

76490054-76567116 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 76492144 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 559 (C559Y)

Ref Sequence

ENSEMBL: ENSMUSP00000096146 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098546] [ENSMUST00000183437]

AlphaFold

Q0VBM2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098546
AA Change: C559Y

PolyPhen 2 Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000096146
Gene: ENSMUSG00000032358
AA Change: C559Y

Domain	Start	End	E-Value	Type
Pfam:DUF1669	12	282	5.6e-109	PFAM
Pfam:PLDc_2	139	277	2.4e-12	PFAM
low complexity region	557	574	N/A	INTRINSIC
low complexity region	731	742	N/A	INTRINSIC
low complexity region	747	760	N/A	INTRINSIC
low complexity region	826	846	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000183437
AA Change: C559Y

PolyPhen 2 Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000139354
Gene: ENSMUSG00000032358
AA Change: C559Y

Domain	Start	End	E-Value	Type
Pfam:DUF1669	7	283	2.8e-111	PFAM
Pfam:PLDc_2	139	277	2.4e-9	PFAM
low complexity region	557	574	N/A	INTRINSIC
low complexity region	731	742	N/A	INTRINSIC
low complexity region	747	760	N/A	INTRINSIC
low complexity region	826	846	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	G	A	5: 113,184,135	R738C	possibly damaging	Het
Acot12	G	A	13: 91,771,725	V260M	probably benign	Het
Alkbh8	A	T	9: 3,359,503	H264L	probably damaging	Het
Arfgef2	C	T	2: 166,873,703	T1356I	probably damaging	Het
Arhgap27	A	T	11: 103,360,304	N199K	probably damaging	Het
Asic2	T	C	11: 81,967,998	R63G	probably damaging	Het
Aspa	T	A	11: 73,313,552	M197L	probably benign	Het
BC005537	C	T	13: 24,803,399	R7W	possibly damaging	Het
Brdt	A	T	5: 107,370,179	I723L	probably benign	Het
C2cd3	T	A	7: 100,469,491	F2312Y	probably damaging	Het
Cd19	T	C	7: 126,410,526	N456S	probably damaging	Het
Ceacam1	G	T	7: 25,476,529	A80E	probably damaging	Het
Cep135	T	C	5: 76,640,956	V1132A	probably benign	Het
Cep85	A	G	4: 134,132,298	C687R	probably damaging	Het
Cln5	A	G	14: 103,076,065	Y251C	probably damaging	Het
Crygc	A	G	1: 65,071,855	M91T	possibly damaging	Het
Ddt	T	C	10: 75,773,226	K33R	probably damaging	Het
Dhfr	G	A	13: 92,357,963	W58*	probably null	Het
Dhx40	T	C	11: 86,797,706	E297G	probably benign	Het
Dner	T	C	1: 84,383,881	Y669C	probably benign	Het
Dpys	G	T	15: 39,793,386	F428L	probably damaging	Het
Dspp	A	C	5: 104,175,665	T225P	probably damaging	Het
Elac2	A	G	11: 64,999,387	K656E	probably damaging	Het
Ern1	T	A	11: 106,459,019	R24*	probably null	Het
F2rl2	T	C	13: 95,701,011	I188T	probably damaging	Het
Fat1	T	G	8: 45,051,222	F4584C	probably benign	Het
Gabra6	G	A	11: 42,316,495	T254I	possibly damaging	Het
Garem1	T	C	18: 21,299,700	D24G	probably damaging	Het
Gas2l2	A	T	11: 83,421,990	L832*	probably null	Het
Gpr68	C	T	12: 100,879,238	D16N	probably benign	Het
Il17b	T	C	18: 61,692,409	I172T	probably damaging	Het
Ildr2	T	G	1: 166,309,292	S567A	probably benign	Het
Kalrn	A	G	16: 33,988,847	V2557A	probably damaging	Het
Kif1b	A	G	4: 149,184,376	S1627P	probably benign	Het
Kif5a	G	A	10: 127,243,474	T285M	probably damaging	Het
Lrif1	G	A	3: 106,733,143		probably null	Het
Lrrn2	C	T	1: 132,939,378	T727I	unknown	Het
Lsg1	T	C	16: 30,564,722	E560G	probably benign	Het
Map4k4	C	A	1: 39,974,044	Q100K	unknown	Het
Mipep	A	T	14: 60,802,936	R302W	probably damaging	Het
Morf4l1	G	T	9: 90,093,791	T316K	probably damaging	Het
Mov10	A	T	3: 104,804,678	V126E	probably damaging	Het
Muc2	T	A	7: 141,749,734	C559S		Het
Myh7	A	G	14: 54,989,073	Y410H	probably damaging	Het
Nf1	T	A	11: 79,418,588	Y433N	probably damaging	Het
Nmd3	T	C	3: 69,726,417	L79P	probably damaging	Het
Nol10	G	T	12: 17,358,238	S155I	probably null	Het
Olfr1208	T	C	2: 88,897,064	I178V	probably benign	Het
Olfr134	T	C	17: 38,175,939	L285P	possibly damaging	Het
Olfr1448	A	G	19: 12,919,547	I254T	probably benign	Het
Olfr668	T	A	7: 104,925,104	Y220F	probably damaging	Het
Pde3b	T	C	7: 114,494,687	S389P	probably benign	Het
Polr1c	C	T	17: 46,244,891	G188D	probably benign	Het
Prpf31	A	G	7: 3,630,860	M65V	probably benign	Het
Pum2	A	G	12: 8,713,595	T251A	probably benign	Het
Rabgap1	G	A	2: 37,487,130	V325I	probably benign	Het
Repin1	G	T	6: 48,597,345	E403*	probably null	Het
Rpl15	G	T	14: 18,269,017	Y203*	probably null	Het
Sac3d1	G	A	19: 6,118,426	P54L	possibly damaging	Het
Serpina3g	A	G	12: 104,240,251	I104V	probably benign	Het
Setd2	C	T	9: 110,550,014	Q966*	probably null	Het
Simc1	G	T	13: 54,503,900	D9Y	unknown	Het
Slc5a8	T	C	10: 88,921,705	L519S	probably benign	Het
Srcap	C	A	7: 127,539,194	Q1179K	possibly damaging	Het
Srd5a3	T	C	5: 76,147,736	L91P	probably damaging	Het
Stab1	T	C	14: 31,154,472	T887A	probably benign	Het
Sult2a6	A	G	7: 14,254,812	F8L	not run	Het
Thsd7a	A	T	6: 12,471,124	C498*	probably null	Het
Timp4	T	C	6: 115,250,394	I75V	probably benign	Het
Tspyl4	T	A	10: 34,298,100	M196K	probably damaging	Het
Ubr2	T	C	17: 46,991,008	E172G	probably benign	Het
Ubr5	G	A	15: 37,979,832	A2434V	probably null	Het
Unc13c	T	G	9: 73,694,877	L1362F	probably damaging	Het
Vmn2r11	A	G	5: 109,052,120	V489A	probably damaging	Het
Vps39	T	C	2: 120,339,394	T226A	possibly damaging	Het
Zan	C	T	5: 137,473,601	E185K	probably damaging	Het

Other mutations in Fam83b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00236:Fam83b	APN	9	76490978	missense	probably benign	0.00
IGL01554:Fam83b	APN	9	76502121	missense	probably benign	0.33
IGL01694:Fam83b	APN	9	76490990	missense	probably benign	0.13
IGL02009:Fam83b	APN	9	76492322	missense	probably damaging	1.00
IGL02531:Fam83b	APN	9	76492000	missense	possibly damaging	0.61
IGL03328:Fam83b	APN	9	76493042	missense	probably benign	0.01
PIT4581001:Fam83b	UTSW	9	76491152	missense	probably damaging	1.00
R0110:Fam83b	UTSW	9	76492826	missense	possibly damaging	0.75
R0469:Fam83b	UTSW	9	76492826	missense	possibly damaging	0.75
R0510:Fam83b	UTSW	9	76492826	missense	possibly damaging	0.75
R0732:Fam83b	UTSW	9	76492928	nonsense	probably null
R0946:Fam83b	UTSW	9	76491397	missense	probably damaging	0.96
R0961:Fam83b	UTSW	9	76491295	missense	probably damaging	0.97
R1101:Fam83b	UTSW	9	76545670	missense	possibly damaging	0.68
R1200:Fam83b	UTSW	9	76492312	missense	probably damaging	1.00
R1248:Fam83b	UTSW	9	76503076	missense	probably benign	0.35
R1420:Fam83b	UTSW	9	76492612	missense	possibly damaging	0.94
R1429:Fam83b	UTSW	9	76492577	missense	probably benign
R1939:Fam83b	UTSW	9	76493080	missense	probably damaging	1.00
R1992:Fam83b	UTSW	9	76492022	missense	probably benign
R2102:Fam83b	UTSW	9	76492705	missense	probably damaging	0.96
R2134:Fam83b	UTSW	9	76491016	missense	probably damaging	1.00
R2398:Fam83b	UTSW	9	76502218	missense	probably damaging	1.00
R2878:Fam83b	UTSW	9	76490810	missense	probably damaging	1.00
R4092:Fam83b	UTSW	9	76491661	missense	probably benign	0.24
R4204:Fam83b	UTSW	9	76503053	missense	probably benign	0.09
R4537:Fam83b	UTSW	9	76492142	missense	probably benign	0.10
R4920:Fam83b	UTSW	9	76491868	missense	probably benign
R5456:Fam83b	UTSW	9	76492595	missense	probably benign
R5473:Fam83b	UTSW	9	76491500	missense	probably damaging	1.00
R5488:Fam83b	UTSW	9	76545599	missense	probably benign	0.05
R5489:Fam83b	UTSW	9	76545599	missense	probably benign	0.05
R5876:Fam83b	UTSW	9	76491850	missense	possibly damaging	0.92
R6150:Fam83b	UTSW	9	76492357	missense	probably damaging	1.00
R6374:Fam83b	UTSW	9	76492907	missense	probably benign	0.31
R6468:Fam83b	UTSW	9	76502131	nonsense	probably null
R6912:Fam83b	UTSW	9	76490932	missense	probably damaging	0.99
R7022:Fam83b	UTSW	9	76502112	frame shift	probably null
R7073:Fam83b	UTSW	9	76545749	missense	probably benign	0.18
R7356:Fam83b	UTSW	9	76492853	missense	probably benign	0.05
R7665:Fam83b	UTSW	9	76490875	missense	probably damaging	1.00
R7762:Fam83b	UTSW	9	76492432	missense	possibly damaging	0.87
R7790:Fam83b	UTSW	9	76492048	missense	probably benign	0.01
R7879:Fam83b	UTSW	9	76492455	missense	possibly damaging	0.76
R7957:Fam83b	UTSW	9	76491985	missense	probably benign	0.00
R8067:Fam83b	UTSW	9	76491098	missense	probably benign
R8983:Fam83b	UTSW	9	76493075	missense	probably damaging	1.00
R9361:Fam83b	UTSW	9	76492794	missense	probably benign	0.03
R9405:Fam83b	UTSW	9	76491421	missense	possibly damaging	0.93
R9475:Fam83b	UTSW	9	76491803	missense	probably benign	0.31
R9656:Fam83b	UTSW	9	76545581	missense	probably benign	0.02
R9690:Fam83b	UTSW	9	76491220	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGTTGTTTAATTCTGCTCGGCC -3'
(R):5'- GACAATTCAGAAGTCCCACCTG -3'

Sequencing Primer
(F):5'- GTTTAATTCTGCTCGGCCATTTG -3'
(R):5'- GATTCAAATGGTTCCACCCTGGG -3'

Posted On

2019-12-20