Mutagenetix > Incidental Mutation

Incidental Mutation 'R0469:Fam83b'

43143

Institutional Source

Beutler Lab

Gene Symbol

Fam83b

Ensembl Gene

ENSMUSG00000032358

Gene Name

family with sequence similarity 83, member B

Synonyms

C530008M07Rik

MMRRC Submission

038669-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R0469 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

76397336-76474398 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 76400108 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Isoleucine at position 332 (L332I)

Ref Sequence

ENSEMBL: ENSMUSP00000139354 (fasta)

Gene Model

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

AlphaFold

Q0VBM2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098546
AA Change: L332I

PolyPhen 2 Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000096146
Gene: ENSMUSG00000032358
AA Change: L332I

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: L332I

PolyPhen 2 Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000139354
Gene: ENSMUSG00000032358
AA Change: L332I

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

Meta Mutation Damage Score

0.1026

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.2%
20x: 92.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	A	G	5: 105,125,482 (GRCm39)	I67T	probably damaging	Het
Acoxl	G	A	2: 127,722,423 (GRCm39)		probably null	Het
Adam10	T	A	9: 70,655,530 (GRCm39)	W333R	probably damaging	Het
Ahnak	C	T	19: 8,995,596 (GRCm39)	R5627*	probably null	Het
Alms1	A	T	6: 85,597,351 (GRCm39)	R1195*	probably null	Het
Arih2	T	A	9: 108,482,291 (GRCm39)	H490L	possibly damaging	Het
Arpc1b	T	A	5: 145,064,525 (GRCm39)	W361R	probably damaging	Het
B3gntl1	A	T	11: 121,563,851 (GRCm39)	V3D	probably benign	Het
Baiap2l1	T	C	5: 144,212,701 (GRCm39)	Y438C	probably damaging	Het
Bicc1	C	A	10: 70,915,045 (GRCm39)	R73L	probably benign	Het
Ccdc110	T	A	8: 46,388,194 (GRCm39)	N50K	probably benign	Het
Ccdc168	T	A	1: 44,100,257 (GRCm39)	K280N	possibly damaging	Het
Cep76	A	T	18: 67,767,850 (GRCm39)	N227K	probably benign	Het
Col6a4	A	T	9: 105,957,746 (GRCm39)	V26D	probably damaging	Het
Cpe	T	A	8: 65,064,501 (GRCm39)	I233F	probably damaging	Het
Cpsf2	T	C	12: 101,955,045 (GRCm39)	V272A	probably damaging	Het
Defa34	A	G	8: 22,155,988 (GRCm39)		probably null	Het
Dnah12	A	G	14: 26,520,856 (GRCm39)	R1892G	probably damaging	Het
Efr3b	G	T	12: 4,032,058 (GRCm39)	D183E	probably benign	Het
Epyc	A	G	10: 97,485,625 (GRCm39)	T22A	probably benign	Het
Fam83a	C	A	15: 57,873,322 (GRCm39)	Q384K	probably benign	Het
Ggn	C	T	7: 28,870,721 (GRCm39)	P47S	probably damaging	Het
Gli3	T	G	13: 15,899,370 (GRCm39)	L919R	probably damaging	Het
Golgb1	A	G	16: 36,751,997 (GRCm39)	I3144V	probably benign	Het
Gpr108	T	C	17: 57,542,358 (GRCm39)	D549G	possibly damaging	Het
Gpr39	C	T	1: 125,605,237 (GRCm39)	T55M	probably damaging	Het
Grk4	A	G	5: 34,873,557 (GRCm39)	T208A	probably damaging	Het
Gucy2e	T	C	11: 69,126,402 (GRCm39)	D326G	probably benign	Het
H2-Eb2	C	T	17: 34,553,218 (GRCm39)	Q135*	probably null	Het
Hectd4	T	A	5: 121,419,959 (GRCm39)	Y635N	possibly damaging	Het
Hectd4	G	A	5: 121,443,736 (GRCm39)	E1319K	possibly damaging	Het
Hnrnph3	T	A	10: 62,853,994 (GRCm39)	R41S	probably benign	Het
Hnrnph3	T	A	10: 62,855,279 (GRCm39)	D2V	probably damaging	Het
Hs3st2	T	C	7: 121,099,792 (GRCm39)	S213P	probably damaging	Het
Ikbkb	A	T	8: 23,161,651 (GRCm39)	C412*	probably null	Het
Kctd21	T	C	7: 96,996,748 (GRCm39)	F74L	probably damaging	Het
Krt23	T	A	11: 99,377,608 (GRCm39)	I133L	probably damaging	Het
Krt74	T	C	15: 101,671,751 (GRCm39)		noncoding transcript	Het
Lmtk3	T	A	7: 45,443,536 (GRCm39)	L740M	possibly damaging	Het
Lrrc10	T	A	10: 116,881,695 (GRCm39)	L123Q	probably damaging	Het
Map1a	A	T	2: 121,136,255 (GRCm39)	H2357L	probably benign	Het
Mcf2l	A	G	8: 13,047,337 (GRCm39)	D233G	probably damaging	Het
Mdn1	A	G	4: 32,738,619 (GRCm39)	N3524S	probably benign	Het
Msto1	A	G	3: 88,818,848 (GRCm39)	L269P	probably benign	Het
Naca	C	T	10: 127,880,659 (GRCm39)	A1897V	probably benign	Het
Or1j10	A	T	2: 36,267,474 (GRCm39)	I229F	probably benign	Het
Or4a39	A	T	2: 89,237,135 (GRCm39)	M96K	probably damaging	Het
Or5w15	A	G	2: 87,567,825 (GRCm39)	V281A	probably damaging	Het
Or8b12i	T	C	9: 20,082,561 (GRCm39)	Y102C	probably benign	Het
Pdzrn3	A	T	6: 101,128,014 (GRCm39)	I884N	probably damaging	Het
Phf24	G	T	4: 42,933,761 (GRCm39)	V48L	possibly damaging	Het
Pkn1	C	A	8: 84,398,953 (GRCm39)	C678F	probably damaging	Het
Pla2g4a	T	A	1: 149,716,398 (GRCm39)	M688L	possibly damaging	Het
Ppp1r3c	A	T	19: 36,711,617 (GRCm39)	F51Y	possibly damaging	Het
Psen2	T	C	1: 180,066,479 (GRCm39)	T153A	probably damaging	Het
Rbmx	C	T	X: 56,436,926 (GRCm39)		probably null	Het
Rbp3	A	G	14: 33,684,376 (GRCm39)	K1135R	possibly damaging	Het
Slco2b1	T	A	7: 99,310,743 (GRCm39)	M603L	probably benign	Het
Sncaip	A	G	18: 53,001,781 (GRCm39)	T101A	probably benign	Het
Ssh1	A	T	5: 114,084,766 (GRCm39)	D448E	probably benign	Het
Ssmem1	A	T	6: 30,519,547 (GRCm39)		probably null	Het
Stk11	T	C	10: 79,961,920 (GRCm39)	V47A	probably damaging	Het
Sv2b	T	G	7: 74,786,140 (GRCm39)	M427L	probably benign	Het
Syne1	A	G	10: 5,317,600 (GRCm39)	L498P	probably damaging	Het
Syne2	T	C	12: 75,900,923 (GRCm39)		probably null	Het
Taf6l	G	T	19: 8,755,885 (GRCm39)	H254Q	probably benign	Het
Tas2r123	T	C	6: 132,824,295 (GRCm39)	V64A	probably benign	Het
Tm9sf1	A	T	14: 55,878,886 (GRCm39)	F169I	possibly damaging	Het
Tmpo	A	C	10: 90,998,958 (GRCm39)	I276M	probably benign	Het
Tnnc1	A	G	14: 30,933,365 (GRCm39)	D149G	probably damaging	Het
Tpr	AAGAGAGAGAGAGAG	AAGAGAGAGAGAG	1: 150,299,418 (GRCm39)		probably null	Het
Traf3ip3	T	A	1: 192,860,539 (GRCm39)		probably null	Het
Trim55	G	T	3: 19,725,256 (GRCm39)	V258L	possibly damaging	Het
Trpm1	G	A	7: 63,873,506 (GRCm39)	G587D	probably damaging	Het
Ttn	A	G	2: 76,560,756 (GRCm39)	V29215A	probably damaging	Het
Ube2u	A	G	4: 100,343,870 (GRCm39)	I90V	probably benign	Het
Upb1	T	C	10: 75,250,917 (GRCm39)		probably null	Het
Vmn2r57	A	T	7: 41,077,216 (GRCm39)	S317T	possibly damaging	Het
Wdr73	G	A	7: 80,547,698 (GRCm39)	Q107*	probably null	Het
Zfp628	A	T	7: 4,922,732 (GRCm39)	Q318L	probably benign	Het

Other mutations in Fam83b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00236:Fam83b	APN	9	76,398,260 (GRCm39)	missense	probably benign	0.00
IGL01554:Fam83b	APN	9	76,409,403 (GRCm39)	missense	probably benign	0.33
IGL01694:Fam83b	APN	9	76,398,272 (GRCm39)	missense	probably benign	0.13
IGL02009:Fam83b	APN	9	76,399,604 (GRCm39)	missense	probably damaging	1.00
IGL02531:Fam83b	APN	9	76,399,282 (GRCm39)	missense	possibly damaging	0.61
IGL03328:Fam83b	APN	9	76,400,324 (GRCm39)	missense	probably benign	0.01
PIT4581001:Fam83b	UTSW	9	76,398,434 (GRCm39)	missense	probably damaging	1.00
R0110:Fam83b	UTSW	9	76,400,108 (GRCm39)	missense	possibly damaging	0.75
R0510:Fam83b	UTSW	9	76,400,108 (GRCm39)	missense	possibly damaging	0.75
R0732:Fam83b	UTSW	9	76,400,210 (GRCm39)	nonsense	probably null
R0946:Fam83b	UTSW	9	76,398,679 (GRCm39)	missense	probably damaging	0.96
R0961:Fam83b	UTSW	9	76,398,577 (GRCm39)	missense	probably damaging	0.97
R1101:Fam83b	UTSW	9	76,452,952 (GRCm39)	missense	possibly damaging	0.68
R1200:Fam83b	UTSW	9	76,399,594 (GRCm39)	missense	probably damaging	1.00
R1248:Fam83b	UTSW	9	76,410,358 (GRCm39)	missense	probably benign	0.35
R1420:Fam83b	UTSW	9	76,399,894 (GRCm39)	missense	possibly damaging	0.94
R1429:Fam83b	UTSW	9	76,399,859 (GRCm39)	missense	probably benign
R1939:Fam83b	UTSW	9	76,400,362 (GRCm39)	missense	probably damaging	1.00
R1992:Fam83b	UTSW	9	76,399,304 (GRCm39)	missense	probably benign
R2102:Fam83b	UTSW	9	76,399,987 (GRCm39)	missense	probably damaging	0.96
R2134:Fam83b	UTSW	9	76,398,298 (GRCm39)	missense	probably damaging	1.00
R2398:Fam83b	UTSW	9	76,409,500 (GRCm39)	missense	probably damaging	1.00
R2878:Fam83b	UTSW	9	76,398,092 (GRCm39)	missense	probably damaging	1.00
R4092:Fam83b	UTSW	9	76,398,943 (GRCm39)	missense	probably benign	0.24
R4204:Fam83b	UTSW	9	76,410,335 (GRCm39)	missense	probably benign	0.09
R4537:Fam83b	UTSW	9	76,399,424 (GRCm39)	missense	probably benign	0.10
R4920:Fam83b	UTSW	9	76,399,150 (GRCm39)	missense	probably benign
R5456:Fam83b	UTSW	9	76,399,877 (GRCm39)	missense	probably benign
R5473:Fam83b	UTSW	9	76,398,782 (GRCm39)	missense	probably damaging	1.00
R5488:Fam83b	UTSW	9	76,452,881 (GRCm39)	missense	probably benign	0.05
R5489:Fam83b	UTSW	9	76,452,881 (GRCm39)	missense	probably benign	0.05
R5876:Fam83b	UTSW	9	76,399,132 (GRCm39)	missense	possibly damaging	0.92
R6150:Fam83b	UTSW	9	76,399,639 (GRCm39)	missense	probably damaging	1.00
R6374:Fam83b	UTSW	9	76,400,189 (GRCm39)	missense	probably benign	0.31
R6468:Fam83b	UTSW	9	76,409,413 (GRCm39)	nonsense	probably null
R6912:Fam83b	UTSW	9	76,398,214 (GRCm39)	missense	probably damaging	0.99
R7022:Fam83b	UTSW	9	76,409,394 (GRCm39)	frame shift	probably null
R7073:Fam83b	UTSW	9	76,453,031 (GRCm39)	missense	probably benign	0.18
R7356:Fam83b	UTSW	9	76,400,135 (GRCm39)	missense	probably benign	0.05
R7665:Fam83b	UTSW	9	76,398,157 (GRCm39)	missense	probably damaging	1.00
R7762:Fam83b	UTSW	9	76,399,714 (GRCm39)	missense	possibly damaging	0.87
R7790:Fam83b	UTSW	9	76,399,330 (GRCm39)	missense	probably benign	0.01
R7869:Fam83b	UTSW	9	76,399,426 (GRCm39)	missense	possibly damaging	0.78
R7879:Fam83b	UTSW	9	76,399,737 (GRCm39)	missense	possibly damaging	0.76
R7957:Fam83b	UTSW	9	76,399,267 (GRCm39)	missense	probably benign	0.00
R8067:Fam83b	UTSW	9	76,398,380 (GRCm39)	missense	probably benign
R8983:Fam83b	UTSW	9	76,400,357 (GRCm39)	missense	probably damaging	1.00
R9361:Fam83b	UTSW	9	76,400,076 (GRCm39)	missense	probably benign	0.03
R9405:Fam83b	UTSW	9	76,398,703 (GRCm39)	missense	possibly damaging	0.93
R9475:Fam83b	UTSW	9	76,399,085 (GRCm39)	missense	probably benign	0.31
R9656:Fam83b	UTSW	9	76,452,863 (GRCm39)	missense	probably benign	0.02
R9690:Fam83b	UTSW	9	76,398,502 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGGGCAAGCCGATCAGCAAAAC -3'
(R):5'- GGTTCAGATAATCACAGGCCACCTC -3'

Sequencing Primer
(F):5'- CCCTTAATGAGGATGCTACACTGAG -3'
(R):5'- AGGCCACCTCGTAGAGTTATTTG -3'

Posted On

2013-05-23