Mutagenetix > Incidental Mutation

Incidental Mutation 'R2102:Fam83b'

230587

Institutional Source

Beutler Lab

Gene Symbol

Fam83b

Ensembl Gene

ENSMUSG00000032358

Gene Name

family with sequence similarity 83, member B

Synonyms

C530008M07Rik

MMRRC Submission

040106-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R2102 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

76397336-76474398 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 76399987 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 372 (I372N)

Ref Sequence

ENSEMBL: ENSMUSP00000139354 (fasta)

Gene Model

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

AlphaFold

Q0VBM2

Predicted Effect

probably damaging
Transcript: ENSMUST00000098546
AA Change: I372N

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000096146
Gene: ENSMUSG00000032358
AA Change: I372N

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

probably damaging
Transcript: ENSMUST00000183437
AA Change: I372N

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000139354
Gene: ENSMUSG00000032358
AA Change: I372N

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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 137,770,934 (GRCm39)	L41P	probably damaging	Het
Abca8a	G	T	11: 109,958,878 (GRCm39)	P749T	probably damaging	Het
Acad8	A	T	9: 26,896,861 (GRCm39)	Y199*	probably null	Het
Acot12	A	T	13: 91,908,096 (GRCm39)	I93L	probably benign	Het
Acsbg3	T	A	17: 57,191,949 (GRCm39)	Y542*	probably null	Het
Actn1	C	A	12: 80,230,291 (GRCm39)	R321L	probably benign	Het
Ap3s1	A	G	18: 46,887,469 (GRCm39)	E34G	possibly damaging	Het
Armh4	A	G	14: 50,011,459 (GRCm39)	Y83H	probably damaging	Het
Atp5f1a	T	C	18: 77,870,017 (GRCm39)	S533P	probably damaging	Het
Bcorl1	T	C	X: 47,458,081 (GRCm39)	V538A	probably benign	Het
Cdhr4	A	G	9: 107,875,206 (GRCm39)	T689A	probably damaging	Het
Cdk19	A	T	10: 40,355,726 (GRCm39)		probably benign	Het
Cobll1	G	T	2: 64,928,554 (GRCm39)	P923Q	probably damaging	Het
Cpt1a	T	C	19: 3,421,585 (GRCm39)	S456P	probably benign	Het
Cst11	T	C	2: 148,613,160 (GRCm39)	Y55C	probably damaging	Het
Ctif	T	G	18: 75,654,452 (GRCm39)	D358A	probably benign	Het
Cyp2d34	T	G	15: 82,500,974 (GRCm39)	E386A	probably benign	Het
Dcxr	A	G	11: 120,617,133 (GRCm39)	F104L	probably benign	Het
Dmbt1	G	T	7: 130,703,762 (GRCm39)	W1107C	probably damaging	Het
Dsg1a	A	T	18: 20,466,830 (GRCm39)	I567F	probably damaging	Het
Ednrb	T	A	14: 104,058,350 (GRCm39)	R318*	probably null	Het
Exd2	T	C	12: 80,527,377 (GRCm39)	I36T	possibly damaging	Het
Fbh1	A	G	2: 11,763,100 (GRCm39)	V518A	probably benign	Het
Fkbp5	T	C	17: 28,625,162 (GRCm39)	E308G	possibly damaging	Het
Foxl2	A	C	9: 98,838,282 (GRCm39)	Y190S	probably damaging	Het
Gab3	TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	X: 74,043,585 (GRCm39)		probably benign	Het
Galnt17	C	T	5: 131,114,831 (GRCm39)	R223Q	probably damaging	Het
Gm14496	G	A	2: 181,633,127 (GRCm39)	D37N	possibly damaging	Het
Gpr82	T	C	X: 13,532,274 (GRCm39)	V274A	probably benign	Het
Hsp90aa1	T	C	12: 110,660,566 (GRCm39)	N292S	probably damaging	Het
Ints1	C	T	5: 139,741,754 (GRCm39)	V1826M	possibly damaging	Het
Itgb4	A	G	11: 115,896,561 (GRCm39)	D1440G	probably benign	Het
Kdm3b	A	G	18: 34,963,200 (GRCm39)	D1552G	probably damaging	Het
Kel	G	A	6: 41,663,418 (GRCm39)	T702I	possibly damaging	Het
Klf3	T	C	5: 64,979,266 (GRCm39)	V36A	probably damaging	Het
Klhl23	A	T	2: 69,659,228 (GRCm39)	I418F	probably damaging	Het
Kndc1	A	T	7: 139,510,674 (GRCm39)	I1329L	probably benign	Het
Krtap2-4	T	C	11: 99,505,606 (GRCm39)		probably benign	Het
Krtap9-5	T	A	11: 99,840,270 (GRCm39)	C324S	unknown	Het
Lepr	T	C	4: 101,630,178 (GRCm39)	V631A	possibly damaging	Het
Lifr	T	C	15: 7,216,404 (GRCm39)	I793T	probably damaging	Het
Mcoln1	G	A	8: 3,561,731 (GRCm39)	R427H	probably damaging	Het
Mgat5b	G	A	11: 116,810,255 (GRCm39)		probably benign	Het
Mmp12	G	A	9: 7,349,802 (GRCm39)	V78M	probably damaging	Het
Mrgprb8	T	A	7: 48,038,634 (GRCm39)	L102M	possibly damaging	Het
Mybphl	A	G	3: 108,282,949 (GRCm39)	T246A	possibly damaging	Het
Myo7b	A	T	18: 32,133,031 (GRCm39)	F439L	probably damaging	Het
Myom1	A	T	17: 71,408,024 (GRCm39)	D1088V	probably damaging	Het
Nrcam	T	C	12: 44,623,471 (GRCm39)	F1004S	probably benign	Het
Palld	A	T	8: 61,986,467 (GRCm39)	M788K	possibly damaging	Het
Pappa	T	A	4: 65,234,465 (GRCm39)	Y1423*	probably null	Het
Pfkm	A	G	15: 98,027,171 (GRCm39)	K615E	probably damaging	Het
Pkd1l2	G	T	8: 117,808,208 (GRCm39)	D105E	probably damaging	Het
Plekha5	G	A	6: 140,518,603 (GRCm39)	A297T	probably damaging	Het
Plxnb1	T	A	9: 108,944,810 (GRCm39)	M2051K	probably damaging	Het
Ppp6r2	A	G	15: 89,162,949 (GRCm39)	T524A	probably damaging	Het
Psg26	T	C	7: 18,209,067 (GRCm39)	E447G	probably damaging	Het
Rab3gap2	A	G	1: 185,014,586 (GRCm39)	D1225G	probably benign	Het
Rep15	A	G	6: 146,934,403 (GRCm39)		probably null	Het
Rgl2	G	A	17: 34,152,314 (GRCm39)		probably null	Het
Rpl7a	T	G	2: 26,801,473 (GRCm39)	V55G	possibly damaging	Het
Rtp1	A	T	16: 23,250,108 (GRCm39)	I158F	probably benign	Het
Scaper	A	T	9: 55,819,334 (GRCm39)	V127E	probably benign	Het
Sele	T	A	1: 163,881,395 (GRCm39)	C501S	probably damaging	Het
Serpina11	C	T	12: 103,949,104 (GRCm39)	V358I	probably benign	Het
Slc16a4	A	G	3: 107,211,819 (GRCm39)		probably null	Het
Slco6c1	T	C	1: 97,055,656 (GRCm39)	I82V	probably benign	Het
Smarca5	T	C	8: 81,431,304 (GRCm39)	E971G	probably damaging	Het
Smr2	T	C	5: 88,256,595 (GRCm39)	L91P	probably damaging	Het
Spata31f3	T	A	4: 42,868,558 (GRCm39)	H355L	probably benign	Het
Spopfm2	A	T	3: 94,082,973 (GRCm39)	C279*	probably null	Het
Srrm2	A	G	17: 24,036,722 (GRCm39)		probably benign	Het
Sting1	A	T	18: 35,868,290 (GRCm39)	M270K	probably damaging	Het
Syne1	A	G	10: 5,006,514 (GRCm39)	W7980R	probably damaging	Het
Syne2	A	G	12: 76,074,853 (GRCm39)	T4598A	probably benign	Het
Tmem171	A	T	13: 98,828,851 (GRCm39)	F100I	probably damaging	Het
Tnfrsf10b	A	G	14: 70,013,546 (GRCm39)	T159A	probably benign	Het
Tph1	A	T	7: 46,309,834 (GRCm39)		probably null	Het
Trim46	A	T	3: 89,142,504 (GRCm39)	I638N	probably damaging	Het
Ubl7	G	A	9: 57,827,825 (GRCm39)	D171N	probably damaging	Het
Utp20	A	G	10: 88,608,779 (GRCm39)	Y1514H	probably damaging	Het
Vmn2r81	A	G	10: 79,129,334 (GRCm39)	I742V	probably damaging	Het
Xrcc2	A	T	5: 25,897,505 (GRCm39)	V148E	probably damaging	Het
Zbed3	A	G	13: 95,472,615 (GRCm39)	D13G	possibly damaging	Het
Zdhhc25	T	A	15: 88,484,962 (GRCm39)	L99Q	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
R0469: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
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'- GCCGATCAGCAAAACTCTGAG -3'
(R):5'- TCCGTTTCCAGCCAGAGAAAC -3'

Sequencing Primer
(F):5'- TCAGCAAAACTCTGAGCTGGTATG -3'
(R):5'- GCCAGAGAAACCTTTTTGGC -3'

Posted On

2014-09-18