Mutagenetix > Incidental Mutation

Incidental Mutation 'R5456:Fam83b'

432760

Institutional Source

Beutler Lab

Gene Symbol

Fam83b

Ensembl Gene

ENSMUSG00000032358

Gene Name

family with sequence similarity 83, member B

Synonyms

C530008M07Rik

MMRRC Submission

043019-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R5456 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

76490054-76567116 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 76492595 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 409 (T409A)

Ref Sequence

ENSEMBL: ENSMUSP00000139354 (fasta)

Gene Model

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

AlphaFold

Q0VBM2

Predicted Effect

probably benign
Transcript: ENSMUST00000098546
AA Change: T409A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000096146
Gene: ENSMUSG00000032358
AA Change: T409A

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 benign
Transcript: ENSMUST00000183437
AA Change: T409A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000139354
Gene: ENSMUSG00000032358
AA Change: T409A

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: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot12	A	G	13: 91,741,640	D37G	probably damaging	Het
Adcy5	T	C	16: 35,298,522	F1081S	probably damaging	Het
Apmap	T	A	2: 150,590,069	I128L	probably benign	Het
Arhgap12	G	A	18: 6,112,170	Q65*	probably null	Het
Baat	C	T	4: 49,502,949	V58I	possibly damaging	Het
Bco2	T	C	9: 50,545,344		probably null	Het
Bend3	T	C	10: 43,510,546	Y312H	probably damaging	Het
Btnl2	A	T	17: 34,363,321	Y287F	probably benign	Het
Cd22	T	C	7: 30,876,039	I193V	probably benign	Het
Commd3	A	G	2: 18,674,157	E95G	probably damaging	Het
Dcbld1	A	G	10: 52,314,390	D215G	probably damaging	Het
Elfn1	A	G	5: 139,972,816	Y525C	probably damaging	Het
Fshr	T	A	17: 88,986,348	I301F	probably benign	Het
Hemgn	C	T	4: 46,396,571	V222M	probably damaging	Het
Igsf3	C	T	3: 101,427,221	H205Y	probably benign	Het
Mfsd1	T	C	3: 67,589,833	I147T	probably benign	Het
Mslnl	A	G	17: 25,743,159	D177G	probably damaging	Het
Nat2	G	A	8: 67,501,573	V112I	probably damaging	Het
Olfr1257	G	A	2: 89,881,258	G144E	probably damaging	Het
Olfr284	G	A	15: 98,340,365	A208V	probably benign	Het
Pabpc1l	T	C	2: 164,027,660	S127P	probably damaging	Het
Poln	A	T	5: 34,007,442	L845Q	possibly damaging	Het
Ppm1f	T	A	16: 16,923,746	D361E	probably damaging	Het
Rapgef5	T	A	12: 117,728,646		probably null	Het
Rarb	G	A	14: 16,436,843	T226I	probably damaging	Het
Sel1l3	T	C	5: 53,200,036	K205E	probably benign	Het
Sh3glb1	T	A	3: 144,709,353	I75L	probably benign	Het
Srgap1	G	A	10: 121,869,811	S236L	probably benign	Het
Tmco3	A	G	8: 13,319,815	Y609C	probably damaging	Het
Trhde	A	G	10: 114,486,760	V712A	possibly damaging	Het
Trim13	A	G	14: 61,605,074	D180G	possibly damaging	Het
Tst	T	C	15: 78,399,958	E223G	probably damaging	Het
Umodl1	A	G	17: 30,982,289	I397M	probably benign	Het
Usp31	T	C	7: 121,670,277	D481G	probably damaging	Het
Vps13c	T	A	9: 67,927,447	M1686K	possibly damaging	Het
Wdr83	T	C	8: 85,080,208	H81R	probably benign	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
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
R7869:Fam83b	UTSW	9	76492144	missense	possibly damaging	0.78
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'- TGTCCCGTTAAATGACCTGC -3'
(R):5'- TCAAAGGCAGAGGGATATATCCTC -3'

Sequencing Primer
(F):5'- CCGTTAAATGACCTGCGTACATTTG -3'
(R):5'- GGCAGAGGGATATATCCTCTAAATG -3'

Posted On

2016-10-06