Mutagenetix > Incidental Mutation

Incidental Mutation 'R2134:Fam83b'

233643

Institutional Source

Beutler Lab

Gene Symbol

Fam83b

Ensembl Gene

ENSMUSG00000032358

Gene Name

family with sequence similarity 83, member B

Synonyms

C530008M07Rik

MMRRC Submission

040137-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R2134 (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 76491016 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 935 (Y935C)

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: Y935C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000096146
Gene: ENSMUSG00000032358
AA Change: Y935C

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: Y935C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000139354
Gene: ENSMUSG00000032358
AA Change: Y935C

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: 98.6%
10x: 97.3%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	T	11: 110,030,917 (GRCm38)	V1437E	probably null	Het
Adam12	G	A	7: 134,012,288 (GRCm38)	R80*	probably null	Het
Adgrb3	G	T	1: 25,093,957 (GRCm38)	F479L	probably damaging	Het
Atf7ip	T	A	6: 136,605,487 (GRCm38)	V1165E	possibly damaging	Het
Atm	C	T	9: 53,467,964 (GRCm38)		probably null	Het
Atp11c	A	G	X: 60,276,783 (GRCm38)	Y593H	probably damaging	Het
Btnl1	A	G	17: 34,385,634 (GRCm38)	D463G	possibly damaging	Het
Cdc34b	T	G	11: 94,742,426 (GRCm38)	W151G	probably damaging	Het
Cdkal1	A	G	13: 29,354,677 (GRCm38)	S500P	possibly damaging	Het
Cenpf	T	C	1: 189,658,642 (GRCm38)	N998D	probably benign	Het
Ces2e	T	A	8: 104,932,539 (GRCm38)		probably null	Het
Chd7	A	G	4: 8,753,147 (GRCm38)	Q548R	probably damaging	Het
Chfr	T	A	5: 110,144,761 (GRCm38)		probably null	Het
Clu	A	G	14: 65,974,841 (GRCm38)		probably null	Het
Cntnap5c	A	G	17: 58,407,722 (GRCm38)	D1235G	probably damaging	Het
Col6a4	T	C	9: 106,066,661 (GRCm38)	S1205G	probably benign	Het
Ddx47	G	T	6: 135,015,350 (GRCm38)	E113*	probably null	Het
Dock4	A	G	12: 40,745,668 (GRCm38)	Y828C	probably benign	Het
Dync1h1	T	A	12: 110,656,631 (GRCm38)	N3553K	possibly damaging	Het
Egflam	C	T	15: 7,234,279 (GRCm38)	C730Y	probably damaging	Het
Fam83g	A	G	11: 61,703,684 (GRCm38)	I681M	probably benign	Het
Fastk	T	C	5: 24,445,141 (GRCm38)	R3G	probably damaging	Het
Fxr1	A	T	3: 34,058,047 (GRCm38)	E367D	probably damaging	Het
Gatb	A	G	3: 85,611,370 (GRCm38)	D261G	probably damaging	Het
Gm5617	T	C	9: 48,495,817 (GRCm38)	S84P	possibly damaging	Het
Hecw1	C	T	13: 14,377,700 (GRCm38)	E104K	probably damaging	Het
Il31ra	T	C	13: 112,543,888 (GRCm38)	K265R	possibly damaging	Het
Khsrp	GTCATT	GT	17: 57,024,410 (GRCm38)		probably null	Het
Lrp2	T	A	2: 69,511,067 (GRCm38)	D923V	probably damaging	Het
Ltn1	A	G	16: 87,382,713 (GRCm38)	L1520P	probably damaging	Het
Magel2	G	A	7: 62,379,096 (GRCm38)	V583I	unknown	Het
Map1s	T	G	8: 70,913,882 (GRCm38)	V477G	probably benign	Het
Mical1	T	C	10: 41,482,712 (GRCm38)	L542P	probably damaging	Het
Mtcl3	T	A	10: 29,196,399 (GRCm38)	Y562*	probably null	Het
Mycbp2	T	C	14: 103,208,893 (GRCm38)	Y1800C	probably damaging	Het
Mylk	A	T	16: 34,986,476 (GRCm38)	D1697V	probably benign	Het
Nlrp1a	A	T	11: 71,124,188 (GRCm38)	F79I	probably benign	Het
Or52d3	T	C	7: 104,579,641 (GRCm38)		probably benign	Het
Pde9a	A	G	17: 31,386,310 (GRCm38)	Y6C	probably damaging	Het
Plxnd1	A	T	6: 115,957,548 (GRCm38)	I1808N	probably damaging	Het
Ppp1r13b	T	A	12: 111,833,733 (GRCm38)	T537S	probably benign	Het
Ppp2r2a	A	G	14: 67,016,475 (GRCm38)	F415L	possibly damaging	Het
Rabgap1	C	T	2: 37,563,487 (GRCm38)	R976*	probably null	Het
Rbfox3	T	C	11: 118,497,016 (GRCm38)	H195R	probably damaging	Het
Ripk4	A	T	16: 97,743,733 (GRCm38)	D571E	probably damaging	Het
Sdhaf4	T	A	1: 24,005,553 (GRCm38)	R16S	probably benign	Het
Slc17a1	G	T	13: 23,875,675 (GRCm38)	G130*	probably null	Het
Slc6a1	G	T	6: 114,302,016 (GRCm38)	A23S	probably benign	Het
Slco1a8	T	C	6: 141,980,978 (GRCm38)	I541V	probably damaging	Het
Spock1	T	A	13: 57,436,139 (GRCm38)	Q321L	probably damaging	Het
Syne2	A	G	12: 75,952,786 (GRCm38)	I2318V	probably damaging	Het
Terf2ip	T	C	8: 112,011,639 (GRCm38)	V53A	possibly damaging	Het
Thrb	T	C	14: 18,033,487 (GRCm38)	F403L	probably benign	Het
Tktl2	G	A	8: 66,512,347 (GRCm38)	V186M	probably damaging	Het
Uqcrfs1	T	C	13: 30,540,804 (GRCm38)	K251R	probably benign	Het
Vmn2r111	T	C	17: 22,573,104 (GRCm38)	E57G	possibly damaging	Het
Vmn2r114	T	A	17: 23,291,763 (GRCm38)	Y581F	probably damaging	Het
Vps13d	A	G	4: 145,148,339 (GRCm38)	V1866A	probably benign	Het
Washc5	A	T	15: 59,369,234 (GRCm38)	F84Y	probably damaging	Het
Yars1	T	A	4: 129,197,199 (GRCm38)	Y28*	probably null	Het
Zfp638	A	G	6: 83,928,982 (GRCm38)	Y43C	probably damaging	Het
Zfp750	T	A	11: 121,513,932 (GRCm38)	H39L	probably damaging	Het
Zfr2	C	A	10: 81,242,901 (GRCm38)	S322R	probably damaging	Het
Zzef1	A	G	11: 72,880,624 (GRCm38)	D1644G	probably benign	Het

Other mutations in Fam83b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00236:Fam83b	APN	9	76,490,978 (GRCm38)	missense	probably benign	0.00
IGL01554:Fam83b	APN	9	76,502,121 (GRCm38)	missense	probably benign	0.33
IGL01694:Fam83b	APN	9	76,490,990 (GRCm38)	missense	probably benign	0.13
IGL02009:Fam83b	APN	9	76,492,322 (GRCm38)	missense	probably damaging	1.00
IGL02531:Fam83b	APN	9	76,492,000 (GRCm38)	missense	possibly damaging	0.61
IGL03328:Fam83b	APN	9	76,493,042 (GRCm38)	missense	probably benign	0.01
PIT4581001:Fam83b	UTSW	9	76,491,152 (GRCm38)	missense	probably damaging	1.00
R0110:Fam83b	UTSW	9	76,492,826 (GRCm38)	missense	possibly damaging	0.75
R0469:Fam83b	UTSW	9	76,492,826 (GRCm38)	missense	possibly damaging	0.75
R0510:Fam83b	UTSW	9	76,492,826 (GRCm38)	missense	possibly damaging	0.75
R0732:Fam83b	UTSW	9	76,492,928 (GRCm38)	nonsense	probably null
R0946:Fam83b	UTSW	9	76,491,397 (GRCm38)	missense	probably damaging	0.96
R0961:Fam83b	UTSW	9	76,491,295 (GRCm38)	missense	probably damaging	0.97
R1101:Fam83b	UTSW	9	76,545,670 (GRCm38)	missense	possibly damaging	0.68
R1200:Fam83b	UTSW	9	76,492,312 (GRCm38)	missense	probably damaging	1.00
R1248:Fam83b	UTSW	9	76,503,076 (GRCm38)	missense	probably benign	0.35
R1420:Fam83b	UTSW	9	76,492,612 (GRCm38)	missense	possibly damaging	0.94
R1429:Fam83b	UTSW	9	76,492,577 (GRCm38)	missense	probably benign
R1939:Fam83b	UTSW	9	76,493,080 (GRCm38)	missense	probably damaging	1.00
R1992:Fam83b	UTSW	9	76,492,022 (GRCm38)	missense	probably benign
R2102:Fam83b	UTSW	9	76,492,705 (GRCm38)	missense	probably damaging	0.96
R2398:Fam83b	UTSW	9	76,502,218 (GRCm38)	missense	probably damaging	1.00
R2878:Fam83b	UTSW	9	76,490,810 (GRCm38)	missense	probably damaging	1.00
R4092:Fam83b	UTSW	9	76,491,661 (GRCm38)	missense	probably benign	0.24
R4204:Fam83b	UTSW	9	76,503,053 (GRCm38)	missense	probably benign	0.09
R4537:Fam83b	UTSW	9	76,492,142 (GRCm38)	missense	probably benign	0.10
R4920:Fam83b	UTSW	9	76,491,868 (GRCm38)	missense	probably benign
R5456:Fam83b	UTSW	9	76,492,595 (GRCm38)	missense	probably benign
R5473:Fam83b	UTSW	9	76,491,500 (GRCm38)	missense	probably damaging	1.00
R5488:Fam83b	UTSW	9	76,545,599 (GRCm38)	missense	probably benign	0.05
R5489:Fam83b	UTSW	9	76,545,599 (GRCm38)	missense	probably benign	0.05
R5876:Fam83b	UTSW	9	76,491,850 (GRCm38)	missense	possibly damaging	0.92
R6150:Fam83b	UTSW	9	76,492,357 (GRCm38)	missense	probably damaging	1.00
R6374:Fam83b	UTSW	9	76,492,907 (GRCm38)	missense	probably benign	0.31
R6468:Fam83b	UTSW	9	76,502,131 (GRCm38)	nonsense	probably null
R6912:Fam83b	UTSW	9	76,490,932 (GRCm38)	missense	probably damaging	0.99
R7022:Fam83b	UTSW	9	76,502,112 (GRCm38)	frame shift	probably null
R7073:Fam83b	UTSW	9	76,545,749 (GRCm38)	missense	probably benign	0.18
R7356:Fam83b	UTSW	9	76,492,853 (GRCm38)	missense	probably benign	0.05
R7665:Fam83b	UTSW	9	76,490,875 (GRCm38)	missense	probably damaging	1.00
R7762:Fam83b	UTSW	9	76,492,432 (GRCm38)	missense	possibly damaging	0.87
R7790:Fam83b	UTSW	9	76,492,048 (GRCm38)	missense	probably benign	0.01
R7869:Fam83b	UTSW	9	76,492,144 (GRCm38)	missense	possibly damaging	0.78
R7879:Fam83b	UTSW	9	76,492,455 (GRCm38)	missense	possibly damaging	0.76
R7957:Fam83b	UTSW	9	76,491,985 (GRCm38)	missense	probably benign	0.00
R8067:Fam83b	UTSW	9	76,491,098 (GRCm38)	missense	probably benign
R8983:Fam83b	UTSW	9	76,493,075 (GRCm38)	missense	probably damaging	1.00
R9361:Fam83b	UTSW	9	76,492,794 (GRCm38)	missense	probably benign	0.03
R9405:Fam83b	UTSW	9	76,491,421 (GRCm38)	missense	possibly damaging	0.93
R9475:Fam83b	UTSW	9	76,491,803 (GRCm38)	missense	probably benign	0.31
R9656:Fam83b	UTSW	9	76,545,581 (GRCm38)	missense	probably benign	0.02
R9690:Fam83b	UTSW	9	76,491,220 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GGGCGTATGAATGATAAGCACC -3'
(R):5'- TTCCCAAGCTGAGGAAAGTAG -3'

Sequencing Primer
(F):5'- CCAGTCTTATAATTCAACATTGGGC -3'
(R):5'- GTAGAAGAATAGCGCCTTCTCCG -3'

Posted On

2014-10-01