Mutagenetix > Incidental Mutation

Incidental Mutation 'R6976:Fam83c'

542448

Institutional Source

Beutler Lab

Gene Symbol

Fam83c

Ensembl Gene

ENSMUSG00000074647

Gene Name

family with sequence similarity 83, member C

Synonyms

5530400B04Rik

MMRRC Submission

045382-MU

Accession Numbers

Essential gene?

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

Stock #

R6976 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

155671103-155676772 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 155672157 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 426 (Y426F)

Ref Sequence

ENSEMBL: ENSMUSP00000029143 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029142] [ENSMUST00000029143] [ENSMUST00000109638] [ENSMUST00000129830] [ENSMUST00000134278] [ENSMUST00000154841]

AlphaFold

A2ARK0

Predicted Effect

probably benign
Transcript: ENSMUST00000029142

SMART Domains

Protein: ENSMUSP00000029142
Gene: ENSMUSG00000027613

Domain	Start	End	E-Value	Type
eIF6	3	204	2.72e-136	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029143
AA Change: Y426F

PolyPhen 2 Score 0.625 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000029143
Gene: ENSMUSG00000074647
AA Change: Y426F

Domain	Start	End	E-Value	Type
Pfam:DUF1669	61	337	3.1e-107	PFAM
low complexity region	347	357	N/A	INTRINSIC
low complexity region	368	385	N/A	INTRINSIC
low complexity region	398	411	N/A	INTRINSIC
low complexity region	474	484	N/A	INTRINSIC
low complexity region	570	589	N/A	INTRINSIC
low complexity region	672	685	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109638

SMART Domains

Protein: ENSMUSP00000105266
Gene: ENSMUSG00000027613

Domain	Start	End	E-Value	Type
Pfam:eIF-6	3	70	1.2e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000129830

SMART Domains

Protein: ENSMUSP00000120206
Gene: ENSMUSG00000027613

Domain	Start	End	E-Value	Type
eIF6	3	68	4.5e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000134278

SMART Domains

Protein: ENSMUSP00000123190
Gene: ENSMUSG00000027613

Domain	Start	End	E-Value	Type
Pfam:eIF-6	1	58	5.1e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000154841

SMART Domains

Protein: ENSMUSP00000115715
Gene: ENSMUSG00000027613

Domain	Start	End	E-Value	Type
Pfam:eIF-6	3	45	7.8e-10	PFAM

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

100% (50/50)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss2	T	A	2: 155,397,929 (GRCm39)		probably null	Het
Adamts4	G	T	1: 171,079,877 (GRCm39)		probably benign	Het
Adgrv1	T	A	13: 81,669,116 (GRCm39)	K2480M	probably damaging	Het
Ankhd1	A	C	18: 36,781,307 (GRCm39)	S2120R	probably benign	Het
Ash1l	T	A	3: 88,888,964 (GRCm39)	V281E	possibly damaging	Het
Bdh1	G	A	16: 31,256,847 (GRCm39)	A35T	probably benign	Het
Brpf3	A	G	17: 29,054,751 (GRCm39)	M1098V	probably damaging	Het
Cel	G	A	2: 28,446,854 (GRCm39)	S439F	probably damaging	Het
Dnah11	T	C	12: 118,162,378 (GRCm39)	S64G	probably benign	Het
Dpp7	T	C	2: 25,244,836 (GRCm39)		probably null	Het
Fasn	A	G	11: 120,710,693 (GRCm39)	I322T	probably damaging	Het
Glod4	A	G	11: 76,134,406 (GRCm39)	F22S	probably damaging	Het
Gm3127	A	G	14: 15,432,190 (GRCm39)	T231A	possibly damaging	Het
Gm49383	A	G	12: 69,243,730 (GRCm39)	S444P	possibly damaging	Het
Gnaz	T	C	10: 74,827,268 (GRCm39)	S7P	possibly damaging	Het
Grin2b	C	T	6: 135,757,198 (GRCm39)	S421N	probably benign	Het
Grm1	T	C	10: 10,564,924 (GRCm39)	D1128G	probably benign	Het
Hoxb13	A	G	11: 96,087,044 (GRCm39)	T284A	probably benign	Het
Il9r	G	A	11: 32,143,177 (GRCm39)	Q260*	probably null	Het
Lrrfip1	T	A	1: 91,042,737 (GRCm39)	C381S	probably benign	Het
Mitd1	A	T	1: 37,921,778 (GRCm39)	D85E	probably benign	Het
Muc4	G	A	16: 32,582,892 (GRCm39)	D2556N	possibly damaging	Het
Nlrc4	A	G	17: 74,752,934 (GRCm39)	I483T	probably damaging	Het
Or13e8	A	G	4: 43,697,170 (GRCm39)	M1T	probably null	Het
Or2ag17	A	T	7: 106,389,434 (GRCm39)	M258K	probably damaging	Het
Or8g4	A	G	9: 39,662,540 (GRCm39)	N286S	probably damaging	Het
Pcdhb7	C	A	18: 37,476,631 (GRCm39)	A589E	probably benign	Het
Pcdhgb5	G	A	18: 37,864,321 (GRCm39)	E39K	probably damaging	Het
Pja2	T	C	17: 64,615,954 (GRCm39)	K314E	probably damaging	Het
Plcb1	A	G	2: 135,104,159 (GRCm39)	E276G	possibly damaging	Het
Ppp2r5c	A	G	12: 110,510,579 (GRCm39)	E122G	probably damaging	Het
Prrc2c	A	T	1: 162,520,413 (GRCm39)	N732K	probably damaging	Het
Rb1cc1	T	A	1: 6,333,126 (GRCm39)	D1348E	probably benign	Het
Sh3rf1	G	T	8: 61,814,766 (GRCm39)	E442*	probably null	Het
Snapc1	A	G	12: 74,016,974 (GRCm39)	D204G	probably damaging	Het
Sry	C	T	Y: 2,662,938 (GRCm39)	D241N	unknown	Het
Strn4	T	A	7: 16,564,279 (GRCm39)	M303K	probably benign	Het
Tas2r118	A	G	6: 23,969,470 (GRCm39)	I197T	probably benign	Het
Tnni3k	A	G	3: 154,498,413 (GRCm39)	Y809H	probably benign	Het
Tnpo3	A	T	6: 29,572,594 (GRCm39)	C419*	probably null	Het
Trpm6	T	C	19: 18,760,527 (GRCm39)	S143P	probably benign	Het
Ttc23l	A	T	15: 10,537,666 (GRCm39)	C201*	probably null	Het
Ubr4	A	G	4: 139,120,388 (GRCm39)	N271S	probably damaging	Het
Vmn1r70	T	C	7: 10,367,971 (GRCm39)	M134T	probably benign	Het
Vmn2r27	C	T	6: 124,201,312 (GRCm39)	W215*	probably null	Het
Xirp1	A	T	9: 119,846,984 (GRCm39)	M633K	probably damaging	Het
Zfp174	T	C	16: 3,665,804 (GRCm39)	I23T	possibly damaging	Het
Zfp536	T	A	7: 37,179,828 (GRCm39)	S926C	probably damaging	Het
Zfp943	T	C	17: 22,209,922 (GRCm39)	S65P	possibly damaging	Het

Other mutations in Fam83c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01303:Fam83c	APN	2	155,676,362 (GRCm39)	missense	probably damaging	1.00
IGL01470:Fam83c	APN	2	155,676,728 (GRCm39)	missense	possibly damaging	0.73
IGL02695:Fam83c	APN	2	155,673,435 (GRCm39)	missense	probably benign	0.04
R0255:Fam83c	UTSW	2	155,671,672 (GRCm39)	missense	probably benign	0.00
R0321:Fam83c	UTSW	2	155,671,620 (GRCm39)	missense	probably benign
R0449:Fam83c	UTSW	2	155,672,215 (GRCm39)	missense	probably benign	0.00
R1596:Fam83c	UTSW	2	155,672,982 (GRCm39)	critical splice acceptor site	probably null
R1635:Fam83c	UTSW	2	155,671,971 (GRCm39)	missense	possibly damaging	0.95
R2006:Fam83c	UTSW	2	155,672,223 (GRCm39)	missense	probably benign	0.04
R2165:Fam83c	UTSW	2	155,673,444 (GRCm39)	missense	possibly damaging	0.94
R3840:Fam83c	UTSW	2	155,676,668 (GRCm39)	missense	probably benign
R3841:Fam83c	UTSW	2	155,676,668 (GRCm39)	missense	probably benign
R4693:Fam83c	UTSW	2	155,672,154 (GRCm39)	missense	probably damaging	1.00
R5660:Fam83c	UTSW	2	155,671,509 (GRCm39)	missense	probably benign	0.08
R6364:Fam83c	UTSW	2	155,676,443 (GRCm39)	missense	probably damaging	1.00
R6563:Fam83c	UTSW	2	155,672,872 (GRCm39)	missense	probably damaging	0.98
R7124:Fam83c	UTSW	2	155,671,491 (GRCm39)	missense	probably benign	0.00
R7643:Fam83c	UTSW	2	155,672,924 (GRCm39)	missense	possibly damaging	0.93
R8088:Fam83c	UTSW	2	155,673,559 (GRCm39)	missense	probably damaging	0.98
R8113:Fam83c	UTSW	2	155,676,740 (GRCm39)	missense	probably benign	0.33
R8212:Fam83c	UTSW	2	155,671,207 (GRCm39)	missense	probably benign	0.00
R8710:Fam83c	UTSW	2	155,671,642 (GRCm39)	missense	probably benign	0.01
R8719:Fam83c	UTSW	2	155,671,128 (GRCm39)	missense	probably benign	0.00
R9194:Fam83c	UTSW	2	155,671,299 (GRCm39)	missense	probably damaging	1.00
R9549:Fam83c	UTSW	2	155,676,672 (GRCm39)	missense
R9642:Fam83c	UTSW	2	155,672,980 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TTCCACTGTCTCCAGAGCTG -3'
(R):5'- TTTGGACCTGCAGTTCCAAGC -3'

Sequencing Primer
(F):5'- ATTCTCTGGAAGCCGGGACAG -3'
(R):5'- AGTTCCAAGCGCCACAGG -3'

Posted On

2018-11-28