Mutagenetix > Incidental Mutation

Incidental Mutation 'R8710:Fam83c'

669481

Institutional Source

Beutler Lab

Gene Symbol

Fam83c

Ensembl Gene

ENSMUSG00000074647

Gene Name

family with sequence similarity 83, member C

Synonyms

5530400B04Rik

MMRRC Submission

068564-MU

Accession Numbers

Essential gene?

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

Stock #

R8710 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

155671103-155676772 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 155671642 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 598 (S598P)

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

probably benign
Transcript: ENSMUST00000029143
AA Change: S598P

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000029143
Gene: ENSMUSG00000074647
AA Change: S598P

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

99% (68/69)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	A	G	5: 9,005,495 (GRCm39)	N1126S	probably damaging	Het
Ablim2	C	T	5: 36,030,518 (GRCm39)	A581V	possibly damaging	Het
Agpat5	T	A	8: 18,928,105 (GRCm39)	D223E	possibly damaging	Het
Anks3	A	C	16: 4,775,976 (GRCm39)	Y75*	probably null	Het
Ano5	T	G	7: 51,243,419 (GRCm39)	D847E	probably damaging	Het
Asb6	G	T	2: 30,717,072 (GRCm39)	T51K	probably benign	Het
Bahcc1	A	G	11: 120,174,953 (GRCm39)	E1702G	probably damaging	Het
Bend7	A	G	2: 4,767,925 (GRCm39)	M294V	probably benign	Het
Cadm1	T	A	9: 47,759,466 (GRCm39)	D392E	probably damaging	Het
Camkmt	T	C	17: 85,421,277 (GRCm39)		probably benign	Het
Cd300a	A	G	11: 114,785,501 (GRCm39)	T149A	probably benign	Het
Cd69	A	T	6: 129,246,573 (GRCm39)	W153R	possibly damaging	Het
Cdc25c	T	A	18: 34,882,666 (GRCm39)		probably benign	Het
Clnk	A	C	5: 38,931,940 (GRCm39)	C40W	possibly damaging	Het
Cthrc1	T	A	15: 38,947,821 (GRCm39)	L180Q	probably damaging	Het
Cyld	A	G	8: 89,436,523 (GRCm39)	N271S	probably damaging	Het
Dnah14	T	C	1: 181,517,876 (GRCm39)	I2070T	probably benign	Het
Dnah17	A	C	11: 117,932,973 (GRCm39)	L3595R	probably damaging	Het
Edrf1	A	G	7: 133,245,495 (GRCm39)	Y211C	probably damaging	Het
Efcab6	A	G	15: 83,902,849 (GRCm39)	I167T	probably benign	Het
Elavl3	A	T	9: 21,937,849 (GRCm39)	Y148N	probably damaging	Het
Ermardl2	A	T	17: 15,209,194 (GRCm39)	N342I	probably damaging	Het
Gm38119	ACTGCCACCACTGCTGCCACAGCAGCCACTGCTGCCACCACTGCTGCCACAGCAGCCACTGCTGCCACCACTACTGCCACAGCAGCCACTGCTGCCACCACTGCTGCCACA	ACTGCCACCACTGCTGCCACAGCAGCCACTGCTGCCACCACTACTGCCACAGCAGCCACTGCTGCCACCACTGCTGCCACA	3: 92,645,197 (GRCm39)		probably benign	Het
Helb	A	G	10: 119,941,872 (GRCm39)	L272P	probably damaging	Het
Iars2	A	C	1: 185,027,783 (GRCm39)	V715G	probably benign	Het
Iqgap2	T	G	13: 95,796,756 (GRCm39)	N1133H	probably benign	Het
Kifc5b	T	A	17: 27,139,880 (GRCm39)	M43K	probably damaging	Het
Krtap7-1	T	A	16: 89,305,008 (GRCm39)	Y48F	possibly damaging	Het
Lag3	G	A	6: 124,885,408 (GRCm39)	T324I	probably damaging	Het
Mapkapk2	C	A	1: 130,986,448 (GRCm39)	A97S	possibly damaging	Het
Mettl4	A	G	17: 95,041,072 (GRCm39)	S361P	probably damaging	Het
Myh4	A	G	11: 67,143,158 (GRCm39)	T1029A	probably benign	Het
Nsl1	C	A	1: 190,795,420 (GRCm39)	A62D	probably benign	Het
Oas1e	T	A	5: 120,930,027 (GRCm39)	K164*	probably null	Het
Obsl1	A	G	1: 75,469,326 (GRCm39)	F1205S	probably benign	Het
Or14j2	G	T	17: 37,885,540 (GRCm39)	A258E	probably benign	Het
Or1e1b-ps1	G	A	11: 73,845,694 (GRCm39)	M59I	possibly damaging	Het
Or8c15	C	T	9: 38,121,066 (GRCm39)	A237V	possibly damaging	Het
Or8g18	T	A	9: 39,149,306 (GRCm39)	Y138F	probably benign	Het
Pald1	A	G	10: 61,183,232 (GRCm39)	F334S	probably benign	Het
Pikfyve	A	G	1: 65,255,155 (GRCm39)	E325G	possibly damaging	Het
Plekha8	A	G	6: 54,599,245 (GRCm39)	T215A	probably benign	Het
Ptprq	T	C	10: 107,411,919 (GRCm39)	R1816G	possibly damaging	Het
Ralgps1	G	A	2: 33,035,433 (GRCm39)	L472F	probably damaging	Het
Rasal1	A	T	5: 120,801,002 (GRCm39)	T221S	probably benign	Het
Rfx6	A	G	10: 51,601,501 (GRCm39)	T607A	probably damaging	Het
Rnf214	T	A	9: 45,778,748 (GRCm39)		probably benign	Het
Rtca	A	T	3: 116,291,303 (GRCm39)	Y226N	probably benign	Het
Sash1	T	A	10: 8,656,285 (GRCm39)	N236Y	possibly damaging	Het
Skint11	A	G	4: 114,051,951 (GRCm39)	I100V	probably benign	Het
Skint5	A	T	4: 113,483,787 (GRCm39)	S948R	unknown	Het
Slc25a13	A	T	6: 6,114,238 (GRCm39)	Y279N	probably benign	Het
Slc5a2	T	C	7: 127,864,966 (GRCm39)	L33P	probably damaging	Het
Slco1a5	A	T	6: 142,198,828 (GRCm39)	V279E	probably benign	Het
Ssh3	G	T	19: 4,313,833 (GRCm39)	H475Q	probably benign	Het
Tapt1	A	G	5: 44,351,743 (GRCm39)	S107P	probably benign	Het
Tjp2	T	C	19: 24,072,796 (GRCm39)	E1166G	probably damaging	Het
Tll1	A	G	8: 64,577,940 (GRCm39)	L89P	possibly damaging	Het
Tmc4	G	T	7: 3,678,463 (GRCm39)	T123N	probably benign	Het
Tmem139	A	G	6: 42,241,021 (GRCm39)	D202G	probably damaging	Het
Trim35	T	C	14: 66,545,367 (GRCm39)	S313P	probably damaging	Het
Ttc23l	A	G	15: 10,540,021 (GRCm39)	I154T	probably damaging	Het
Ttc9c	T	C	19: 8,795,860 (GRCm39)	T60A	probably benign	Het
Wdfy3	G	T	5: 102,030,349 (GRCm39)	N2386K	probably damaging	Het
Wdpcp	C	A	11: 21,610,924 (GRCm39)	Q49K	probably benign	Het
Xrn1	A	T	9: 95,884,285 (GRCm39)	Y867F		Het
Zfp423	C	T	8: 88,507,549 (GRCm39)	E932K	possibly damaging	Het
Zfp592	T	C	7: 80,673,321 (GRCm39)	F95S	probably damaging	Het
Zfp644	T	G	5: 106,782,997 (GRCm39)	N1095H	probably damaging	Het
Zfp983	A	T	17: 21,880,234 (GRCm39)	N54I	probably 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
R6976:Fam83c	UTSW	2	155,672,157 (GRCm39)	missense	possibly damaging	0.63
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
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'- TCCAATTGACTGTGACCTAGGG -3'
(R):5'- ATCCCTGAGCCAAAGCCATG -3'

Sequencing Primer
(F):5'- GTCTGCCGTCGGTCATCTAGAC -3'
(R):5'- AGCCATGACCACCTGGATCG -3'

Posted On

2021-04-30