Mutagenetix > Incidental Mutation

Incidental Mutation 'R9549:Fam83c'

720287

Institutional Source

Beutler Lab

Gene Symbol

Fam83c

Ensembl Gene

ENSMUSG00000074647

Gene Name

family with sequence similarity 83, member C

Synonyms

5530400B04Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9549 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

155671103-155676772 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 155676672 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 33 (I33L)

Ref Sequence

ENSEMBL: ENSMUSP00000029143 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029143]

AlphaFold

A2ARK0

Predicted Effect

SMART Domains

Protein: ENSMUSP00000029143
Gene: ENSMUSG00000074647
AA Change: I33L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	A	G	7: 78,742,076 (GRCm39)	Y491C	probably damaging	Het
B3gnt6	G	T	7: 97,843,656 (GRCm39)	D101E	possibly damaging	Het
Bnip5	A	T	17: 29,124,647 (GRCm39)	H9Q		Het
Ccnt1	A	G	15: 98,441,574 (GRCm39)	S565P	probably damaging	Het
Crebbp	T	C	16: 3,903,111 (GRCm39)	M2043V	probably benign	Het
Ehbp1	T	G	11: 22,012,788 (GRCm39)	D941A	probably benign	Het
Fam171b	G	T	2: 83,643,199 (GRCm39)	R36L	probably damaging	Het
Fbxo15	T	C	18: 84,980,805 (GRCm39)	V260A	possibly damaging	Het
Fez1	G	A	9: 36,780,211 (GRCm39)	G336E	possibly damaging	Het
Gm7579	CTGTGTG	CTGTG	7: 141,765,736 (GRCm39)		probably null	Het
Grip1	G	A	10: 119,874,569 (GRCm39)	E778K	possibly damaging	Het
Isoc2a	A	G	7: 4,895,058 (GRCm39)	E162G	probably damaging	Het
Lrig2	A	G	3: 104,398,191 (GRCm39)	S313P	probably damaging	Het
Lrrd1	T	A	5: 3,901,473 (GRCm39)	S593T	probably benign	Het
Lrrn1	A	G	6: 107,545,978 (GRCm39)	Y592C	probably damaging	Het
Map3k9	T	C	12: 81,771,255 (GRCm39)	T778A	probably benign	Het
Mapk14	T	A	17: 28,934,415 (GRCm39)	V102E	probably damaging	Het
Maz	A	G	7: 126,625,578 (GRCm39)	F5S	unknown	Het
Meioc	C	T	11: 102,556,550 (GRCm39)		probably benign	Het
Mlec	A	G	5: 115,288,271 (GRCm39)	V195A	probably benign	Het
Mlh3	T	C	12: 85,313,249 (GRCm39)	D979G	probably benign	Het
Mto1	G	A	9: 78,368,961 (GRCm39)	S541N	probably benign	Het
Mug1	G	A	6: 121,858,762 (GRCm39)	G1160E	probably damaging	Het
Nfkb2	T	A	19: 46,298,111 (GRCm39)	I496N	probably damaging	Het
Nr1h5	T	C	3: 102,848,337 (GRCm39)	D456G	probably benign	Het
Or5an11	T	A	19: 12,246,408 (GRCm39)	F271L	probably benign	Het
Paqr5	A	T	9: 61,863,543 (GRCm39)	C260S	possibly damaging	Het
Pip5k1b	C	A	19: 24,356,413 (GRCm39)	C175F	probably damaging	Het
Pkn1	T	C	8: 84,419,474 (GRCm39)	E43G	probably damaging	Het
Pld1	G	A	3: 28,125,381 (GRCm39)	E432K	possibly damaging	Het
Plekhb2	A	G	1: 34,902,552 (GRCm39)	D64G	probably benign	Het
Plekhh3	T	A	11: 101,056,015 (GRCm39)		probably null	Het
Prex2	A	T	1: 11,256,915 (GRCm39)	H1209L	probably damaging	Het
Rlf	T	C	4: 121,005,320 (GRCm39)	Y1330C	probably damaging	Het
Rmdn2	T	G	17: 79,935,339 (GRCm39)	S151A		Het
Sdk1	A	C	5: 141,940,657 (GRCm39)	D475A	possibly damaging	Het
Serpina1e	A	T	12: 103,917,243 (GRCm39)	L142Q	possibly damaging	Het
Setbp1	T	A	18: 78,902,629 (GRCm39)	D346V	probably benign	Het
Smg1	A	G	7: 117,795,254 (GRCm39)	L431P	unknown	Het
St13	G	A	15: 81,259,063 (GRCm39)	A207V	possibly damaging	Het
Thra	T	C	11: 98,653,772 (GRCm39)	I201T	probably benign	Het
Trim41	TTCCTCCTCCTCCTCCTCCTCCTCCTCC	TTCCTCCTCCTCCTCCTCCTCCTCC	11: 48,707,084 (GRCm39)		probably benign	Het
Trpm6	C	T	19: 18,853,394 (GRCm39)	Q1805*	probably null	Het
Uxs1	A	T	1: 43,810,892 (GRCm39)	Y231*	probably null	Het
Vash1	A	T	12: 86,735,870 (GRCm39)	D252V	probably damaging	Het
Vmn1r61	A	C	7: 5,614,185 (GRCm39)	V43G	probably damaging	Het
Vmn2r1	A	G	3: 63,997,493 (GRCm39)	H383R	probably benign	Het
Vmn2r105	T	C	17: 20,448,023 (GRCm39)	N267S	probably benign	Het
Zfp445	T	C	9: 122,685,844 (GRCm39)	E232G	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
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
R9642:Fam83c	UTSW	2	155,672,980 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CTTCGGAGATGACCTGAAGG -3'
(R):5'- CCCGACAATAGACAGACTGG -3'

Sequencing Primer
(F):5'- TGAAGGTAGGCAGCCTCTC -3'
(R):5'- AGACTGGGTGGGACTGACC -3'

Posted On

2022-07-18