Mutagenetix > Incidental Mutation

Incidental Mutation 'R8719:Fam83c'

669999

Institutional Source

Beutler Lab

Gene Symbol

Fam83c

Ensembl Gene

ENSMUSG00000074647

Gene Name

family with sequence similarity 83, member C

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

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

Stock #

R8719 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

155827548-155834854 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 155829208 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 769 (Q769L)

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: Q769L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000029143
Gene: ENSMUSG00000074647
AA Change: Q769L

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: 99.7%
20x: 99.2%

Validation Efficiency

100% (61/61)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl1	T	C	8: 46,513,663	I224T	probably benign	Het
Adamts20	C	G	15: 94,344,022	A702P	probably damaging	Het
Ahdc1	T	A	4: 133,064,222	Y925N	possibly damaging	Het
Anapc1	T	C	2: 128,641,449	E1242G	probably damaging	Het
Angptl2	A	G	2: 33,243,902	N412S	possibly damaging	Het
Aox3	T	C	1: 58,119,537	V89A	probably damaging	Het
Atxn1l	A	T	8: 109,733,229	S134T	possibly damaging	Het
Brf1	C	A	12: 112,979,684		probably benign	Het
Cab39l	A	T	14: 59,496,865	H11L	probably benign	Het
Cabcoco1	A	G	10: 68,436,841		probably benign	Het
Ccdc150	C	A	1: 54,263,509	P96Q	probably benign	Het
Chek2	T	C	5: 110,867,042	V459A	probably damaging	Het
Cntnap2	A	T	6: 46,001,227	D272V	probably damaging	Het
Cspp1	T	C	1: 10,090,291	S572P	possibly damaging	Het
Cysltr2	T	C	14: 73,029,671	T200A	possibly damaging	Het
Dglucy	T	C	12: 100,838,562	L104P	probably damaging	Het
Dnah8	T	A	17: 30,741,315	M2222K	probably damaging	Het
Dync2h1	C	A	9: 7,041,641	V3334F	probably benign	Het
Ear2	A	T	14: 44,103,277	T131S	possibly damaging	Het
Eef1akmt2	A	T	7: 132,850,611	V92D	probably damaging	Het
Fanca	A	T	8: 123,288,128	C812S	probably benign	Het
Gm21663	T	G	5: 25,941,164	R50S	probably damaging	Het
Gm5591	T	G	7: 38,522,190	S152R	probably benign	Het
Gm6370	T	G	5: 146,493,816	D270E	probably damaging	Het
H2-T22	T	C	17: 36,041,943	I91V	probably benign	Het
Hdac5	T	C	11: 102,207,137	M61V	probably benign	Het
Hsd17b6	A	G	10: 127,993,623	S237P	possibly damaging	Het
Khk	T	A	5: 30,931,030	F294I	possibly damaging	Het
Klc1	G	A	12: 111,806,075		probably benign	Het
Lamb3	T	C	1: 193,323,791	W143R	probably damaging	Het
Lmo2	T	C	2: 103,980,919	I171T	probably damaging	Het
Meis1	A	G	11: 18,885,587	S344P	probably benign	Het
Nf1	C	A	11: 79,390,293	R125S	possibly damaging	Het
Nrcam	A	G	12: 44,539,542	E105G	probably benign	Het
Nudt22	T	C	19: 6,995,270	D150G	possibly damaging	Het
Olfr1434	A	G	19: 12,283,428	I127V	probably benign	Het
Olfr1463	A	G	19: 13,234,472	Y74C	probably damaging	Het
Olfr761	T	C	17: 37,953,004	T7A	probably damaging	Het
Pclo	A	T	5: 14,713,764	R799*	probably null	Het
Pelp1	T	C	11: 70,401,963	N175S	probably damaging	Het
Perm1	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	4: 156,218,068		probably benign	Het
Pik3r4	C	A	9: 105,682,195	S1162R	probably benign	Het
Pkd1l3	A	T	8: 109,614,623	N36I	unknown	Het
Pomk	T	A	8: 25,983,475	Y150F	possibly damaging	Het
Rdh11	T	A	12: 79,182,800	H233L	probably benign	Het
Rln1	A	T	19: 29,331,881	M166K	probably benign	Het
Rnf40	T	A	7: 127,592,662	L356Q	probably damaging	Het
Sin3b	G	T	8: 72,723,511	G19W	unknown	Het
Slc6a15	A	G	10: 103,404,315	R300G	probably damaging	Het
Sncaip	A	T	18: 52,894,838	K433M	probably damaging	Het
Tead2	A	T	7: 45,232,892		probably benign	Het
Tespa1	A	G	10: 130,348,239	D63G	probably benign	Het
Tmem117	T	C	15: 95,094,367	F303L	probably damaging	Het
Tmem270	T	G	5: 134,901,796	T204P	probably damaging	Het
Trip12	A	G	1: 84,745,069	V1320A	probably damaging	Het
Ttc7b	A	G	12: 100,301,553	L843P	probably damaging	Het
Ttn	T	C	2: 76,712,697	Y33315C	probably damaging	Het
Ttn	A	G	2: 76,776,802	V17959A	possibly damaging	Het
Vmn2r73	A	G	7: 85,871,887	V291A	probably damaging	Het
Ywhag	T	A	5: 135,911,144	T199S	probably benign	Het
Zfp810	T	C	9: 22,279,275	T77A	probably benign	Het

Other mutations in Fam83c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01303:Fam83c	APN	2	155834442	missense	probably damaging	1.00
IGL01470:Fam83c	APN	2	155834808	missense	possibly damaging	0.73
IGL02695:Fam83c	APN	2	155831515	missense	probably benign	0.04
R0255:Fam83c	UTSW	2	155829752	missense	probably benign	0.00
R0321:Fam83c	UTSW	2	155829700	missense	probably benign
R0449:Fam83c	UTSW	2	155830295	missense	probably benign	0.00
R1596:Fam83c	UTSW	2	155831062	critical splice acceptor site	probably null
R1635:Fam83c	UTSW	2	155830051	missense	possibly damaging	0.95
R2006:Fam83c	UTSW	2	155830303	missense	probably benign	0.04
R2165:Fam83c	UTSW	2	155831524	missense	possibly damaging	0.94
R3840:Fam83c	UTSW	2	155834748	missense	probably benign
R3841:Fam83c	UTSW	2	155834748	missense	probably benign
R4693:Fam83c	UTSW	2	155830234	missense	probably damaging	1.00
R5660:Fam83c	UTSW	2	155829589	missense	probably benign	0.08
R6364:Fam83c	UTSW	2	155834523	missense	probably damaging	1.00
R6563:Fam83c	UTSW	2	155830952	missense	probably damaging	0.98
R6976:Fam83c	UTSW	2	155830237	missense	possibly damaging	0.63
R7124:Fam83c	UTSW	2	155829571	missense	probably benign	0.00
R7643:Fam83c	UTSW	2	155831004	missense	possibly damaging	0.93
R8088:Fam83c	UTSW	2	155831639	missense	probably damaging	0.98
R8113:Fam83c	UTSW	2	155834820	missense	probably benign	0.33
R8212:Fam83c	UTSW	2	155829287	missense	probably benign	0.00
R8710:Fam83c	UTSW	2	155829722	missense	probably benign	0.01
R9194:Fam83c	UTSW	2	155829379	missense	probably damaging	1.00
R9549:Fam83c	UTSW	2	155834752	missense
R9642:Fam83c	UTSW	2	155831060	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ACTCAGTAACTGTGGTGTGTTC -3'
(R):5'- CAAGTATCATCAGCTGCAGGG -3'

Sequencing Primer
(F):5'- TGTGTGTAAAAGAGTCTTGAGACC -3'
(R):5'- ATCAGCTGCAGGGTGCCAG -3'

Posted On

2021-04-30