Mutagenetix > Incidental Mutation

Incidental Mutation 'R6563:Fam83c'

522525

Institutional Source

Beutler Lab

Gene Symbol

Fam83c

Ensembl Gene

ENSMUSG00000074647

Gene Name

family with sequence similarity 83, member C

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R6563 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

155827548-155834854 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 155830952 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 295 (V295A)

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 damaging
Transcript: ENSMUST00000029143
AA Change: V295A

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000029143
Gene: ENSMUSG00000074647
AA Change: V295A

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

noncoding transcript
Transcript: ENSMUST00000138962

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141926

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: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

100% (39/39)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410131K14Rik	T	C	5: 118,258,982	V92A	possibly damaging	Het
Arhgap11a	A	T	2: 113,833,902	C679S	probably benign	Het
Atg4d	C	T	9: 21,268,460	L235F	possibly damaging	Het
Cyp2d22	A	T	15: 82,371,912	W174R	probably damaging	Het
Cyp4a14	T	A	4: 115,492,086	H259L	probably benign	Het
Dennd3	A	T	15: 73,544,380	H493L	probably damaging	Het
Diexf	C	A	1: 193,118,390	R374L	probably damaging	Het
Dnm1	T	A	2: 32,312,726	D759V	probably damaging	Het
Dvl1	T	A	4: 155,856,253	N443K	probably damaging	Het
Dync2h1	A	G	9: 7,120,819	V2156A	probably benign	Het
Enpp5	G	A	17: 44,085,264	G356S	probably damaging	Het
Ermp1	T	C	19: 29,623,778	D523G	probably damaging	Het
Gphn	T	C	12: 78,680,396		probably null	Het
Irs1	T	A	1: 82,288,407	N696I	probably damaging	Het
Kmt5c	A	G	7: 4,742,629	Y96C	probably damaging	Het
Krt77	G	T	15: 101,862,923	T315N	probably damaging	Het
L3mbtl3	A	C	10: 26,302,863		probably null	Het
Lama3	A	T	18: 12,537,766	Y2409F	probably damaging	Het
Lrrc9	A	G	12: 72,486,395		probably null	Het
Ltbp4	A	T	7: 27,309,063	N1273K	probably damaging	Het
Mfsd13b	G	A	7: 120,995,467	A321T	probably damaging	Het
Mvb12b	A	T	2: 33,825,116	H167Q	probably benign	Het
Myo1g	T	A	11: 6,517,146	N230Y	possibly damaging	Het
Olfr57	A	T	10: 79,035,217	R140S	possibly damaging	Het
Prkar2b	G	T	12: 31,993,786		probably null	Het
Pwwp2a	G	T	11: 43,705,765	A586S	possibly damaging	Het
Ryr1	A	G	7: 29,095,492	V1150A	possibly damaging	Het
Sh3bgr	A	G	16: 96,205,943		probably null	Het
Slk	T	C	19: 47,636,469		probably null	Het
Snx3	A	G	10: 42,526,036	E82G	possibly damaging	Het
Srcin1	A	T	11: 97,534,774	Y486N	possibly damaging	Het
Tecpr2	A	G	12: 110,929,087	E336G	probably benign	Het
Terf2ip	G	T	8: 112,018,202	V384F	probably damaging	Het
Tnn	T	A	1: 160,088,398	S1250C	probably damaging	Het
Tspoap1	A	G	11: 87,777,159	E1263G	possibly damaging	Het
Tubgcp5	A	G	7: 55,825,661	R932G	possibly damaging	Het
Vmn1r175	A	G	7: 23,808,605	I199T	possibly damaging	Het
Vmn1r225	C	T	17: 20,502,501	A68V	probably benign	Het
Vmn2r24	A	T	6: 123,804,178	N448Y	possibly damaging	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
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
R8719:Fam83c	UTSW	2	155829208	missense	probably benign	0.00
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'- TCATAACTAGAGTCGGGTCAAGG -3'
(R):5'- TGAGCTCCATTGTCCCAAG -3'

Sequencing Primer
(F):5'- ATGAGGGTCTCCAAAGCCCTTC -3'
(R):5'- TCCATTGTCCCAAGGCCAC -3'

Posted On

2018-06-06