Mutagenetix > Incidental Mutation

Incidental Mutation 'R8808:Fam205c'

672201

Institutional Source

Beutler Lab

Gene Symbol

Fam205c

Ensembl Gene

ENSMUSG00000050141

Gene Name

family with sequence similarity 205, member C

Synonyms

BC049635

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R8808 (G1)

Quality Score

153.475

Status

Not validated

Chromosome

Chromosomal Location

42868004-42874234 bp(-) (GRCm38)

Type of Mutation

small deletion (11 aa in frame mutation)

DNA Base Change (assembly)

TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG to TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG at 42871823 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000103612 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055944] [ENSMUST00000107978]

AlphaFold

Q80YD3

Predicted Effect

probably benign
Transcript: ENSMUST00000055944

SMART Domains

Protein: ENSMUSP00000060318
Gene: ENSMUSG00000050141

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
Pfam:DUF4599	51	139	2.7e-31	PFAM
internal_repeat_1	147	168	5.83e-10	PROSPERO
internal_repeat_1	180	201	5.83e-10	PROSPERO
low complexity region	278	289	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107978

SMART Domains

Protein: ENSMUSP00000103612
Gene: ENSMUSG00000050141

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
Pfam:DUF4599	52	138	3.4e-28	PFAM
internal_repeat_1	147	168	5.79e-10	PROSPERO
internal_repeat_1	180	201	5.79e-10	PROSPERO
low complexity region	278	289	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

95% (60/63)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	C	T	3: 138,070,113	P1688S	probably benign	Het
4933412E24Rik	T	C	15: 60,016,070	T174A	probably benign	Het
Actl10	T	A	2: 154,553,148	L340Q	probably damaging	Het
Adra1d	T	C	2: 131,561,477	E231G	probably damaging	Het
Agt	T	A	8: 124,564,289	D93V	probably benign	Het
Als2cl	G	T	9: 110,889,214	R341L	possibly damaging	Het
Ankrd63	G	T	2: 118,703,068	A124E	unknown	Het
Aqp8	T	C	7: 123,466,699	L239P	probably damaging	Het
Arhgef11	A	G	3: 87,686,029	E85G	probably damaging	Het
Cacng4	T	A	11: 107,794,383	I28F	possibly damaging	Het
Cc2d1a	T	C	8: 84,134,970	D741G	probably damaging	Het
Cct8l1	T	A	5: 25,517,212	N308K	possibly damaging	Het
Cd300ld2	CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG	CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG	11: 115,012,431		probably benign	Het
Chrna5	T	A	9: 54,998,064	D53E	probably benign	Het
Dap3	A	T	3: 88,928,207		probably null	Het
Disp2	A	G	2: 118,790,008	Y407C	probably damaging	Het
Dnah1	A	G	14: 31,286,814	M2001T	probably benign	Het
Dysf	C	G	6: 84,019,484		probably benign	Het
Eif2ak1	A	T	5: 143,879,446	K187N	probably damaging	Het
Ethe1	T	C	7: 24,595,071	S100P	probably damaging	Het
Fam186a	G	C	15: 99,944,723	I1213M	possibly damaging	Het
Gbp9	A	G	5: 105,085,009	F259S	probably damaging	Het
Heatr5b	G	A	17: 78,765,405	H1610Y	possibly damaging	Het
Hk2	T	A	6: 82,728,766	D852V	probably benign	Het
Hmcn1	T	A	1: 150,655,819	Q3233L	possibly damaging	Het
Htt	T	A	5: 34,889,447	V2369E	probably benign	Het
Il9	C	A	13: 56,482,129	E35*	probably null	Het
Itga8	A	T	2: 12,132,517	C933*	probably null	Het
Jak3	A	G	8: 71,685,520	K872E	possibly damaging	Het
Kcnmb2	A	C	3: 32,198,117	M156L	probably benign	Het
Kdm4a	C	T	4: 118,142,283	V981I	unknown	Het
Klhl38	A	T	15: 58,314,829	*582R	probably null	Het
Map3k19	A	G	1: 127,824,129	F495S	probably damaging	Het
Mpeg1	T	A	19: 12,463,079	W634R	probably damaging	Het
Mrpl4	T	A	9: 21,007,682	Y202N	possibly damaging	Het
Nme8	A	G	13: 19,675,808	V214A	probably damaging	Het
Olfr1080	G	A	2: 86,553,953	T57M	probably damaging	Het
Olfr1280	A	T	2: 111,315,894	R138S	possibly damaging	Het
Pcdhgb6	A	G	18: 37,743,398	I386M	possibly damaging	Het
Pitpnm1	T	A	19: 4,112,356	V1062E	possibly damaging	Het
Plekhm3	G	A	1: 64,883,196	R607W	possibly damaging	Het
Plppr2	TCGCC	TC	9: 21,944,431		probably benign	Het
Prap1	C	A	7: 140,097,069	H141Q	probably damaging	Het
Prep	T	A	10: 45,095,156	Y187*	probably null	Het
Rergl	T	G	6: 139,501,867	E3A	probably benign	Het
Rnf19a	A	T	15: 36,241,875	S673T	probably benign	Het
St18	G	A	1: 6,810,602	E440K	probably damaging	Het
Syne1	T	A	10: 5,359,074	Q645L	probably damaging	Het
Tmcc1	A	T	6: 116,134,137	V61E		Het
Tmcc1	C	A	6: 116,134,138	V61L		Het
Tmem135	G	C	7: 89,147,978	L357V	probably benign	Het
Tmem201	C	A	4: 149,729,681	R154L	possibly damaging	Het
Tmem71	G	A	15: 66,538,806	A239V	possibly damaging	Het
Tpgs2	A	G	18: 25,151,218	W78R	probably damaging	Het
Tssc4	T	C	7: 143,069,699	V22A	unknown	Het
Ttn	T	A	2: 76,867,195	L227F		Het
Ttn	T	A	2: 76,892,784	E6496D	unknown	Het
Vps50	G	T	6: 3,522,338	G169*	probably null	Het
Yy1	CGGCGACCACGGCGGCGGCGGGGGCG	CGGCG	12: 108,793,580		probably benign	Het
Zfp407	T	C	18: 84,343,060	K1703R	probably benign	Het
Zfp616	T	G	11: 74,085,697	C931G	probably damaging	Het
Zfp949	G	A	9: 88,569,364	C329Y	probably damaging	Het
Zswim5	T	A	4: 116,965,690	D452E	probably benign	Het

Other mutations in Fam205c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01548:Fam205c	APN	4	42868564	missense	probably benign	0.40
IGL01697:Fam205c	APN	4	42874163	missense	probably benign
IGL02413:Fam205c	APN	4	42868549	missense	probably damaging	0.99
IGL02450:Fam205c	APN	4	42874127	missense	probably benign
R0433:Fam205c	UTSW	4	42874013	splice site	probably benign
R1580:Fam205c	UTSW	4	42874020	splice site	probably null
R2042:Fam205c	UTSW	4	42874030	missense	possibly damaging	0.96
R2102:Fam205c	UTSW	4	42868558	missense	probably benign	0.00
R3824:Fam205c	UTSW	4	42873492	critical splice donor site	probably null
R4192:Fam205c	UTSW	4	42874185	utr 5 prime	probably benign
R4668:Fam205c	UTSW	4	42871608	missense	probably benign	0.00
R4690:Fam205c	UTSW	4	42873032	splice site	probably null
R5743:Fam205c	UTSW	4	42873087	missense	probably damaging	0.99
R5868:Fam205c	UTSW	4	42871711	missense	probably damaging	0.96
R6186:Fam205c	UTSW	4	42872000	missense	possibly damaging	0.95
R6778:Fam205c	UTSW	4	42868522	missense	possibly damaging	0.94
R6986:Fam205c	UTSW	4	42868696	missense	possibly damaging	0.90
R7318:Fam205c	UTSW	4	42871823	small deletion	probably benign
R7413:Fam205c	UTSW	4	42871823	small deletion	probably benign
R7675:Fam205c	UTSW	4	42871823	small deletion	probably benign
R7785:Fam205c	UTSW	4	42871823	small deletion	probably benign
R7842:Fam205c	UTSW	4	42871823	small deletion	probably benign
R8125:Fam205c	UTSW	4	42873051	missense	probably damaging	0.99
R8954:Fam205c	UTSW	4	42871753	missense	probably damaging	0.98
R9343:Fam205c	UTSW	4	42871823	small deletion	probably benign
R9620:Fam205c	UTSW	4	42871823	small deletion	probably benign
RF040:Fam205c	UTSW	4	42871823	small deletion	probably benign
X0052:Fam205c	UTSW	4	42874047	missense	possibly damaging	0.67

Predicted Primers

PCR Primer
(F):5'- CTGGAACGCATTTGACCCTTG -3'
(R):5'- AAAGACCTCTTCCAGTCTACTGAG -3'

Sequencing Primer
(F):5'- CCTTGAGGTTCCGGCTG -3'
(R):5'- GGCACTCCCGCAGCTTTTC -3'

Posted On

2021-04-30