Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00228:C1qtnf6'

2129

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

C1qtnf6

Ensembl Gene

ENSMUSG00000022440

Gene Name

C1q and tumor necrosis factor related protein 6

Synonyms

CTRP6, 2810036M19Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00228

Quality Score

Status

Chromosome

Chromosomal Location

78407546-78415616 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 78409094 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 251 (Y251C)

Ref Sequence

ENSEMBL: ENSMUSP00000023075 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023075] [ENSMUST00000229185] [ENSMUST00000230943]

AlphaFold

Q6IR41

Predicted Effect

probably damaging
Transcript: ENSMUST00000023075
AA Change: Y251C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000023075
Gene: ENSMUSG00000022440
AA Change: Y251C

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
low complexity region	82	104	N/A	INTRINSIC
C1Q	123	262	1.01e-11	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137827

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147093

Predicted Effect

probably benign
Transcript: ENSMUST00000229185

Predicted Effect

probably benign
Transcript: ENSMUST00000230943

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts6	G	A	13: 104,566,298 (GRCm39)	G731D	possibly damaging	Het
Adgre4	C	T	17: 56,109,135 (GRCm39)	L381F	probably damaging	Het
Baz2a	A	G	10: 127,960,804 (GRCm39)	T1538A	probably benign	Het
Cgn	T	C	3: 94,672,855 (GRCm39)	N941S	probably benign	Het
Clca4b	T	C	3: 144,638,152 (GRCm39)	I37V	probably benign	Het
Crtc1	T	C	8: 70,892,172 (GRCm39)	K13E	probably benign	Het
Cubn	A	G	2: 13,461,508 (GRCm39)	L673P	probably damaging	Het
Cyp4f18	C	T	8: 72,743,771 (GRCm39)	V395I	probably damaging	Het
Def8	A	G	8: 124,186,389 (GRCm39)	D400G	possibly damaging	Het
Dvl1	A	G	4: 155,938,155 (GRCm39)	D101G	possibly damaging	Het
Fbxw20	T	A	9: 109,063,770 (GRCm39)	M1L	probably damaging	Het
Gad2	C	T	2: 22,575,398 (GRCm39)	H501Y	probably benign	Het
Herc3	C	T	6: 58,851,248 (GRCm39)	P499L	probably damaging	Het
Kcnq4	G	A	4: 120,555,213 (GRCm39)	Q657*	probably null	Het
Kyat3	G	A	3: 142,432,018 (GRCm39)	V249I	probably damaging	Het
Med28	A	G	5: 45,680,812 (GRCm39)	E92G	probably damaging	Het
Mtcl3	T	A	10: 29,072,469 (GRCm39)	L587*	probably null	Het
Nup155	T	C	15: 8,150,939 (GRCm39)		probably benign	Het
Nxf1	T	C	19: 8,740,106 (GRCm39)	I91T	possibly damaging	Het
Or8g50	T	C	9: 39,648,795 (GRCm39)	I228T	probably damaging	Het
Orc5	T	A	5: 22,728,537 (GRCm39)	T305S	probably damaging	Het
Psme4	T	C	11: 30,765,710 (GRCm39)		probably null	Het
Rtca	A	G	3: 116,298,110 (GRCm39)	C100R	probably damaging	Het
Septin14	G	T	5: 129,760,715 (GRCm39)	H377N	probably benign	Het
Shcbp1l	A	T	1: 153,311,553 (GRCm39)	N258I	possibly damaging	Het
Shisa4	A	C	1: 135,301,023 (GRCm39)	S82R	probably damaging	Het
Slc38a10	C	T	11: 120,029,814 (GRCm39)	V167M	probably damaging	Het
Sp2	C	T	11: 96,845,387 (GRCm39)	R578H	probably damaging	Het
Spata18	G	A	5: 73,815,097 (GRCm39)	E69K	possibly damaging	Het
Srsf2	A	C	11: 116,743,096 (GRCm39)		probably benign	Het
Taf1b	T	A	12: 24,597,066 (GRCm39)	V335E	possibly damaging	Het
Tenm4	G	A	7: 96,517,216 (GRCm39)	V1399I	probably benign	Het
Topbp1	C	T	9: 103,222,142 (GRCm39)	R1338C	probably benign	Het
Ugt1a5	A	G	1: 88,094,162 (GRCm39)	E130G	probably benign	Het
Wdfy2	T	A	14: 63,181,526 (GRCm39)	S219T	probably damaging	Het
Zbtb38	C	A	9: 96,569,547 (GRCm39)	R512S	probably damaging	Het
Zfp574	T	C	7: 24,781,015 (GRCm39)	V679A	probably benign	Het

Other mutations in C1qtnf6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01534:C1qtnf6	APN	15	78,409,416 (GRCm39)	missense	probably benign	0.44
IGL02072:C1qtnf6	APN	15	78,411,551 (GRCm39)	nonsense	probably null
Santa	UTSW	15	78,409,092 (GRCm39)	splice site	probably null
R1524:C1qtnf6	UTSW	15	78,409,092 (GRCm39)	splice site	probably null
R1720:C1qtnf6	UTSW	15	78,411,640 (GRCm39)	missense	probably damaging	0.99
R2299:C1qtnf6	UTSW	15	78,409,542 (GRCm39)	missense	probably benign	0.00
R4271:C1qtnf6	UTSW	15	78,409,466 (GRCm39)	missense	probably benign	0.01
R5731:C1qtnf6	UTSW	15	78,411,514 (GRCm39)	missense	probably benign	0.00
R6118:C1qtnf6	UTSW	15	78,409,595 (GRCm39)	missense	probably damaging	0.99
R7140:C1qtnf6	UTSW	15	78,409,283 (GRCm39)	missense	probably benign	0.00
R7218:C1qtnf6	UTSW	15	78,411,574 (GRCm39)	missense	probably benign	0.00
R7317:C1qtnf6	UTSW	15	78,409,206 (GRCm39)	missense	probably damaging	1.00
R7438:C1qtnf6	UTSW	15	78,409,574 (GRCm39)	missense	probably benign
R7461:C1qtnf6	UTSW	15	78,411,549 (GRCm39)	missense	probably benign	0.00
R8122:C1qtnf6	UTSW	15	78,411,446 (GRCm39)	missense	probably benign	0.05
R8833:C1qtnf6	UTSW	15	78,409,574 (GRCm39)	missense	probably benign
R9084:C1qtnf6	UTSW	15	78,409,283 (GRCm39)	missense	probably damaging	0.99
R9104:C1qtnf6	UTSW	15	78,409,109 (GRCm39)	missense	probably benign	0.32
R9391:C1qtnf6	UTSW	15	78,415,516 (GRCm39)	missense	unknown
R9444:C1qtnf6	UTSW	15	78,411,544 (GRCm39)	missense	probably damaging	1.00
R9705:C1qtnf6	UTSW	15	78,411,493 (GRCm39)	missense	probably benign	0.00
X0022:C1qtnf6	UTSW	15	78,409,235 (GRCm39)	missense	probably damaging	1.00

Posted On

2011-12-09