Mutagenetix > Incidental Mutation

Incidental Mutation 'R1738:Coro6'

199884

Institutional Source

Beutler Lab

Gene Symbol

Coro6

Ensembl Gene

ENSMUSG00000020836

Gene Name

coronin 6

Synonyms

clipin E

MMRRC Submission

039770-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1738 (G1)

Quality Score

162

Status

Not validated

Chromosome

Chromosomal Location

77353237-77361310 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 77360251 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 407 (D407G)

Ref Sequence

ENSEMBL: ENSMUSP00000078703 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021190] [ENSMUST00000037593] [ENSMUST00000052515] [ENSMUST00000079770] [ENSMUST00000092892] [ENSMUST00000102493] [ENSMUST00000108391] [ENSMUST00000145934]

AlphaFold

Q920M5

Predicted Effect

probably benign
Transcript: ENSMUST00000021190
AA Change: D447G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000021190
Gene: ENSMUSG00000020836
AA Change: D447G

Domain	Start	End	E-Value	Type
DUF1899	4	68	7.45e-34	SMART
WD40	67	110	2.1e-7	SMART
WD40	120	160	2.07e-6	SMART
WD40	163	203	2.73e-6	SMART
DUF1900	257	391	1.19e-91	SMART
low complexity region	414	429	N/A	INTRINSIC
coiled coil region	430	463	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000037593

SMART Domains

Protein: ENSMUSP00000073584
Gene: ENSMUSG00000037907

Domain	Start	End	E-Value	Type
ANK	13	43	3.16e2	SMART
ANK	47	76	2.85e-5	SMART
ANK	80	109	1.17e2	SMART
Pfam:GPCR_chapero_1	163	491	5.5e-111	PFAM
UIM	503	522	1.81e-1	SMART
low complexity region	552	580	N/A	INTRINSIC
UIM	585	604	3.15e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000052515
AA Change: D408G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000056862
Gene: ENSMUSG00000020836
AA Change: D408G

Domain	Start	End	E-Value	Type
DUF1899	4	68	7.45e-34	SMART
WD40	67	110	2.1e-7	SMART
WD40	120	160	2.07e-6	SMART
WD40	163	203	2.73e-6	SMART
DUF1900	217	351	1.19e-91	SMART
low complexity region	374	389	N/A	INTRINSIC
coiled coil region	390	424	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000079770
AA Change: D407G

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000078703
Gene: ENSMUSG00000020836
AA Change: D407G

Domain	Start	End	E-Value	Type
DUF1899	4	68	7.45e-34	SMART
WD40	67	110	2.1e-7	SMART
WD40	120	160	2.07e-6	SMART
WD40	163	203	2.73e-6	SMART
DUF1900	217	351	1.19e-91	SMART
low complexity region	374	389	N/A	INTRINSIC
coiled coil region	390	423	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000092892

SMART Domains

Protein: ENSMUSP00000090568
Gene: ENSMUSG00000037907

Domain	Start	End	E-Value	Type
ANK	13	43	3.16e2	SMART
ANK	47	76	2.85e-5	SMART
ANK	80	109	1.17e2	SMART
Pfam:GPCR_chapero_1	163	490	3.2e-110	PFAM
UIM	503	522	1.81e-1	SMART
low complexity region	673	686	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000102493
AA Change: D447G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000099551
Gene: ENSMUSG00000020836
AA Change: D447G

Domain	Start	End	E-Value	Type
DUF1899	4	68	7.45e-34	SMART
WD40	67	110	2.1e-7	SMART
WD40	120	160	2.07e-6	SMART
WD40	163	203	2.73e-6	SMART
DUF1900	257	391	1.19e-91	SMART
low complexity region	414	429	N/A	INTRINSIC
coiled coil region	430	463	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108391
AA Change: D447G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000104028
Gene: ENSMUSG00000020836
AA Change: D447G

Domain	Start	End	E-Value	Type
DUF1899	4	68	7.45e-34	SMART
WD40	67	110	2.1e-7	SMART
WD40	120	160	2.07e-6	SMART
WD40	163	203	2.73e-6	SMART
DUF1900	257	391	1.19e-91	SMART
low complexity region	414	429	N/A	INTRINSIC
coiled coil region	430	463	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143872

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135227

Predicted Effect

probably benign
Transcript: ENSMUST00000145934

SMART Domains

Protein: ENSMUSP00000119633
Gene: ENSMUSG00000037907

Domain	Start	End	E-Value	Type
Pfam:GPCR_chapero_1	2	276	9.7e-90	PFAM
UIM	288	307	1.81e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000127291

SMART Domains

Protein: ENSMUSP00000118247
Gene: ENSMUSG00000037907

Domain	Start	End	E-Value	Type
Pfam:GPCR_chapero_1	1	120	9.7e-31	PFAM
low complexity region	121	133	N/A	INTRINSIC
low complexity region	184	200	N/A	INTRINSIC

Coding Region Coverage

1x: 97.5%
3x: 96.8%
10x: 94.7%
20x: 89.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	A	G	16: 4,682,475 (GRCm39)	Y202C	probably damaging	Het
Adamts16	G	A	13: 70,927,637 (GRCm39)		probably benign	Het
Adgrl3	T	G	5: 81,535,826 (GRCm39)	M155R	probably damaging	Het
Ak9	A	T	10: 41,211,917 (GRCm39)	Q218L	possibly damaging	Het
Akap13	G	A	7: 75,326,942 (GRCm39)	G647D	probably damaging	Het
Angptl3	A	G	4: 98,921,499 (GRCm39)	T206A	probably benign	Het
Arhgap19	A	G	19: 41,772,820 (GRCm39)	I291T	probably benign	Het
BC049715	C	T	6: 136,817,306 (GRCm39)	P182L	probably damaging	Het
Bsn	T	C	9: 107,984,133 (GRCm39)	D3307G	unknown	Het
Cby2	C	T	14: 75,830,497 (GRCm39)	M1I	probably null	Het
Ces2h	T	A	8: 105,745,697 (GRCm39)		probably null	Het
Ces4a	G	A	8: 105,864,729 (GRCm39)	G69S	probably damaging	Het
Col4a2	T	A	8: 11,496,238 (GRCm39)	F1620I	probably damaging	Het
Col6a3	T	C	1: 90,744,083 (GRCm39)	E88G	probably damaging	Het
Cpe	A	T	8: 65,064,475 (GRCm39)	F241L	probably damaging	Het
Csde1	A	G	3: 102,936,493 (GRCm39)		probably benign	Het
Cspg4b	T	G	13: 113,504,034 (GRCm39)	L179R	possibly damaging	Het
Dgki	A	G	6: 37,034,367 (GRCm39)	I361T	possibly damaging	Het
Dnah3	A	G	7: 119,634,582 (GRCm39)	V1298A	probably damaging	Het
Duox2	T	A	2: 122,123,895 (GRCm39)	I430F	probably damaging	Het
Gak	T	C	5: 108,764,842 (GRCm39)	Y153C	probably damaging	Het
Gal3st2	T	A	1: 93,802,318 (GRCm39)		probably null	Het
Gbp11	T	C	5: 105,474,510 (GRCm39)	N389D	probably benign	Het
Grm1	A	G	10: 10,812,163 (GRCm39)	V287A	probably damaging	Het
Hsp90ab1	T	C	17: 45,882,732 (GRCm39)	K36E	probably damaging	Het
Il24	T	A	1: 130,815,099 (GRCm39)		probably null	Het
Ino80d	T	C	1: 63,132,624 (GRCm39)	D13G	probably damaging	Het
Ipp	G	A	4: 116,387,618 (GRCm39)	V399I	probably benign	Het
Kank3	A	T	17: 34,036,168 (GRCm39)	D12V	probably damaging	Het
Lcn12	A	T	2: 25,383,263 (GRCm39)	S74R	probably damaging	Het
Mast3	T	C	8: 71,237,200 (GRCm39)	T637A	probably benign	Het
Nes	C	A	3: 87,883,728 (GRCm39)	Y662*	probably null	Het
Nudt13	A	T	14: 20,359,762 (GRCm39)	H163L	probably damaging	Het
Or1j17	T	C	2: 36,578,797 (GRCm39)	V261A	probably benign	Het
Or4a2	T	C	2: 89,248,362 (GRCm39)	T132A	probably benign	Het
Or4p7	G	A	2: 88,221,671 (GRCm39)	V27I	probably benign	Het
Or8k1	A	T	2: 86,048,060 (GRCm39)		probably null	Het
Pde6b	C	T	5: 108,578,425 (GRCm39)	R788*	probably null	Het
Pex13	A	G	11: 23,599,458 (GRCm39)	L351P	probably benign	Het
Phc1	A	G	6: 122,295,525 (GRCm39)	M942T	probably damaging	Het
Plch1	A	T	3: 63,626,659 (GRCm39)	D571E	probably benign	Het
Plec	C	T	15: 76,070,418 (GRCm39)	V931M	probably damaging	Het
Plekhh2	A	G	17: 84,874,125 (GRCm39)	N470S	possibly damaging	Het
Primpol	A	G	8: 47,060,873 (GRCm39)	S82P	probably damaging	Het
Prkg1	T	C	19: 30,764,322 (GRCm39)	D256G	possibly damaging	Het
Prune2	A	G	19: 17,102,374 (GRCm39)	E2511G	probably benign	Het
Rassf8	T	C	6: 145,761,034 (GRCm39)	I120T	probably benign	Het
Rfx4	G	A	10: 84,716,839 (GRCm39)		probably null	Het
Rtp2	A	T	16: 23,746,423 (GRCm39)	N69K	probably benign	Het
Sh3d19	A	T	3: 86,027,913 (GRCm39)	I597F	probably damaging	Het
Sorl1	T	A	9: 42,001,261 (GRCm39)	E246D	probably benign	Het
Tet2	T	A	3: 133,187,148 (GRCm39)	I1094L	probably benign	Het
Tlr4	A	T	4: 66,759,313 (GRCm39)	H702L	probably benign	Het
Tnfrsf14	T	C	4: 155,009,788 (GRCm39)	D47G	probably damaging	Het
Ttn	T	C	2: 76,777,157 (GRCm39)	Y1415C	probably damaging	Het
Vmn2r17	T	A	5: 109,576,377 (GRCm39)	F416Y	probably benign	Het
Vmn2r54	A	G	7: 12,369,815 (GRCm39)	S83P	probably benign	Het
Vtn	A	G	11: 78,390,422 (GRCm39)	D53G	possibly damaging	Het
Vwde	A	T	6: 13,190,723 (GRCm39)	V456D	probably damaging	Het
Wdr91	G	A	6: 34,861,243 (GRCm39)	P653L	probably damaging	Het
Ythdf1	G	A	2: 180,553,285 (GRCm39)	A283V	probably benign	Het
Zfp975	C	A	7: 42,312,373 (GRCm39)	W80L	probably benign	Het

Other mutations in Coro6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00952:Coro6	APN	11	77,359,291 (GRCm39)	missense	probably damaging	1.00
IGL01086:Coro6	APN	11	77,357,374 (GRCm39)	nonsense	probably null
IGL03184:Coro6	APN	11	77,354,779 (GRCm39)	missense	probably damaging	1.00
R0365:Coro6	UTSW	11	77,354,916 (GRCm39)	missense	probably benign	0.28
R1712:Coro6	UTSW	11	77,360,293 (GRCm39)	missense	probably benign	0.19
R2900:Coro6	UTSW	11	77,358,639 (GRCm39)	missense	probably benign
R3081:Coro6	UTSW	11	77,359,738 (GRCm39)	missense	probably damaging	1.00
R3700:Coro6	UTSW	11	77,358,129 (GRCm39)	missense	probably damaging	1.00
R4503:Coro6	UTSW	11	77,360,272 (GRCm39)	missense	probably benign	0.31
R4740:Coro6	UTSW	11	77,360,025 (GRCm39)	missense	possibly damaging	0.59
R4749:Coro6	UTSW	11	77,359,974 (GRCm39)	missense	probably damaging	1.00
R5501:Coro6	UTSW	11	77,358,622 (GRCm39)	missense	probably damaging	1.00
R5996:Coro6	UTSW	11	77,357,322 (GRCm39)	missense	probably benign	0.02
R6590:Coro6	UTSW	11	77,356,606 (GRCm39)	missense	probably benign	0.31
R6619:Coro6	UTSW	11	77,357,030 (GRCm39)	missense	possibly damaging	0.85
R6690:Coro6	UTSW	11	77,356,606 (GRCm39)	missense	probably benign	0.31
R7052:Coro6	UTSW	11	77,357,056 (GRCm39)	missense	probably benign	0.16
R7207:Coro6	UTSW	11	77,358,089 (GRCm39)	missense	possibly damaging	0.46
R7775:Coro6	UTSW	11	77,356,599 (GRCm39)	missense	probably benign	0.00
R8743:Coro6	UTSW	11	77,357,265 (GRCm39)	missense	probably damaging	0.98
R8865:Coro6	UTSW	11	77,359,917 (GRCm39)	missense	probably damaging	1.00
R9169:Coro6	UTSW	11	77,359,329 (GRCm39)	missense	probably damaging	1.00
R9384:Coro6	UTSW	11	77,360,218 (GRCm39)	missense	probably benign	0.32
X0064:Coro6	UTSW	11	77,359,434 (GRCm39)	critical splice donor site	probably null
Z1176:Coro6	UTSW	11	77,358,691 (GRCm39)	frame shift	probably null
Z1177:Coro6	UTSW	11	77,359,935 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTCATTTCGCTGAAGGAAGGCTAC -3'
(R):5'- TGCAGAGTTCCAGACCAAAAGCCG -3'

Sequencing Primer
(F):5'- TGAAGGAAGGCTACGTTCCC -3'
(R):5'- ATTGAGTCTGCAGTGTGCAGAG -3'

Posted On

2014-05-23