Mutagenetix > Incidental Mutation

Incidental Mutation 'R8865:Coro6'

675878

Institutional Source

Beutler Lab

Gene Symbol

Coro6

Ensembl Gene

ENSMUSG00000020836

Gene Name

coronin 6

Synonyms

clipin E

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8865 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

77462411-77470484 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 77469091 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 366 (T366K)

Ref Sequence

ENSEMBL: ENSMUSP00000021190 (fasta)

Gene Model

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

AlphaFold

Q920M5

Predicted Effect

probably damaging
Transcript: ENSMUST00000021190
AA Change: T366K

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

SMART Domains

Protein: ENSMUSP00000021190
Gene: ENSMUSG00000020836
AA Change: T366K

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 damaging
Transcript: ENSMUST00000052515
AA Change: T326K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000056862
Gene: ENSMUSG00000020836
AA Change: T326K

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 damaging
Transcript: ENSMUST00000079770
AA Change: T326K

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000078703
Gene: ENSMUSG00000020836
AA Change: T326K

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

SMART Domains

Protein: ENSMUSP00000099551
Gene: ENSMUSG00000020836
AA Change: T366K

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 damaging
Transcript: ENSMUST00000108391
AA Change: T366K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000104028
Gene: ENSMUSG00000020836
AA Change: T366K

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: 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

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (72/72)

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts2	T	A	11: 50,781,744	Y606*	probably null	Het
Adgrb1	A	G	15: 74,543,658	I696V	possibly damaging	Het
Ass1	A	G	2: 31,520,395	Q406R	probably benign	Het
Calcoco2	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	11: 96,099,982		probably benign	Het
Ccdc148	T	C	2: 58,829,820	K409R	possibly damaging	Het
Ccnl1	A	T	3: 65,946,848	S451T	probably benign	Het
Cdc123	T	C	2: 5,795,424		probably benign	Het
Cep192	T	C	18: 67,834,632	V729A	probably benign	Het
Chd6	G	A	2: 161,021,069	A444V	probably benign	Het
Chl1	A	G	6: 103,708,861	K898E	probably damaging	Het
Chrng	T	C	1: 87,207,497	V154A	probably damaging	Het
Cog1	T	G	11: 113,658,498	M799R	probably benign	Het
Col4a3	G	A	1: 82,669,762		probably null	Het
Cwh43	G	A	5: 73,441,359	M640I	probably benign	Het
Cyp2c55	A	G	19: 39,031,434	E272G	probably benign	Het
Cyp4f39	A	G	17: 32,483,297	Y256C	probably damaging	Het
Dbx2	G	A	15: 95,632,400	R229*	probably null	Het
Dcdc2a	C	T	13: 25,202,283	A380V	probably benign	Het
En1	G	T	1: 120,603,000		probably benign	Het
F3	T	A	3: 121,729,411	V90E	probably damaging	Het
Fam171a1	A	G	2: 3,225,903	K691R	probably damaging	Het
Foxp2	C	T	6: 15,415,094	A609V	unknown	Het
Hemgn	A	T	4: 46,396,682	S185T	possibly damaging	Het
Hk1	C	T	10: 62,315,515	D33N	probably benign	Het
Igfbp1	T	A	11: 7,201,929	V244D	probably damaging	Het
Insr	A	T	8: 3,161,358	D1160E	probably damaging	Het
Irs1	A	T	1: 82,288,109	Y795*	probably null	Het
Krtap28-10	T	C	1: 83,042,087	K111E	unknown	Het
Lbx1	T	G	19: 45,235,166	D21A	probably benign	Het
Map6	G	T	7: 99,268,985	A322S	probably benign	Het
Mat1a	T	C	14: 41,121,831	Y336H	probably damaging	Het
Mcf2l	A	G	8: 12,880,003	I8V	probably benign	Het
Med12l	T	C	3: 59,071,882	V276A	probably benign	Het
Mettl17	A	G	14: 51,884,851		probably benign	Het
Mllt1	T	C	17: 56,900,295	D183G	possibly damaging	Het
Msmb	T	A	14: 32,150,260	C69*	probably null	Het
Mterf1a	A	G	5: 3,891,425	S148P	probably damaging	Het
Mybl2	A	G	2: 163,080,733	I583V	probably benign	Het
Nbr1	T	A	11: 101,564,694	D91E	probably benign	Het
Notch3	A	G	17: 32,122,116	Y2221H	probably benign	Het
Npat	C	A	9: 53,570,640	T1216N	probably benign	Het
Olfr1082	C	A	2: 86,594,400	V143F	possibly damaging	Het
Olfr127	T	C	17: 37,904,224	L226P	probably damaging	Het
Olfr137	T	A	17: 38,304,981	H160L	probably damaging	Het
Pawr	T	A	10: 108,382,742	Y170N	probably damaging	Het
Pde12	T	C	14: 26,669,125	D143G	possibly damaging	Het
Phactr2	A	G	10: 13,253,732	I264T	probably benign	Het
Pip5k1b	A	G	19: 24,397,058	L53P	probably damaging	Het
Pknox1	T	C	17: 31,599,546	I251T	probably benign	Het
Plcxd1	A	T	5: 110,101,975		probably benign	Het
Polr3c	C	T	3: 96,715,201		probably benign	Het
Ppil2	T	C	16: 17,097,405	N113S	probably benign	Het
Pramel4	G	C	4: 144,068,482	G483R	probably damaging	Het
Prdm10	T	C	9: 31,327,397	L195P	probably damaging	Het
Prss16	A	T	13: 22,003,005	L465Q	possibly damaging	Het
Psg25	G	T	7: 18,529,594	H101Q	possibly damaging	Het
Pstpip2	A	G	18: 77,846,408	D55G	possibly damaging	Het
Rfc1	A	T	5: 65,278,792	D636E	possibly damaging	Het
Scarf2	G	T	16: 17,803,110	C214F	probably damaging	Het
Sirt4	T	C	5: 115,482,645	E156G	probably damaging	Het
Spag6	C	T	2: 18,734,117	S286L	probably benign	Het
Stx17	T	A	4: 48,183,444	H267Q	unknown	Het
Tekt3	T	C	11: 63,070,232	C76R	probably benign	Het
Tln1	A	T	4: 43,538,281	V1807E	possibly damaging	Het
Tnfrsf21	A	G	17: 43,085,481	D552G	probably damaging	Het
Ttn	C	A	2: 76,730,320	V29246L	possibly damaging	Het
Usp43	C	A	11: 67,898,962	C252F	probably damaging	Het
Vmn2r16	T	C	5: 109,340,044	I261T	probably benign	Het
Vwa5b1	T	C	4: 138,581,219	E769G	probably benign	Het
Xrn1	T	A	9: 95,991,193	F670Y	probably benign	Het
Zc3h7b	G	A	15: 81,772,480	R166Q	probably benign	Het
Zdhhc14	A	T	17: 5,725,295	Y274F	possibly damaging	Het
Zeb2	T	A	2: 44,996,127	M973L	probably benign	Het
Zfp638	T	C	6: 83,977,053	V1380A	possibly damaging	Het

Other mutations in Coro6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00952:Coro6	APN	11	77468465	missense	probably damaging	1.00
IGL01086:Coro6	APN	11	77466548	nonsense	probably null
IGL03184:Coro6	APN	11	77463953	missense	probably damaging	1.00
R0365:Coro6	UTSW	11	77464090	missense	probably benign	0.28
R1712:Coro6	UTSW	11	77469467	missense	probably benign	0.19
R1738:Coro6	UTSW	11	77469425	missense	probably benign	0.02
R2900:Coro6	UTSW	11	77467813	missense	probably benign
R3081:Coro6	UTSW	11	77468912	missense	probably damaging	1.00
R3700:Coro6	UTSW	11	77467303	missense	probably damaging	1.00
R4503:Coro6	UTSW	11	77469446	missense	probably benign	0.31
R4740:Coro6	UTSW	11	77469199	missense	possibly damaging	0.59
R4749:Coro6	UTSW	11	77469148	missense	probably damaging	1.00
R5501:Coro6	UTSW	11	77467796	missense	probably damaging	1.00
R5996:Coro6	UTSW	11	77466496	missense	probably benign	0.02
R6590:Coro6	UTSW	11	77465780	missense	probably benign	0.31
R6619:Coro6	UTSW	11	77466204	missense	possibly damaging	0.85
R6690:Coro6	UTSW	11	77465780	missense	probably benign	0.31
R7052:Coro6	UTSW	11	77466230	missense	probably benign	0.16
R7207:Coro6	UTSW	11	77467263	missense	possibly damaging	0.46
R7775:Coro6	UTSW	11	77465773	missense	probably benign	0.00
R8743:Coro6	UTSW	11	77466439	missense	probably damaging	0.98
R9169:Coro6	UTSW	11	77468503	missense	probably damaging	1.00
R9384:Coro6	UTSW	11	77469392	missense	probably benign	0.32
X0064:Coro6	UTSW	11	77468608	critical splice donor site	probably null
Z1176:Coro6	UTSW	11	77467865	frame shift	probably null
Z1177:Coro6	UTSW	11	77469109	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCTACAAGCTGCACGAACG -3'
(R):5'- CGTGGTCAGATCTCAGAGCTTAC -3'

Sequencing Primer
(F):5'- GAAAGTGTGAACCCATCATCATG -3'
(R):5'- TCTCAGAGCTTACCGACAAGGG -3'

Posted On

2021-07-15