Mutagenetix > Incidental Mutation

Incidental Mutation 'R6683:Ncoa7'

527582

Institutional Source

Beutler Lab

Gene Symbol

Ncoa7

Ensembl Gene

ENSMUSG00000039697

Gene Name

nuclear receptor coactivator 7

Synonyms

9030406N13Rik

MMRRC Submission

044802-MU

Accession Numbers

Genbank: NM_172495; MGI: 2444847

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6683 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

30628999-30803326 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 30771721 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 20 (R20G)

Ref Sequence

ENSEMBL: ENSMUSP00000150021 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068567] [ENSMUST00000213836] [ENSMUST00000215725] [ENSMUST00000215740] [ENSMUST00000215926]

AlphaFold

Q6DFV7

Predicted Effect

probably damaging
Transcript: ENSMUST00000068567
AA Change: R20G

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000066741
Gene: ENSMUSG00000039697
AA Change: R20G

Domain	Start	End	E-Value	Type
coiled coil region	1	32	N/A	INTRINSIC
LysM	118	161	2.24e-7	SMART
low complexity region	165	176	N/A	INTRINSIC
TLDc	781	943	2.86e-64	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000213836
AA Change: R20G

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214553

Predicted Effect

probably damaging
Transcript: ENSMUST00000215725
AA Change: R20G

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000215740
AA Change: R20G

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000215926
AA Change: R20G

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 96.0%

Validation Efficiency

Allele List at MGI

All alleles(108) : Gene trapped(108)

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aamp	T	C	1: 74,282,445 (GRCm38)	E169G	possibly damaging	Het
Acat2	G	A	17: 12,943,927 (GRCm38)	R377C	probably benign	Het
Adgrg6	A	G	10: 14,456,167 (GRCm38)	V398A	probably damaging	Het
BC025920	A	G	10: 81,609,301 (GRCm38)	H86R	probably damaging	Het
BC028528	T	C	3: 95,888,227 (GRCm38)	T88A	probably damaging	Het
Creb3l4	T	A	3: 90,237,805 (GRCm38)	T347S	probably benign	Het
Dhcr7	T	C	7: 143,843,311 (GRCm38)	V180A	probably damaging	Het
Fam187a	T	C	11: 102,886,189 (GRCm38)	V273A	probably damaging	Het
Hdgfl3	G	A	7: 81,900,353 (GRCm38)	R78W	possibly damaging	Het
Krt8	T	C	15: 101,998,004 (GRCm38)	T357A	probably benign	Het
Lkaaear1	TCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAG	TCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAG	2: 181,697,561 (GRCm38)		probably benign	Het
Ly6d	A	T	15: 74,762,450 (GRCm38)	V97D	probably benign	Het
Map3k13	T	C	16: 21,892,312 (GRCm38)	I115T	probably benign	Het
Muc2	G	A	7: 141,751,477 (GRCm38)	V173I	probably benign	Het
Nck2	T	C	1: 43,569,178 (GRCm38)	S327P	probably benign	Het
Nlrp4f	G	A	13: 65,199,195 (GRCm38)	T83I	probably benign	Het
Nploc4	A	G	11: 120,383,330 (GRCm38)	S546P	probably damaging	Het
Olfr1444	A	G	19: 12,862,650 (GRCm38)	S292G	probably damaging	Het
Olfr396-ps1	A	G	11: 73,928,113 (GRCm38)	Y36C	probably damaging	Het
Olfr577	C	T	7: 102,973,713 (GRCm38)	R93Q	probably benign	Het
Olfr671	C	T	7: 104,975,968 (GRCm38)	V10I	probably benign	Het
Panx1	T	C	9: 15,008,011 (GRCm38)	E184G	probably benign	Het
Parp14	T	C	16: 35,834,677 (GRCm38)	Y1808C	probably damaging	Het
Plcb1	A	T	2: 134,786,593 (GRCm38)	S21C	probably benign	Het
Ppil6	A	G	10: 41,498,431 (GRCm38)	N103D	probably benign	Het
Pth1r	C	T	9: 110,727,251 (GRCm38)		probably null	Het
Rapgef4	A	T	2: 72,054,779 (GRCm38)		probably benign	Het
Rlf	A	G	4: 121,147,926 (GRCm38)	S1286P	probably damaging	Het
Rnf217	A	G	10: 31,534,826 (GRCm38)	V291A	possibly damaging	Het
Serpina3a	T	C	12: 104,119,637 (GRCm38)	M117T	probably benign	Het
St8sia4	T	C	1: 95,653,699 (GRCm38)	D106G	probably damaging	Het
Tjp2	A	G	19: 24,120,843 (GRCm38)	I485T	probably damaging	Het
Trdc	T	C	14: 54,144,235 (GRCm38)		probably benign	Het
Ttn	A	G	2: 76,710,660 (GRCm38)	L33994P	probably damaging	Het
Vmn2r42	T	A	7: 8,184,225 (GRCm38)	K799N	probably damaging	Het
Zfp42	G	A	8: 43,296,056 (GRCm38)	T136M	possibly damaging	Het
Znhit1	A	T	5: 136,982,633 (GRCm38)	S109T	probably benign	Het

Other mutations in Ncoa7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01406:Ncoa7	APN	10	30,690,840 (GRCm38)	missense	probably damaging	1.00
IGL01716:Ncoa7	APN	10	30,662,334 (GRCm38)	missense	probably damaging	0.96
IGL02114:Ncoa7	APN	10	30,662,364 (GRCm38)	missense	probably damaging	1.00
IGL02170:Ncoa7	APN	10	30,689,853 (GRCm38)	missense	possibly damaging	0.94
IGL02436:Ncoa7	APN	10	30,694,147 (GRCm38)	missense	probably damaging	1.00
IGL02499:Ncoa7	APN	10	30,690,889 (GRCm38)	missense	probably benign	0.04
IGL02533:Ncoa7	APN	10	30,722,785 (GRCm38)	missense	probably damaging	1.00
IGL02533:Ncoa7	APN	10	30,690,899 (GRCm38)	missense	possibly damaging	0.87
IGL02590:Ncoa7	APN	10	30,694,163 (GRCm38)	missense	probably damaging	1.00
IGL02657:Ncoa7	APN	10	30,652,976 (GRCm38)	missense	probably damaging	1.00
IGL03065:Ncoa7	APN	10	30,647,997 (GRCm38)	missense	probably damaging	1.00
IGL03088:Ncoa7	APN	10	30,698,125 (GRCm38)	splice site	probably null
IGL03090:Ncoa7	APN	10	30,662,400 (GRCm38)	missense	probably damaging	0.96
IGL03196:Ncoa7	APN	10	30,647,514 (GRCm38)	utr 3 prime	probably benign
D6062:Ncoa7	UTSW	10	30,722,655 (GRCm38)	missense	probably damaging	1.00
R0058:Ncoa7	UTSW	10	30,647,541 (GRCm38)	missense	probably damaging	1.00
R0058:Ncoa7	UTSW	10	30,647,541 (GRCm38)	missense	probably damaging	1.00
R0578:Ncoa7	UTSW	10	30,701,917 (GRCm38)	critical splice donor site	probably null
R0729:Ncoa7	UTSW	10	30,691,579 (GRCm38)	missense	probably benign	0.00
R1538:Ncoa7	UTSW	10	30,694,211 (GRCm38)	missense	probably damaging	0.99
R1539:Ncoa7	UTSW	10	30,771,729 (GRCm38)	missense	probably damaging	1.00
R1574:Ncoa7	UTSW	10	30,694,101 (GRCm38)	missense	probably damaging	1.00
R1574:Ncoa7	UTSW	10	30,694,101 (GRCm38)	missense	probably damaging	1.00
R1624:Ncoa7	UTSW	10	30,704,659 (GRCm38)	missense	possibly damaging	0.87
R1639:Ncoa7	UTSW	10	30,701,992 (GRCm38)	missense	probably damaging	1.00
R1655:Ncoa7	UTSW	10	30,698,245 (GRCm38)	critical splice acceptor site	probably null
R1876:Ncoa7	UTSW	10	30,698,126 (GRCm38)	intron	probably benign
R1885:Ncoa7	UTSW	10	30,648,452 (GRCm38)	missense	possibly damaging	0.81
R1886:Ncoa7	UTSW	10	30,648,452 (GRCm38)	missense	possibly damaging	0.81
R1887:Ncoa7	UTSW	10	30,648,452 (GRCm38)	missense	possibly damaging	0.81
R1909:Ncoa7	UTSW	10	30,689,800 (GRCm38)	missense	probably damaging	1.00
R1938:Ncoa7	UTSW	10	30,698,170 (GRCm38)	missense	probably benign	0.02
R1965:Ncoa7	UTSW	10	30,654,430 (GRCm38)	nonsense	probably null
R1978:Ncoa7	UTSW	10	30,691,299 (GRCm38)	missense	probably benign
R2303:Ncoa7	UTSW	10	30,654,435 (GRCm38)	missense	probably damaging	1.00
R3777:Ncoa7	UTSW	10	30,689,756 (GRCm38)	missense	probably damaging	1.00
R3778:Ncoa7	UTSW	10	30,689,756 (GRCm38)	missense	probably damaging	1.00
R4026:Ncoa7	UTSW	10	30,722,724 (GRCm38)	missense	probably benign	0.02
R4230:Ncoa7	UTSW	10	30,698,257 (GRCm38)	splice site	probably null
R4667:Ncoa7	UTSW	10	30,690,790 (GRCm38)	missense	probably damaging	1.00
R4786:Ncoa7	UTSW	10	30,655,642 (GRCm38)	missense	probably benign	0.28
R4809:Ncoa7	UTSW	10	30,771,762 (GRCm38)	missense	possibly damaging	0.92
R4820:Ncoa7	UTSW	10	30,648,476 (GRCm38)	missense	probably damaging	1.00
R4839:Ncoa7	UTSW	10	30,722,659 (GRCm38)	missense	possibly damaging	0.93
R4861:Ncoa7	UTSW	10	30,704,612 (GRCm38)	missense	probably benign
R4861:Ncoa7	UTSW	10	30,704,612 (GRCm38)	missense	probably benign
R5271:Ncoa7	UTSW	10	30,722,729 (GRCm38)	missense	probably benign	0.02
R5384:Ncoa7	UTSW	10	30,722,817 (GRCm38)	missense	probably benign	0.00
R5418:Ncoa7	UTSW	10	30,648,039 (GRCm38)	missense	probably damaging	1.00
R5964:Ncoa7	UTSW	10	30,704,636 (GRCm38)	missense	probably damaging	1.00
R6257:Ncoa7	UTSW	10	30,694,177 (GRCm38)	missense	probably damaging	1.00
R6813:Ncoa7	UTSW	10	30,696,192 (GRCm38)	missense	probably damaging	1.00
R6910:Ncoa7	UTSW	10	30,694,121 (GRCm38)	missense	possibly damaging	0.89
R7123:Ncoa7	UTSW	10	30,654,439 (GRCm38)	missense	probably benign	0.28
R7327:Ncoa7	UTSW	10	30,689,800 (GRCm38)	missense	probably damaging	1.00
R7412:Ncoa7	UTSW	10	30,722,851 (GRCm38)	missense	possibly damaging	0.94
R7638:Ncoa7	UTSW	10	30,722,798 (GRCm38)	missense	probably benign	0.35
R7653:Ncoa7	UTSW	10	30,694,243 (GRCm38)	missense	probably damaging	1.00
R7848:Ncoa7	UTSW	10	30,648,418 (GRCm38)	missense	possibly damaging	0.82
R7861:Ncoa7	UTSW	10	30,691,060 (GRCm38)	missense	probably benign	0.38
R8125:Ncoa7	UTSW	10	30,694,091 (GRCm38)	missense	possibly damaging	0.80
R8198:Ncoa7	UTSW	10	30,704,668 (GRCm38)	missense	probably benign	0.00
R8240:Ncoa7	UTSW	10	30,691,729 (GRCm38)	missense	probably benign	0.45
R8353:Ncoa7	UTSW	10	30,694,159 (GRCm38)	missense	probably damaging	1.00
R8509:Ncoa7	UTSW	10	30,696,052 (GRCm38)	missense	probably benign	0.00
R8861:Ncoa7	UTSW	10	30,691,368 (GRCm38)	missense	probably benign	0.02
R9040:Ncoa7	UTSW	10	30,654,393 (GRCm38)	missense	probably benign	0.00
R9136:Ncoa7	UTSW	10	30,691,632 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCCTGCTATACACTGAGAGG -3'
(R):5'- TGTTTTGAACCATGTCACTCTG -3'

Sequencing Primer
(F):5'- GGTTGTAGTCTCAGAGAACCACC -3'
(R):5'- GAACCATGTCACTCTGCTTTATTCTG -3'

Posted On

2018-07-23