Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02533:Ncoa7'

297384

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ncoa7

Ensembl Gene

ENSMUSG00000039697

Gene Name

nuclear receptor coactivator 7

Synonyms

9030406N13Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02533

Quality Score

Status

Chromosome

Chromosomal Location

30521578-30683401 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 30566895 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 545 (S545R)

Ref Sequence

ENSEMBL: ENSMUSP00000150021 (fasta)

Gene Model

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

AlphaFold

Q6DFV7

Predicted Effect

probably benign
Transcript: ENSMUST00000068567
AA Change: S594R

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000066741
Gene: ENSMUSG00000039697
AA Change: S594R

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 benign
Transcript: ENSMUST00000213836
AA Change: S583R

PolyPhen 2 Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000215725

Predicted Effect

probably benign
Transcript: ENSMUST00000215740
AA Change: S594R

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215926
AA Change: S545R

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000217398

Coding Region Coverage

Validation Efficiency

Allele List at MGI

All alleles(108) : Gene trapped(108)

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap1m2	T	C	9: 21,207,797 (GRCm39)	Y396C	probably damaging	Het
Bach2	T	C	4: 32,562,451 (GRCm39)	V306A	probably benign	Het
Cnga4	T	C	7: 105,057,168 (GRCm39)	Y424H	probably damaging	Het
Cops9	T	C	1: 92,567,438 (GRCm39)	E79G	possibly damaging	Het
Crebbp	T	C	16: 3,925,296 (GRCm39)	N769D	probably damaging	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Dennd4b	A	T	3: 90,179,617 (GRCm39)	H636L	probably benign	Het
Dpysl3	T	C	18: 43,458,859 (GRCm39)	T632A	probably benign	Het
Gabbr1	C	T	17: 37,383,039 (GRCm39)	R857C	probably damaging	Het
Gbp10	A	T	5: 105,367,901 (GRCm39)	V424D	probably damaging	Het
Gnptg	T	C	17: 25,454,429 (GRCm39)	E146G	possibly damaging	Het
Has2	A	T	15: 56,545,091 (GRCm39)	H170Q	probably benign	Het
Il22ra1	G	A	4: 135,472,034 (GRCm39)	G190D	possibly damaging	Het
Lhcgr	T	C	17: 89,049,838 (GRCm39)	T563A	probably benign	Het
Mgat4b	T	A	11: 50,124,379 (GRCm39)	F413Y	probably damaging	Het
Mms22l	T	A	4: 24,581,099 (GRCm39)		probably benign	Het
Muc19	C	T	15: 91,782,241 (GRCm39)		noncoding transcript	Het
Nme1	A	G	11: 93,850,257 (GRCm39)	Y142H	possibly damaging	Het
Or10j3b	A	T	1: 173,043,628 (GRCm39)	M137L	probably damaging	Het
Or5h25	T	A	16: 58,930,047 (GRCm39)	T309S	probably benign	Het
Or8i2	T	A	2: 86,852,697 (GRCm39)	S64C	probably damaging	Het
Per2	A	G	1: 91,358,724 (GRCm39)	I587T	possibly damaging	Het
Pias3	A	G	3: 96,606,932 (GRCm39)	D65G	possibly damaging	Het
Pramel20	A	G	4: 143,297,572 (GRCm39)		probably benign	Het
Prkacb	T	C	3: 146,438,451 (GRCm39)	I304M	possibly damaging	Het
Ripor2	G	T	13: 24,885,378 (GRCm39)	E538*	probably null	Het
Sart1	G	A	19: 5,433,749 (GRCm39)	R363*	probably null	Het
Serpinb3a	T	G	1: 106,974,892 (GRCm39)	I214L	probably benign	Het
Spon2	C	A	5: 33,371,942 (GRCm39)	C288F	probably damaging	Het
Tmprss11a	G	A	5: 86,562,386 (GRCm39)	R320C	probably damaging	Het
Trpm5	T	A	7: 142,643,282 (GRCm39)	I22F	probably benign	Het
Ube3a	T	C	7: 58,954,580 (GRCm39)	F818L	probably damaging	Het
Vmn1r120	T	G	7: 20,787,063 (GRCm39)	Q216P	probably damaging	Het
Vmn2r4	A	C	3: 64,305,840 (GRCm39)	Y527*	probably null	Het
Zfp618	A	T	4: 63,007,642 (GRCm39)	Y125F	probably damaging	Het

Other mutations in Ncoa7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01406:Ncoa7	APN	10	30,566,836 (GRCm39)	missense	probably damaging	1.00
IGL01716:Ncoa7	APN	10	30,538,330 (GRCm39)	missense	probably damaging	0.96
IGL02114:Ncoa7	APN	10	30,538,360 (GRCm39)	missense	probably damaging	1.00
IGL02170:Ncoa7	APN	10	30,565,849 (GRCm39)	missense	possibly damaging	0.94
IGL02436:Ncoa7	APN	10	30,570,143 (GRCm39)	missense	probably damaging	1.00
IGL02499:Ncoa7	APN	10	30,566,885 (GRCm39)	missense	probably benign	0.04
IGL02533:Ncoa7	APN	10	30,598,781 (GRCm39)	missense	probably damaging	1.00
IGL02590:Ncoa7	APN	10	30,570,159 (GRCm39)	missense	probably damaging	1.00
IGL02657:Ncoa7	APN	10	30,528,972 (GRCm39)	missense	probably damaging	1.00
IGL03065:Ncoa7	APN	10	30,523,993 (GRCm39)	missense	probably damaging	1.00
IGL03088:Ncoa7	APN	10	30,574,121 (GRCm39)	splice site	probably null
IGL03090:Ncoa7	APN	10	30,538,396 (GRCm39)	missense	probably damaging	0.96
IGL03196:Ncoa7	APN	10	30,523,510 (GRCm39)	utr 3 prime	probably benign
D6062:Ncoa7	UTSW	10	30,598,651 (GRCm39)	missense	probably damaging	1.00
R0058:Ncoa7	UTSW	10	30,523,537 (GRCm39)	missense	probably damaging	1.00
R0058:Ncoa7	UTSW	10	30,523,537 (GRCm39)	missense	probably damaging	1.00
R0578:Ncoa7	UTSW	10	30,577,913 (GRCm39)	critical splice donor site	probably null
R0729:Ncoa7	UTSW	10	30,567,575 (GRCm39)	missense	probably benign	0.00
R1538:Ncoa7	UTSW	10	30,570,207 (GRCm39)	missense	probably damaging	0.99
R1539:Ncoa7	UTSW	10	30,647,725 (GRCm39)	missense	probably damaging	1.00
R1574:Ncoa7	UTSW	10	30,570,097 (GRCm39)	missense	probably damaging	1.00
R1574:Ncoa7	UTSW	10	30,570,097 (GRCm39)	missense	probably damaging	1.00
R1624:Ncoa7	UTSW	10	30,580,655 (GRCm39)	missense	possibly damaging	0.87
R1639:Ncoa7	UTSW	10	30,577,988 (GRCm39)	missense	probably damaging	1.00
R1655:Ncoa7	UTSW	10	30,574,241 (GRCm39)	critical splice acceptor site	probably null
R1876:Ncoa7	UTSW	10	30,574,122 (GRCm39)	intron	probably benign
R1885:Ncoa7	UTSW	10	30,524,448 (GRCm39)	missense	possibly damaging	0.81
R1886:Ncoa7	UTSW	10	30,524,448 (GRCm39)	missense	possibly damaging	0.81
R1887:Ncoa7	UTSW	10	30,524,448 (GRCm39)	missense	possibly damaging	0.81
R1909:Ncoa7	UTSW	10	30,565,796 (GRCm39)	missense	probably damaging	1.00
R1938:Ncoa7	UTSW	10	30,574,166 (GRCm39)	missense	probably benign	0.02
R1965:Ncoa7	UTSW	10	30,530,426 (GRCm39)	nonsense	probably null
R1978:Ncoa7	UTSW	10	30,567,295 (GRCm39)	missense	probably benign
R2303:Ncoa7	UTSW	10	30,530,431 (GRCm39)	missense	probably damaging	1.00
R3777:Ncoa7	UTSW	10	30,565,752 (GRCm39)	missense	probably damaging	1.00
R3778:Ncoa7	UTSW	10	30,565,752 (GRCm39)	missense	probably damaging	1.00
R4026:Ncoa7	UTSW	10	30,598,720 (GRCm39)	missense	probably benign	0.02
R4230:Ncoa7	UTSW	10	30,574,253 (GRCm39)	splice site	probably null
R4667:Ncoa7	UTSW	10	30,566,786 (GRCm39)	missense	probably damaging	1.00
R4786:Ncoa7	UTSW	10	30,531,638 (GRCm39)	missense	probably benign	0.28
R4809:Ncoa7	UTSW	10	30,647,758 (GRCm39)	missense	possibly damaging	0.92
R4820:Ncoa7	UTSW	10	30,524,472 (GRCm39)	missense	probably damaging	1.00
R4839:Ncoa7	UTSW	10	30,598,655 (GRCm39)	missense	possibly damaging	0.93
R4861:Ncoa7	UTSW	10	30,580,608 (GRCm39)	missense	probably benign
R4861:Ncoa7	UTSW	10	30,580,608 (GRCm39)	missense	probably benign
R5271:Ncoa7	UTSW	10	30,598,725 (GRCm39)	missense	probably benign	0.02
R5384:Ncoa7	UTSW	10	30,598,813 (GRCm39)	missense	probably benign	0.00
R5418:Ncoa7	UTSW	10	30,524,035 (GRCm39)	missense	probably damaging	1.00
R5964:Ncoa7	UTSW	10	30,580,632 (GRCm39)	missense	probably damaging	1.00
R6257:Ncoa7	UTSW	10	30,570,173 (GRCm39)	missense	probably damaging	1.00
R6683:Ncoa7	UTSW	10	30,647,717 (GRCm39)	missense	probably damaging	0.99
R6813:Ncoa7	UTSW	10	30,572,188 (GRCm39)	missense	probably damaging	1.00
R6910:Ncoa7	UTSW	10	30,570,117 (GRCm39)	missense	possibly damaging	0.89
R7123:Ncoa7	UTSW	10	30,530,435 (GRCm39)	missense	probably benign	0.28
R7327:Ncoa7	UTSW	10	30,565,796 (GRCm39)	missense	probably damaging	1.00
R7412:Ncoa7	UTSW	10	30,598,847 (GRCm39)	missense	possibly damaging	0.94
R7638:Ncoa7	UTSW	10	30,598,794 (GRCm39)	missense	probably benign	0.35
R7653:Ncoa7	UTSW	10	30,570,239 (GRCm39)	missense	probably damaging	1.00
R7848:Ncoa7	UTSW	10	30,524,414 (GRCm39)	missense	possibly damaging	0.82
R7861:Ncoa7	UTSW	10	30,567,056 (GRCm39)	missense	probably benign	0.38
R8125:Ncoa7	UTSW	10	30,570,087 (GRCm39)	missense	possibly damaging	0.80
R8198:Ncoa7	UTSW	10	30,580,664 (GRCm39)	missense	probably benign	0.00
R8240:Ncoa7	UTSW	10	30,567,725 (GRCm39)	missense	probably benign	0.45
R8353:Ncoa7	UTSW	10	30,570,155 (GRCm39)	missense	probably damaging	1.00
R8509:Ncoa7	UTSW	10	30,572,048 (GRCm39)	missense	probably benign	0.00
R8861:Ncoa7	UTSW	10	30,567,364 (GRCm39)	missense	probably benign	0.02
R9040:Ncoa7	UTSW	10	30,530,389 (GRCm39)	missense	probably benign	0.00
R9136:Ncoa7	UTSW	10	30,567,628 (GRCm39)	missense	probably benign	0.00

Posted On

2015-04-16