Mutagenetix > Incidental Mutation

Incidental Mutation 'R8240:Ncoa7'

640915

Institutional Source

Beutler Lab

Gene Symbol

Ncoa7

Ensembl Gene

ENSMUSG00000039697

Gene Name

nuclear receptor coactivator 7

Synonyms

9030406N13Rik

MMRRC Submission

067671-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8240 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

30521578-30683401 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30567725 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 318 (S318P)

Ref Sequence

ENSEMBL: ENSMUSP00000066741 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068567]

AlphaFold

Q6DFV7

Predicted Effect

probably benign
Transcript: ENSMUST00000068567
AA Change: S318P

PolyPhen 2 Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000066741
Gene: ENSMUSG00000039697
AA Change: S318P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

All alleles(108) : Gene trapped(108)

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610524H06Rik	A	T	5: 114,961,472 (GRCm39)	V12E	probably benign	Het
Ahnak2	A	G	12: 112,741,082 (GRCm39)	F997L	probably benign	Het
Baiap3	A	T	17: 25,464,288 (GRCm39)		probably null	Het
Cct6b	A	G	11: 82,614,650 (GRCm39)	I446T	probably damaging	Het
Cfap206	A	G	4: 34,728,902 (GRCm39)	M1T	probably null	Het
Clca4a	T	C	3: 144,676,488 (GRCm39)	Y64C	probably damaging	Het
Col24a1	A	T	3: 145,213,457 (GRCm39)	Q1354L	probably benign	Het
Coro7	A	G	16: 4,486,660 (GRCm39)	V171A	probably damaging	Het
Cyp3a44	G	A	5: 145,725,257 (GRCm39)	L315F	probably damaging	Het
Frem1	T	A	4: 82,874,485 (GRCm39)	D1379V	probably benign	Het
Gstm6	T	A	3: 107,849,453 (GRCm39)	D119V	probably damaging	Het
Hcn1	ACAGCAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ACAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	13: 118,112,269 (GRCm39)		probably benign	Het
Hibch	T	A	1: 52,940,494 (GRCm39)		probably null	Het
Il1rap	G	A	16: 26,520,001 (GRCm39)	E356K	probably benign	Het
Itm2c	G	T	1: 85,822,457 (GRCm39)	G25C	probably benign	Het
Klhl8	C	T	5: 104,015,392 (GRCm39)	V511I	probably damaging	Het
Mcee	A	G	7: 64,061,665 (GRCm39)	H156R	possibly damaging	Het
Myh3	C	A	11: 66,983,196 (GRCm39)	Q908K	probably benign	Het
Nhsl1	A	G	10: 18,402,487 (GRCm39)	N1208D	probably benign	Het
Or10p21	T	A	10: 128,847,766 (GRCm39)	I204K	possibly damaging	Het
Or4a15	C	T	2: 89,192,896 (GRCm39)	M292I	probably benign	Het
P2rx7	C	T	5: 122,793,096 (GRCm39)	P140S	probably damaging	Het
Plcd4	C	G	1: 74,593,660 (GRCm39)	H262D	probably benign	Het
Prps1l1	T	C	12: 35,035,140 (GRCm39)	V85A	probably damaging	Het
Prss27	G	A	17: 24,263,919 (GRCm39)	V202I	probably benign	Het
Rtn4r	A	T	16: 17,969,258 (GRCm39)	M229L	probably benign	Het
Slc43a1	A	G	2: 84,690,167 (GRCm39)	H491R	possibly damaging	Het
Slc44a2	A	G	9: 21,253,481 (GRCm39)	D83G	probably benign	Het
Spag6l	A	G	16: 16,580,889 (GRCm39)	V486A	probably damaging	Het
Sspo	A	T	6: 48,460,436 (GRCm39)	Q3408L	possibly damaging	Het
Tasor2	T	C	13: 3,624,388 (GRCm39)	D1854G	probably benign	Het
Tjp3	G	A	10: 81,109,641 (GRCm39)	T854I	probably benign	Het
Tmsb10b	A	C	7: 24,561,805 (GRCm39)	I35L	probably benign	Het
Trim30a	C	T	7: 104,070,663 (GRCm39)	G250D	probably benign	Het
Ttll1	G	T	15: 83,376,783 (GRCm39)	D313E	probably damaging	Het
Zfp160	A	T	17: 21,246,350 (GRCm39)	N300I	probably damaging	Het
Zfp458	C	T	13: 67,406,190 (GRCm39)	C83Y	probably damaging	Het
Zmym4	A	T	4: 126,798,188 (GRCm39)		probably null	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
IGL02533:Ncoa7	APN	10	30,566,895 (GRCm39)	missense	possibly damaging	0.87
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
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

Predicted Primers

PCR Primer
(F):5'- GGTTGTTCCCCTGGAAGATTGC -3'
(R):5'- ACAGTCGGTCTCTTGGTTTC -3'

Sequencing Primer
(F):5'- GGAAGATTGCAGATTCTTTAATTTCC -3'
(R):5'- ACAGTCGGTCTCTTGGTTTCATTTTC -3'

Posted On

2020-07-28