Mutagenetix > Incidental Mutation

Incidental Mutation 'R6910:Ncoa7'

538979

Institutional Source

Beutler Lab

Gene Symbol

Ncoa7

Ensembl Gene

ENSMUSG00000039697

Gene Name

nuclear receptor coactivator 7

Synonyms

9030406N13Rik

MMRRC Submission

045002-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6910 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30628999-30803326 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 30694121 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 281 (I281L)

Ref Sequence

ENSEMBL: ENSMUSP00000149957 (fasta)

Gene Model

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

AlphaFold

Q6DFV7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000068567
AA Change: I281L

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000066741
Gene: ENSMUSG00000039697
AA Change: I281L

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

possibly damaging
Transcript: ENSMUST00000213836
AA Change: I281L

PolyPhen 2 Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000215725

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215740
AA Change: I281L

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215926
AA Change: I243L

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000217398

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

100% (37/37)

Allele List at MGI

All alleles(108) : Gene trapped(108)

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	G	11: 23,620,447 (GRCm38)	V151A	probably damaging	Het
Cfap54	A	G	10: 92,836,512 (GRCm38)	S2899P	probably benign	Het
Chil5	A	G	3: 106,019,661 (GRCm38)	W82R	probably damaging	Het
Dennd3	A	G	15: 73,555,116 (GRCm38)	T781A	probably benign	Het
Epha2	A	G	4: 141,321,513 (GRCm38)	D597G	probably damaging	Het
Gcn1l1	A	G	5: 115,606,538 (GRCm38)	T1598A	probably benign	Het
Glp2r	A	G	11: 67,730,671 (GRCm38)	F162S	probably benign	Het
Gm10130	A	T	2: 150,324,067 (GRCm38)	Q56L	probably benign	Het
Gm17655	T	A	5: 110,047,173 (GRCm38)	R248*	probably null	Het
Gm9268	T	C	7: 43,024,051 (GRCm38)	F178L	probably benign	Het
Gnptab	G	A	10: 88,431,396 (GRCm38)	G450S	probably damaging	Het
Gpatch2l	G	A	12: 86,244,184 (GRCm38)	R47H	probably damaging	Het
Hapln2	A	G	3: 88,023,828 (GRCm38)	Y127H	probably damaging	Het
Hdac4	G	T	1: 91,982,153 (GRCm38)	T463K	probably damaging	Het
Ift80	A	C	3: 68,927,735 (GRCm38)	S458A	probably benign	Het
Lama1	A	G	17: 67,791,464 (GRCm38)	D1846G	possibly damaging	Het
Map3k8	A	G	18: 4,340,801 (GRCm38)	I171T	probably benign	Het
Micu1	A	G	10: 59,740,667 (GRCm38)	E115G	probably damaging	Het
Mrpl39	A	G	16: 84,735,192 (GRCm38)	V9A	unknown	Het
Nms	A	G	1: 38,941,895 (GRCm38)	E54G	probably benign	Het
Nrip1	G	A	16: 76,294,417 (GRCm38)	A84V	probably damaging	Het
Olfr1331	T	A	4: 118,869,138 (GRCm38)	M119K	probably damaging	Het
Olfr743	G	A	14: 50,533,873 (GRCm38)	V154M	probably benign	Het
Pcdhga10	T	A	18: 37,748,232 (GRCm38)	S349T	probably damaging	Het
R3hcc1	G	A	14: 69,697,575 (GRCm38)	P454L	probably damaging	Het
Rsrc1	C	T	3: 66,994,649 (GRCm38)	P44L	unknown	Het
Ryr3	T	C	2: 112,958,175 (GRCm38)	D170G	probably damaging	Het
Scp2	C	A	4: 108,105,086 (GRCm38)	G81C	probably damaging	Het
Sez6	A	G	11: 77,953,869 (GRCm38)	T173A	possibly damaging	Het
Syne1	T	C	10: 5,048,887 (GRCm38)	H8142R	probably benign	Het
Tcof1	G	C	18: 60,829,051 (GRCm38)	A702G	possibly damaging	Het
Tnfrsf11a	A	G	1: 105,844,546 (GRCm38)	T520A	probably damaging	Het
Tpm1	A	G	9: 67,031,974 (GRCm38)	S170P	probably damaging	Het
Try5	T	C	6: 41,311,799 (GRCm38)	D54G	possibly damaging	Het
Zan	T	C	5: 137,419,080 (GRCm38)	E3041G	unknown	Het
Zfp616	A	T	11: 74,085,002 (GRCm38)	H699L	probably damaging	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
R6683:Ncoa7	UTSW	10	30,771,721 (GRCm38)	missense	probably damaging	0.99
R6813:Ncoa7	UTSW	10	30,696,192 (GRCm38)	missense	probably damaging	1.00
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'- GACGCCAGGTAGATCTTAAATAGC -3'
(R):5'- ACATGGAAGGTTCTGTGATGGC -3'

Sequencing Primer
(F):5'- TTTCAATTTCACAACACAAAATCTCC -3'
(R):5'- AAGGTTCTGTGATGGCTGAGGAATAC -3'

Posted On

2018-11-06