Mutagenetix > Incidental Mutation

Incidental Mutation 'R4026:Ncoa7'

312993

Institutional Source

Beutler Lab

Gene Symbol

Ncoa7

Ensembl Gene

ENSMUSG00000039697

Gene Name

nuclear receptor coactivator 7

Synonyms

9030406N13Rik

MMRRC Submission

040849-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4026 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30521578-30683401 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 30598720 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 68 (T68A)

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: T68A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000066741
Gene: ENSMUSG00000039697
AA Change: T68A

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: T68A

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

Predicted Effect

probably benign
Transcript: ENSMUST00000215725
AA Change: T68A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Predicted Effect

probably benign
Transcript: ENSMUST00000215740
AA Change: T68A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Predicted Effect

probably benign
Transcript: ENSMUST00000215926
AA Change: T68A

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

Predicted Effect

probably benign
Transcript: ENSMUST00000217398

Meta Mutation Damage Score

0.0671

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.1%

Validation Efficiency

97% (36/37)

Allele List at MGI

All alleles(108) : Gene trapped(108)

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg7	A	T	16: 56,550,661 (GRCm39)	Y684N	probably damaging	Het
Ahnak	G	T	19: 8,988,663 (GRCm39)	V3316F	probably damaging	Het
Cacna1a	C	T	8: 85,307,962 (GRCm39)	T1409I	probably damaging	Het
Ccdc158	A	G	5: 92,791,666 (GRCm39)	M698T	probably benign	Het
Ces2g	T	A	8: 105,691,377 (GRCm39)	V171E	probably damaging	Het
Ctnna2	A	T	6: 77,613,827 (GRCm39)	D254E	possibly damaging	Het
Dlec1	T	C	9: 118,966,408 (GRCm39)	Y1126H	probably damaging	Het
Dspp	G	A	5: 104,325,563 (GRCm39)	S642N	unknown	Het
Fezf2	A	T	14: 12,343,986 (GRCm38)	C302S	probably damaging	Het
Gm10754	A	G	10: 97,517,978 (GRCm39)		probably benign	Het
Gm5581	G	A	6: 131,144,031 (GRCm39)		noncoding transcript	Het
Gm7929	T	C	14: 41,472,509 (GRCm39)	K21E	probably damaging	Het
Hmcn1	A	T	1: 150,598,120 (GRCm39)	D1727E	probably benign	Het
Lrriq4	T	C	3: 30,704,422 (GRCm39)	V150A	possibly damaging	Het
Micu3	A	G	8: 40,812,496 (GRCm39)		probably benign	Het
Mrpl3	T	C	9: 104,948,685 (GRCm39)		probably null	Het
Myo1e	A	G	9: 70,232,157 (GRCm39)	I229V	probably benign	Het
Ncam1	T	C	9: 49,476,295 (GRCm39)	I265V	probably benign	Het
Oprk1	T	C	1: 5,668,908 (GRCm39)	V118A	probably benign	Het
Ppp3r1	T	C	11: 17,144,786 (GRCm39)	V133A	probably damaging	Het
Sidt1	A	G	16: 44,102,249 (GRCm39)	S304P	possibly damaging	Het
Srsf6	T	A	2: 162,776,211 (GRCm39)		probably benign	Het
Tas2r105	A	G	6: 131,663,789 (GRCm39)	V213A	probably benign	Het
Tlr12	C	T	4: 128,510,301 (GRCm39)	E650K	probably benign	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Trav4-2	T	A	14: 53,656,287 (GRCm39)	D96E	possibly damaging	Het
Vmn1r34	T	A	6: 66,614,688 (GRCm39)	M17L	probably benign	Het
Vmn2r6	A	T	3: 64,445,671 (GRCm39)	S685T	possibly damaging	Het
Vmn2r89	T	C	14: 51,689,500 (GRCm39)	M1T	probably null	Het
Wdr20	A	G	12: 110,759,950 (GRCm39)	T279A	probably benign	Het
Zfp407	A	G	18: 84,577,721 (GRCm39)	S1131P	possibly damaging	Het
Zfyve1	A	G	12: 83,641,296 (GRCm39)	V120A	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- AGACAGGGCCTTAGTAACCTG -3'
(R):5'- AGGATGGCATGTAACAACTTTCCC -3'

Sequencing Primer
(F):5'- AGTAACCTGGGCTGGCTTC -3'
(R):5'- GCATGTAACAACTTTCCCCCTTTTC -3'

Posted On

2015-04-30