Mutagenetix > Incidental Mutation

Incidental Mutation 'R4180:Gon7'

319698

Institutional Source

Beutler Lab

Gene Symbol

Gon7

Ensembl Gene

ENSMUSG00000091931

Gene Name

GON7 subunit of KEOPS complex

Synonyms

AK010878

MMRRC Submission

041016-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.285) question?

Stock #

R4180 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102719534-102724062 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 102720363 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 90 (S90P)

Ref Sequence

ENSEMBL: ENSMUSP00000136425 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046404] [ENSMUST00000173969] [ENSMUST00000174651] [ENSMUST00000179263] [ENSMUST00000179306]

AlphaFold

P0C8B4

Predicted Effect

probably benign
Transcript: ENSMUST00000046404

SMART Domains

Protein: ENSMUSP00000041247
Gene: ENSMUSG00000041712

Domain	Start	End	E-Value	Type
low complexity region	13	33	N/A	INTRINSIC
Pfam:zf-UBR	45	113	2.4e-15	PFAM
PHD	134	186	1.78e-1	SMART
low complexity region	261	267	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000173969
AA Change: S90P

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000136425
Gene: ENSMUSG00000091931
AA Change: S90P

Domain	Start	End	E-Value	Type
Pfam:DUF4611	3	96	7.7e-41	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174651

SMART Domains

Protein: ENSMUSP00000133604
Gene: ENSMUSG00000041716

Domain	Start	End	E-Value	Type
Pfam:DUF4611	3	73	8.6e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000179263

SMART Domains

Protein: ENSMUSP00000137212
Gene: ENSMUSG00000091931

Domain	Start	End	E-Value	Type
Pfam:DUF4611	3	77	7.8e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000179306

SMART Domains

Protein: ENSMUSP00000136193
Gene: ENSMUSG00000098530

Domain	Start	End	E-Value	Type
Pfam:DUF4611	3	77	1.5e-28	PFAM

Meta Mutation Damage Score

0.0686

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

96% (52/54)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	T	C	2: 25,331,590 (GRCm39)	S1326P	possibly damaging	Het
Adam22	T	G	5: 8,199,218 (GRCm39)	D246A	probably damaging	Het
Bmf	T	C	2: 118,363,018 (GRCm39)		probably benign	Het
Cd300lf	T	C	11: 115,015,089 (GRCm39)	Y160C	possibly damaging	Het
Chuk	G	A	19: 44,090,279 (GRCm39)	A71V	probably benign	Het
Col19a1	C	T	1: 24,309,473 (GRCm39)	G1060E	probably damaging	Het
Dock7	A	G	4: 98,904,973 (GRCm39)	V634A	probably benign	Het
Dpm3	A	G	3: 89,174,039 (GRCm39)		probably benign	Het
Dqx1	A	G	6: 83,036,460 (GRCm39)	T155A	probably benign	Het
Dysf	G	A	6: 84,163,491 (GRCm39)		probably null	Het
Fam184b	T	C	5: 45,697,106 (GRCm39)	E686G	probably benign	Het
Fhad1	T	A	4: 141,712,854 (GRCm39)	D195V	possibly damaging	Het
Glis2	T	C	16: 4,429,240 (GRCm39)	S148P	probably benign	Het
Gm8587	C	T	12: 88,056,516 (GRCm39)		noncoding transcript	Het
Haus6	A	T	4: 86,501,811 (GRCm39)	W687R	probably benign	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Idh3g	A	T	X: 72,825,610 (GRCm39)		probably null	Het
Ints9	T	C	14: 65,230,430 (GRCm39)	L119P	probably damaging	Het
Itga9	T	C	9: 118,436,146 (GRCm39)	Y51H	probably damaging	Het
Klf17	T	A	4: 117,616,383 (GRCm39)	H316L	probably benign	Het
Klf4	C	T	4: 55,530,884 (GRCm39)	G26R	possibly damaging	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,758,813 (GRCm39)		probably benign	Het
Lhcgr	A	G	17: 89,049,711 (GRCm39)	V605A	probably damaging	Het
Mafa	T	C	15: 75,619,413 (GRCm39)	Y120C	possibly damaging	Het
Map3k20	A	G	2: 72,271,915 (GRCm39)	Y681C	probably damaging	Het
Nub1	T	C	5: 24,897,875 (GRCm39)	I87T	probably damaging	Het
Or1ak2	T	A	2: 36,827,242 (GRCm39)	V37D	probably damaging	Het
Pak2	C	G	16: 31,871,005 (GRCm39)	G59A	probably benign	Het
Pdzrn4	T	A	15: 92,299,898 (GRCm39)	V256D	possibly damaging	Het
Pkd2l1	T	C	19: 44,180,620 (GRCm39)	N32D	probably benign	Het
Plec	T	C	15: 76,064,415 (GRCm39)	K1953R	possibly damaging	Het
Plekhg4	T	A	8: 106,108,030 (GRCm39)	V1029E	possibly damaging	Het
Prkcd	A	G	14: 30,332,261 (GRCm39)		probably benign	Het
Rgcc	T	C	14: 79,538,155 (GRCm39)	S79G	probably benign	Het
Sspo	T	C	6: 48,475,329 (GRCm39)		probably null	Het
Stxbp5l	A	T	16: 37,068,242 (GRCm39)	C315S	probably benign	Het
Tc2n	A	G	12: 101,631,954 (GRCm39)	L301P	probably damaging	Het
Tcerg1l	T	C	7: 137,878,405 (GRCm39)		probably null	Het
Tex12	T	C	9: 50,470,587 (GRCm39)		probably null	Het
Tgm5	T	C	2: 120,907,442 (GRCm39)	I94V	probably benign	Het
Tonsl	A	G	15: 76,508,675 (GRCm39)	L26P	probably damaging	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Trbv4	A	C	6: 41,036,646 (GRCm39)	D57A	possibly damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Tuba4a	T	C	1: 75,192,426 (GRCm39)	D396G	probably benign	Het
Txnrd2	C	G	16: 18,245,175 (GRCm39)		probably null	Het
Zfp445	T	C	9: 122,681,589 (GRCm39)	N784S	probably benign	Het
Zfp459	G	T	13: 67,556,562 (GRCm39)	L174I	probably benign	Het

Other mutations in Gon7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
PIT4544001:Gon7	UTSW	12	102,720,409 (GRCm39)	missense	probably benign	0.00
R0520:Gon7	UTSW	12	102,724,047 (GRCm39)	unclassified	probably benign
R5213:Gon7	UTSW	12	102,720,380 (GRCm39)	missense	possibly damaging	0.93
R5497:Gon7	UTSW	12	102,720,363 (GRCm39)	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- TTCTGTAAGTTCCAGCAGGTGATG -3'
(R):5'- TCTGGTTTGTGAGTCCCCAAAG -3'

Sequencing Primer
(F):5'- TGAAATGGCAGCGCTCTG -3'
(R):5'- GGGAAATGGTCTCAGATCAGTCCC -3'

Posted On

2015-06-10