Mutagenetix > Incidental Mutation

Incidental Mutation 'R5145:Gm9772'

395097

Institutional Source

Beutler Lab

Gene Symbol

Gm9772

Ensembl Gene

ENSMUSG00000040775

Gene Name

predicted gene 9772

Synonyms

MMRRC Submission

042729-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.129) question?

Stock #

R5145 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

22225174-22226657 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 22226107 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 59 (C59Y)

Ref Sequence

ENSEMBL: ENSMUSP00000074538 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075018] [ENSMUST00000174015]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000075018
AA Change: C59Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000074538
Gene: ENSMUSG00000040775
AA Change: C59Y

Domain	Start	End	E-Value	Type
ZnF_C2H2	6	28	1.01e-1	SMART
ZnF_C2H2	57	79	5.12e1	SMART
ZnF_C2H2	83	105	1.91e1	SMART
ZnF_C2H2	111	133	4.47e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172778

Predicted Effect

probably benign
Transcript: ENSMUST00000174015

SMART Domains

Protein: ENSMUSP00000133735
Gene: ENSMUSG00000053347

Domain	Start	End	E-Value	Type
KRAB	13	60	3.79e-15	SMART

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

100% (37/37)

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts12	G	A	15: 11,285,962 (GRCm39)	G724R	probably damaging	Het
Adgrg7	T	A	16: 56,562,682 (GRCm39)	I552L	probably benign	Het
Ankrd11	A	G	8: 123,617,943 (GRCm39)		probably benign	Het
Col12a1	T	C	9: 79,613,582 (GRCm39)	T88A	probably benign	Het
Col6a5	T	G	9: 105,811,444 (GRCm39)	I692L	unknown	Het
Cry2	T	C	2: 92,243,405 (GRCm39)	I479V	probably benign	Het
Ddx21	T	C	10: 62,423,318 (GRCm39)		probably null	Het
Efcab12	T	A	6: 115,800,238 (GRCm39)	I262F	probably damaging	Het
Eif2ak2	T	C	17: 79,183,633 (GRCm39)	D72G	possibly damaging	Het
Fry	T	C	5: 150,293,689 (GRCm39)	F461L	probably damaging	Het
Gm38706	G	A	6: 130,460,731 (GRCm39)		noncoding transcript	Het
Meig1	T	C	2: 3,410,263 (GRCm39)	E79G	probably damaging	Het
Mfng	C	T	15: 78,648,588 (GRCm39)	R163H	probably benign	Het
Mfsd2b	T	A	12: 4,915,908 (GRCm39)		probably benign	Het
Nfatc2	A	C	2: 168,431,987 (GRCm39)	I42S	probably benign	Het
Nlgn3	G	A	X: 100,361,891 (GRCm39)	V287I	probably benign	Het
Npy6r	C	T	18: 44,409,686 (GRCm39)	T369I	probably benign	Het
Or7a36	A	G	10: 78,820,143 (GRCm39)	E173G	probably benign	Het
Ptprb	A	G	10: 116,179,820 (GRCm39)	T1413A	probably benign	Het
Ptprc	A	G	1: 138,017,304 (GRCm39)	S624P	probably benign	Het
Pum3	A	G	19: 27,377,169 (GRCm39)	V441A	probably damaging	Het
Ranbp2	T	A	10: 58,315,860 (GRCm39)	D2193E	probably damaging	Het
Rbl1	A	T	2: 157,017,397 (GRCm39)		probably benign	Het
Rnf167	T	C	11: 70,540,906 (GRCm39)		probably benign	Het
Sdr9c7	T	C	10: 127,738,259 (GRCm39)	V179A	probably damaging	Het
Sema3c	A	G	5: 17,932,615 (GRCm39)	N706S	possibly damaging	Het
Stt3a	T	C	9: 36,646,762 (GRCm39)	Y617C	probably damaging	Het
Tdrd6	T	A	17: 43,936,966 (GRCm39)	S1361C	probably damaging	Het
Tha1	A	C	11: 117,760,502 (GRCm39)	S241A	probably damaging	Het
Tti1	G	A	2: 157,850,432 (GRCm39)	A269V	probably benign	Het
Ugt2a1	A	G	5: 87,633,886 (GRCm39)		probably null	Het
Vmn2r10	T	C	5: 109,143,761 (GRCm39)	T730A	possibly damaging	Het

Other mutations in Gm9772

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02232:Gm9772	APN	17	22,226,031 (GRCm39)	intron	probably benign
IGL02970:Gm9772	APN	17	22,225,540 (GRCm39)	missense	probably damaging	1.00
R1456:Gm9772	UTSW	17	22,226,099 (GRCm39)	missense	probably damaging	1.00
R2098:Gm9772	UTSW	17	22,225,618 (GRCm39)	missense	probably benign	0.02
R4628:Gm9772	UTSW	17	22,226,188 (GRCm39)	missense	probably damaging	0.99
R4647:Gm9772	UTSW	17	22,226,013 (GRCm39)	missense	possibly damaging	0.57
R7529:Gm9772	UTSW	17	22,226,140 (GRCm39)	missense	probably benign	0.21
R7627:Gm9772	UTSW	17	22,226,160 (GRCm39)	missense	probably damaging	1.00
R8810:Gm9772	UTSW	17	22,225,310 (GRCm39)	makesense	probably null
R9051:Gm9772	UTSW	17	22,225,565 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GTGACAATGTATAGAATGACCCAG -3'
(R):5'- GCATGAAGAGGGTTTTGACTC -3'

Sequencing Primer
(F):5'- AATGTATAGAATGACCCAGAACTTTG -3'
(R):5'- GCATGAAGAGGGTTTTGACTCTAAAC -3'

Posted On

2016-06-21