Mutagenetix > Incidental Mutation

Incidental Mutation 'R3756:Gm9970'

271433

Institutional Source

Beutler Lab

Gene Symbol

Gm9970

Ensembl Gene

ENSMUSG00000055424

Gene Name

predicted gene 9970

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.095) question?

Stock #

R3756 (G1)

Quality Score

208

Status

Validated

Chromosome

Chromosomal Location

31397810-31398576 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to C at 31398117 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000143899 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031034] [ENSMUST00000068997] [ENSMUST00000201259] [ENSMUST00000202505] [ENSMUST00000202576] [ENSMUST00000202842]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000031034

SMART Domains

Protein: ENSMUSP00000031034
Gene: ENSMUSG00000029148

Domain	Start	End	E-Value	Type
low complexity region	27	60	N/A	INTRINSIC
Pfam:Pkinase_Tyr	80	324	5.8e-26	PFAM
Pfam:Pkinase	80	327	1e-26	PFAM
low complexity region	412	436	N/A	INTRINSIC
low complexity region	459	476	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000068997
AA Change: R154G

SMART Domains

Protein: ENSMUSP00000070496
Gene: ENSMUSG00000055424
AA Change: R154G

Domain	Start	End	E-Value	Type
low complexity region	60	76	N/A	INTRINSIC
low complexity region	78	101	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200722

Predicted Effect

probably benign
Transcript: ENSMUST00000201259

Predicted Effect

probably benign
Transcript: ENSMUST00000202505

SMART Domains

Protein: ENSMUSP00000144292
Gene: ENSMUSG00000029148

Domain	Start	End	E-Value	Type
STYKc	14	184	1.3e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000202576

SMART Domains

Protein: ENSMUSP00000143872
Gene: ENSMUSG00000029148

Domain	Start	End	E-Value	Type
low complexity region	27	60	N/A	INTRINSIC
Pfam:Pkinase	79	335	1e-24	PFAM
Pfam:Pkinase_Tyr	81	332	6.5e-25	PFAM
low complexity region	420	444	N/A	INTRINSIC
low complexity region	467	484	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000202842

SMART Domains

Protein: ENSMUSP00000143899
Gene: ENSMUSG00000029148

Domain	Start	End	E-Value	Type
Pfam:Pkinase	2	88	4.8e-5	PFAM
Pfam:Pkinase_Tyr	3	88	1.8e-7	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202875

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.1%

Validation Efficiency

98% (39/40)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atad2	A	G	15: 57,963,119 (GRCm39)	C805R	probably benign	Het
Atf7ip	T	A	6: 136,537,815 (GRCm39)	N357K	probably benign	Het
Atp7a	T	A	X: 105,145,449 (GRCm39)		probably null	Het
Cdc16	T	C	8: 13,827,609 (GRCm39)		probably null	Het
Cdh26	T	A	2: 178,111,794 (GRCm39)		probably benign	Het
Ctdp1	A	T	18: 80,495,566 (GRCm39)	S273T	probably damaging	Het
Cyb5d1	G	T	11: 69,284,658 (GRCm39)	R165S	probably damaging	Het
Ddhd1	T	C	14: 45,848,030 (GRCm39)	K546R	probably benign	Het
Ddhd1	A	T	14: 45,894,720 (GRCm39)	V250E	probably damaging	Het
Dnm1l	G	T	16: 16,139,476 (GRCm39)	A406D	possibly damaging	Het
Efs	G	A	14: 55,157,879 (GRCm39)		probably benign	Het
Ephb1	A	C	9: 101,918,238 (GRCm39)	S424A	probably benign	Het
Erich3	A	G	3: 154,470,215 (GRCm39)	T83A	possibly damaging	Het
Erich3	A	G	3: 154,469,958 (GRCm39)		probably benign	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
H2az2	A	G	11: 6,383,761 (GRCm39)	V53A	possibly damaging	Het
Inpp5d	G	A	1: 87,629,130 (GRCm39)		probably benign	Het
Lhcgr	A	G	17: 89,061,284 (GRCm39)	S256P	possibly damaging	Het
Lrch4	T	A	5: 137,635,992 (GRCm39)	D348E	probably damaging	Het
Mettl13	T	C	1: 162,371,789 (GRCm39)	E360G	probably damaging	Het
Mtss2	C	T	8: 111,456,692 (GRCm39)	S192L	probably damaging	Het
Myh8	G	A	11: 67,175,443 (GRCm39)		probably benign	Het
Myom2	T	A	8: 15,152,650 (GRCm39)	Y666N	probably benign	Het
Pcdha8	G	A	18: 37,126,741 (GRCm39)	V408M	probably damaging	Het
Pcdhb3	T	C	18: 37,435,878 (GRCm39)	F615L	probably damaging	Het
Pitrm1	T	C	13: 6,608,271 (GRCm39)	L333P	probably damaging	Het
Plxnb1	G	T	9: 108,942,526 (GRCm39)		probably benign	Het
Poldip3	A	G	15: 83,015,676 (GRCm39)		probably benign	Het
Rbmx2	T	A	X: 47,797,890 (GRCm39)	S143T	possibly damaging	Het
Rgl2	C	A	17: 34,151,571 (GRCm39)	A205D	probably benign	Het
Rundc3a	A	G	11: 102,290,085 (GRCm39)	I175V	possibly damaging	Het
Rxra	A	C	2: 27,631,923 (GRCm39)	Q198P	probably damaging	Het
Slc25a36	A	T	9: 96,982,208 (GRCm39)	Y42*	probably null	Het
Slc4a5	A	G	6: 83,265,285 (GRCm39)	D693G	probably benign	Het
Tmem86b	A	G	7: 4,631,623 (GRCm39)	L138P	probably damaging	Het
Trappc13	C	T	13: 104,305,068 (GRCm39)	D40N	probably benign	Het
Vmn1r39	T	C	6: 66,781,863 (GRCm39)	S152G	probably damaging	Het
Zbbx	C	T	3: 75,012,978 (GRCm39)	G151E	probably damaging	Het
Zfp35	T	C	18: 24,135,982 (GRCm39)	C109R	possibly damaging	Het

Other mutations in Gm9970

Allele	Source	Chr	Coord	Type	Predicted Effect
R0346:Gm9970	UTSW	5	31,398,182 (GRCm39)	unclassified	probably benign
R4732:Gm9970	UTSW	5	31,398,410 (GRCm39)	intron	probably benign
R4798:Gm9970	UTSW	5	31,398,429 (GRCm39)	intron	probably benign
R9166:Gm9970	UTSW	5	31,398,345 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AAAGGCTGCGTCTTCCGTTC -3'
(R):5'- CTGACTCCCGAGAAAGCAGG -3'

Sequencing Primer
(F):5'- TCCTTTTGTCTTCTTAGAGGATTAGG -3'
(R):5'- AGGGCCTCTTTCTCCGGAG -3'

Posted On

2015-03-18