Mutagenetix > Incidental Mutation

Incidental Mutation 'R6011:Gm7247'

479771

Institutional Source

Beutler Lab

Gene Symbol

Gm7247

Ensembl Gene

ENSMUSG00000068399

Gene Name

predicted gene 7247

Synonyms

MMRRC Submission

043253-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.158) question?

Stock #

R6011 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

51601678-51765127 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 51601805 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Phenylalanine at position 26 (S26F)

Ref Sequence

ENSEMBL: ENSMUSP00000125409 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000162998]

AlphaFold

Q6UY52

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162079

Predicted Effect

probably benign
Transcript: ENSMUST00000162998
AA Change: S26F

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000125409
Gene: ENSMUSG00000068399
AA Change: S26F

Domain	Start	End	E-Value	Type
Pfam:Takusan	35	115	2.2e-25	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228571

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	A	11: 84,136,570 (GRCm39)	N533K	probably benign	Het
Adamts15	G	T	9: 30,814,082 (GRCm39)	H694Q	probably damaging	Het
Adcy5	T	C	16: 34,977,598 (GRCm39)	L377P	probably benign	Het
Add2	T	C	6: 86,075,607 (GRCm39)	L252P	probably damaging	Het
Amer1	ATTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	ATTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	X: 94,470,889 (GRCm39)		probably benign	Het
Ankrd13d	A	G	19: 4,331,962 (GRCm39)	L39P	probably damaging	Het
Asic1	G	T	15: 99,596,960 (GRCm39)	A541S	probably benign	Het
Bhmt1b	A	G	18: 87,774,663 (GRCm39)	E62G	probably damaging	Het
Bpifb2	A	G	2: 153,731,496 (GRCm39)		probably null	Het
Catsper3	A	G	13: 55,934,305 (GRCm39)	I75M	probably damaging	Het
Ccser2	T	C	14: 36,601,532 (GRCm39)	E837G	probably benign	Het
Clasp2	C	T	9: 113,705,315 (GRCm39)	P557L	probably benign	Het
Clstn2	C	T	9: 97,338,579 (GRCm39)	R860Q	probably benign	Het
Cplx3	A	T	9: 57,523,038 (GRCm39)	D140E	probably damaging	Het
Cyp2c66	A	G	19: 39,130,380 (GRCm39)	K72E	probably benign	Het
Cyp3a44	A	G	5: 145,738,084 (GRCm39)		probably null	Het
Disp2	G	A	2: 118,621,301 (GRCm39)	V678I	possibly damaging	Het
Dock4	T	C	12: 40,867,756 (GRCm39)		probably null	Het
Eml3	T	C	19: 8,916,471 (GRCm39)	Y688H	probably damaging	Het
Fam187a	A	G	11: 102,776,267 (GRCm39)	K24E	probably damaging	Het
Fhit	T	C	14: 9,870,068 (GRCm38)	K134E	probably benign	Het
Foxl3	A	G	5: 138,807,374 (GRCm39)	*217W	probably null	Het
Gm16485	A	T	9: 8,972,454 (GRCm39)		probably benign	Het
Hmgxb3	G	A	18: 61,296,096 (GRCm39)	T304I	probably damaging	Het
Lgsn	A	G	1: 31,242,847 (GRCm39)	S310G	probably damaging	Het
Muc21	T	A	17: 35,933,074 (GRCm39)		probably benign	Het
Niban2	T	C	2: 32,812,877 (GRCm39)	Y482H	probably damaging	Het
Or12e13	A	G	2: 87,664,259 (GRCm39)	N292S	probably damaging	Het
Or4k42	C	A	2: 111,320,192 (GRCm39)	A104S	probably benign	Het
Or6c8b	A	T	10: 128,882,508 (GRCm39)	H141Q	probably benign	Het
Or7g25	T	A	9: 19,159,807 (GRCm39)	E296V	probably damaging	Het
Or9i1b	G	A	19: 13,896,521 (GRCm39)	V46I	probably benign	Het
Pelo	A	G	13: 115,226,302 (GRCm39)	S52P	probably benign	Het
Prune2	A	G	19: 17,096,080 (GRCm39)	N528S	probably benign	Het
Rfc3	T	A	5: 151,567,184 (GRCm39)	I291L	probably damaging	Het
Rpl35	A	T	2: 38,894,813 (GRCm39)		probably null	Het
Sectm1b	C	T	11: 120,946,704 (GRCm39)	V64I	possibly damaging	Het
Serpina12	A	G	12: 104,001,993 (GRCm39)	M241T	probably damaging	Het
Serpina1a	T	A	12: 103,823,728 (GRCm39)	D195V	probably damaging	Het
Sesn2	C	T	4: 132,226,708 (GRCm39)	V129M	probably damaging	Het
Slc4a1	A	C	11: 102,243,357 (GRCm39)	V758G	probably damaging	Het
Tmx4	A	T	2: 134,481,756 (GRCm39)	Y56N	probably damaging	Het
Traj50	T	C	14: 54,405,091 (GRCm39)		probably benign	Het
Trio	T	G	15: 27,735,631 (GRCm39)	K2820Q	probably damaging	Het
Ttc28	G	A	5: 111,434,309 (GRCm39)	G2417S	probably benign	Het
Usp32	T	C	11: 84,922,923 (GRCm39)	D665G	possibly damaging	Het

Other mutations in Gm7247

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00162:Gm7247	APN	14	51,760,962 (GRCm39)	missense	possibly damaging	0.73
IGL01776:Gm7247	APN	14	51,759,356 (GRCm39)	missense	possibly damaging	0.86
IGL01836:Gm7247	APN	14	51,602,853 (GRCm39)	missense	probably damaging	1.00
IGL02270:Gm7247	APN	14	51,759,341 (GRCm39)	missense	probably benign	0.10
IGL02961:Gm7247	APN	14	51,602,812 (GRCm39)	missense	probably damaging	1.00
IGL03390:Gm7247	APN	14	51,760,914 (GRCm39)	missense	probably benign
R0054:Gm7247	UTSW	14	51,807,057 (GRCm39)	utr 3 prime	probably benign
R0413:Gm7247	UTSW	14	51,760,929 (GRCm39)	missense	probably benign	0.33
R1143:Gm7247	UTSW	14	51,760,875 (GRCm39)	missense	probably benign	0.33
R2018:Gm7247	UTSW	14	51,602,804 (GRCm39)	missense	possibly damaging	0.60
R2019:Gm7247	UTSW	14	51,602,804 (GRCm39)	missense	possibly damaging	0.60
R2117:Gm7247	UTSW	14	51,602,792 (GRCm39)	missense	probably damaging	0.99
R3971:Gm7247	UTSW	14	51,602,841 (GRCm39)	missense	probably damaging	1.00
R4649:Gm7247	UTSW	14	51,807,051 (GRCm39)	critical splice acceptor site	probably null
R5109:Gm7247	UTSW	14	51,602,774 (GRCm39)	missense	probably damaging	0.98
R5773:Gm7247	UTSW	14	51,601,805 (GRCm39)	missense	probably benign	0.01
R5775:Gm7247	UTSW	14	51,601,805 (GRCm39)	missense	probably benign	0.01
R5776:Gm7247	UTSW	14	51,601,805 (GRCm39)	missense	probably benign	0.01
R5994:Gm7247	UTSW	14	51,601,805 (GRCm39)	missense	probably benign	0.01
R5995:Gm7247	UTSW	14	51,601,805 (GRCm39)	missense	probably benign	0.01
R5996:Gm7247	UTSW	14	51,601,805 (GRCm39)	missense	probably benign	0.01
R6008:Gm7247	UTSW	14	51,601,805 (GRCm39)	missense	probably benign	0.01
R6009:Gm7247	UTSW	14	51,601,805 (GRCm39)	missense	probably benign	0.01
R6010:Gm7247	UTSW	14	51,601,805 (GRCm39)	missense	probably benign	0.01
R6193:Gm7247	UTSW	14	51,759,299 (GRCm39)	missense	possibly damaging	0.89
R6986:Gm7247	UTSW	14	51,602,832 (GRCm39)	missense	possibly damaging	0.95
R7226:Gm7247	UTSW	14	51,602,808 (GRCm39)	missense	probably damaging	0.97
R7331:Gm7247	UTSW	14	51,601,792 (GRCm39)	missense	probably damaging	0.98
R8878:Gm7247	UTSW	14	51,666,210 (GRCm39)	intron	probably benign
RF021:Gm7247	UTSW	14	51,601,781 (GRCm39)	small deletion	probably benign
RF046:Gm7247	UTSW	14	51,601,781 (GRCm39)	small deletion	probably benign

Predicted Primers

PCR Primer
(F):5'- AGGAGAGAACTAGAATCTTCTGTGATG -3'
(R):5'- CAGGCTTGTCAATTCCTGCC -3'

Sequencing Primer
(F):5'- CTAGAATCTTCTGTGATGTCACTTG -3'
(R):5'- CTGGTCTACAAAGTGAGCTCCAG -3'

Posted On

2017-06-26