Mutagenetix > Incidental Mutation

Incidental Mutation 'R2495:Gm5724'

250963

Institutional Source

Beutler Lab

Gene Symbol

Gm5724

Ensembl Gene

ENSMUSG00000084927

Gene Name

predicted gene 5724

Synonyms

MMRRC Submission

040409-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R2495 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

141708118-141773810 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 141765777 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 69 (M69I)

Ref Sequence

ENSEMBL: ENSMUSP00000117177 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000148411]

AlphaFold

L7N264

Predicted Effect

probably benign
Transcript: ENSMUST00000148411
AA Change: M69I

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000117177
Gene: ENSMUSG00000084927
AA Change: M69I

Domain	Start	End	E-Value	Type
Pfam:MFS_1	22	405	3.4e-26	PFAM
KAZAL	438	484	1.71e0	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

98% (63/64)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810062G17Rik	T	C	3: 36,481,960 (GRCm38)	F125S	unknown	Het
Abhd17c	C	T	7: 84,110,676 (GRCm38)	W290*	probably null	Het
Acsl5	A	T	19: 55,293,599 (GRCm38)	K536*	probably null	Het
Adamts14	A	T	10: 61,198,970 (GRCm38)		probably null	Het
Agbl3	A	G	6: 34,846,764 (GRCm38)	H788R	probably damaging	Het
Agrp	T	C	8: 105,566,776 (GRCm38)	N126D	possibly damaging	Het
Ambn	T	C	5: 88,467,804 (GRCm38)	I349T	probably benign	Het
Ank1	T	C	8: 23,132,264 (GRCm38)	W1610R	probably damaging	Het
Aox3	T	C	1: 58,188,408 (GRCm38)	L1224P	probably damaging	Het
Arhgef28	A	T	13: 98,029,373 (GRCm38)		probably benign	Het
Bcl11b	G	A	12: 107,915,447 (GRCm38)	H798Y	possibly damaging	Het
Capn11	T	A	17: 45,638,763 (GRCm38)	M426L	probably damaging	Het
Cep95	A	G	11: 106,809,282 (GRCm38)	K290E	possibly damaging	Het
Cic	A	G	7: 25,291,776 (GRCm38)		probably benign	Het
Cnbd1	A	T	4: 18,860,579 (GRCm38)	M389K	probably damaging	Het
Cnksr1	A	T	4: 134,232,162 (GRCm38)	L387Q	probably benign	Het
Cntrob	G	T	11: 69,322,923 (GRCm38)	P14T	probably damaging	Het
Crmp1	G	A	5: 37,246,097 (GRCm38)		probably null	Het
Dido1	A	G	2: 180,689,388 (GRCm38)	V89A	probably benign	Het
Dnah7a	T	A	1: 53,605,881 (GRCm38)	I999F	probably damaging	Het
Dsp	T	A	13: 38,193,477 (GRCm38)	L1746Q	possibly damaging	Het
Dst	T	C	1: 34,199,373 (GRCm38)	S3897P	probably damaging	Het
Fbxo10	A	G	4: 45,040,545 (GRCm38)	F887L	probably benign	Het
Gm21961	T	A	15: 65,014,873 (GRCm38)	H11L	unknown	Het
Gm4559	A	T	7: 142,273,820 (GRCm38)	C182S	unknown	Het
Golga3	T	A	5: 110,207,596 (GRCm38)	S939T	probably damaging	Het
Got2	A	G	8: 95,888,290 (GRCm38)	S6P	possibly damaging	Het
Gpatch8	A	T	11: 102,478,481 (GRCm38)	H1410Q	probably damaging	Het
Gpx5	T	A	13: 21,291,440 (GRCm38)	T39S	probably benign	Het
Grin2b	T	C	6: 135,733,182 (GRCm38)	Y1122C	probably damaging	Het
Gsn	A	C	2: 35,303,193 (GRCm38)	N538T	probably damaging	Het
Helz2	A	G	2: 181,232,912 (GRCm38)	S1930P	probably damaging	Het
Krt6b	A	T	15: 101,678,322 (GRCm38)	F286Y	probably damaging	Het
Lrriq1	G	A	10: 103,202,381 (GRCm38)	R854C	probably damaging	Het
Mipol1	A	T	12: 57,460,990 (GRCm38)		probably benign	Het
Mmp19	A	G	10: 128,790,950 (GRCm38)		probably benign	Het
Msc	T	G	1: 14,755,249 (GRCm38)	Y167S	probably benign	Het
Mycbp2	T	G	14: 103,200,118 (GRCm38)	K2103Q	probably damaging	Het
Myh11	C	A	16: 14,205,557 (GRCm38)	D1586Y	probably damaging	Het
Nol6	A	T	4: 41,118,427 (GRCm38)	D791E	probably damaging	Het
Pcm1	A	G	8: 41,293,579 (GRCm38)	T1272A	probably benign	Het
Phgdh	A	G	3: 98,339,789 (GRCm38)	L15P	probably damaging	Het
Ptprk	A	T	10: 28,475,078 (GRCm38)		probably benign	Het
Ralgapa2	G	T	2: 146,361,400 (GRCm38)	D1091E	possibly damaging	Het
Rbbp8nl	C	A	2: 180,279,102 (GRCm38)	K496N	probably null	Het
Rbm26	T	C	14: 105,151,312 (GRCm38)		probably benign	Het
Rfx6	A	C	10: 51,726,675 (GRCm38)		probably benign	Het
Rras	G	A	7: 45,018,064 (GRCm38)	G17R	probably damaging	Het
Shisa6	G	A	11: 66,217,633 (GRCm38)	P473S	probably damaging	Het
Slc9a3	A	G	13: 74,158,703 (GRCm38)	K316E	probably damaging	Het
Spata31d1a	A	G	13: 59,701,993 (GRCm38)	S774P	possibly damaging	Het
Spsb4	T	C	9: 96,995,787 (GRCm38)	Y161C	probably damaging	Het
Taf3	G	T	2: 9,952,833 (GRCm38)	N174K	probably damaging	Het
Tectb	C	G	19: 55,180,999 (GRCm38)		probably benign	Het
Trnt1	T	A	6: 106,773,369 (GRCm38)	V78E	possibly damaging	Het
Ubox5	A	T	2: 130,599,521 (GRCm38)	C415*	probably null	Het
Ucn2	C	T	9: 108,986,409 (GRCm38)	P80S	possibly damaging	Het
Vmn2r10	G	A	5: 108,996,095 (GRCm38)	T663I	probably damaging	Het
Wdfy1	A	T	1: 79,707,505 (GRCm38)	F337L	probably null	Het
Zfp287	A	T	11: 62,714,633 (GRCm38)	C483S	probably damaging	Het
Zyg11b	A	G	4: 108,244,724 (GRCm38)		probably null	Het

Other mutations in Gm5724

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01023:Gm5724	APN	6	141,754,429 (GRCm38)	missense	probably benign	0.14
IGL01347:Gm5724	APN	6	141,754,466 (GRCm38)	nonsense	probably null
IGL01539:Gm5724	APN	6	141,727,607 (GRCm38)	missense	possibly damaging	0.88
IGL01613:Gm5724	APN	6	141,713,214 (GRCm38)	missense	possibly damaging	0.67
IGL02060:Gm5724	APN	6	141,754,408 (GRCm38)	missense	probably benign	0.00
IGL02063:Gm5724	APN	6	141,738,889 (GRCm38)	missense	probably benign	0.01
IGL02126:Gm5724	APN	6	141,739,013 (GRCm38)	missense	probably benign	0.29
IGL02214:Gm5724	APN	6	141,723,185 (GRCm38)	missense	possibly damaging	0.50
IGL02630:Gm5724	APN	6	141,723,110 (GRCm38)	missense	probably damaging	1.00
R0966:Gm5724	UTSW	6	141,727,573 (GRCm38)	missense	probably benign	0.00
R1082:Gm5724	UTSW	6	141,712,133 (GRCm38)	missense	probably damaging	1.00
R1433:Gm5724	UTSW	6	141,765,703 (GRCm38)	missense	probably benign	0.00
R1571:Gm5724	UTSW	6	141,754,409 (GRCm38)	nonsense	probably null
R1765:Gm5724	UTSW	6	141,754,358 (GRCm38)	splice site	probably benign
R2055:Gm5724	UTSW	6	141,725,455 (GRCm38)	missense	probably benign	0.33
R2174:Gm5724	UTSW	6	141,727,593 (GRCm38)	nonsense	probably null
R2857:Gm5724	UTSW	6	141,744,538 (GRCm38)	missense	probably benign	0.35
R3551:Gm5724	UTSW	6	141,708,596 (GRCm38)	missense	probably benign	0.20
R3824:Gm5724	UTSW	6	141,754,374 (GRCm38)	missense	possibly damaging	0.50
R3912:Gm5724	UTSW	6	141,727,636 (GRCm38)	missense	probably damaging	0.97
R3942:Gm5724	UTSW	6	141,727,714 (GRCm38)	missense	probably damaging	0.98
R4161:Gm5724	UTSW	6	141,708,596 (GRCm38)	missense	probably benign	0.20
R4168:Gm5724	UTSW	6	141,738,947 (GRCm38)	missense	probably benign	0.03
R4395:Gm5724	UTSW	6	141,712,118 (GRCm38)	missense	probably benign	0.02
R4720:Gm5724	UTSW	6	141,723,222 (GRCm38)	missense	probably damaging	1.00
R4732:Gm5724	UTSW	6	141,723,179 (GRCm38)	missense	probably benign	0.01
R4733:Gm5724	UTSW	6	141,723,179 (GRCm38)	missense	probably benign	0.01
R4794:Gm5724	UTSW	6	141,767,562 (GRCm38)	missense	probably benign	0.11
R5062:Gm5724	UTSW	6	141,767,454 (GRCm38)	missense	possibly damaging	0.46
R5389:Gm5724	UTSW	6	141,740,467 (GRCm38)	missense	probably benign	0.12
R5419:Gm5724	UTSW	6	141,736,100 (GRCm38)	splice site	probably null
R5423:Gm5724	UTSW	6	141,744,462 (GRCm38)	missense	probably damaging	1.00
R5704:Gm5724	UTSW	6	141,713,254 (GRCm38)	missense	probably benign	0.00
R5973:Gm5724	UTSW	6	141,754,456 (GRCm38)	missense	probably benign	0.01
R6041:Gm5724	UTSW	6	141,739,038 (GRCm38)	missense	probably benign	0.11
R6284:Gm5724	UTSW	6	141,725,393 (GRCm38)	missense	probably damaging	1.00
R6395:Gm5724	UTSW	6	141,723,092 (GRCm38)	splice site	probably null
R6993:Gm5724	UTSW	6	141,765,742 (GRCm38)	missense	possibly damaging	0.94
R7149:Gm5724	UTSW	6	141,744,452 (GRCm38)	missense	probably damaging	1.00
R7159:Gm5724	UTSW	6	141,773,778 (GRCm38)	start codon destroyed	probably damaging	1.00
R7627:Gm5724	UTSW	6	141,744,545 (GRCm38)	missense	probably damaging	1.00
R7784:Gm5724	UTSW	6	141,713,193 (GRCm38)	critical splice donor site	probably null
R7873:Gm5724	UTSW	6	141,727,722 (GRCm38)	missense	probably benign	0.44
R8670:Gm5724	UTSW	6	141,765,742 (GRCm38)	missense	possibly damaging	0.94
R8720:Gm5724	UTSW	6	141,723,126 (GRCm38)	missense	probably benign	0.01
R9124:Gm5724	UTSW	6	141,723,104 (GRCm38)	missense	possibly damaging	0.81
R9238:Gm5724	UTSW	6	141,740,427 (GRCm38)	missense	probably damaging	0.98
R9381:Gm5724	UTSW	6	141,765,764 (GRCm38)	missense	probably benign	0.00
X0020:Gm5724	UTSW	6	141,754,365 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGAGCCTCATTTCCTGTAGGTG -3'
(R):5'- AAATATCCTAAGCTCCTGTCCCTG -3'

Sequencing Primer
(F):5'- GAGCCTCATTTCCTGTAGGTGAAAAG -3'
(R):5'- TTGATGATATAGCTGCAAGGAGCTC -3'

Posted On

2014-12-04