Mutagenetix > Incidental Mutation

Incidental Mutation 'R5638:Gm5493'

440510

Institutional Source

Beutler Lab

Gene Symbol

Gm5493

Ensembl Gene

ENSMUSG00000098164

Gene Name

predicted gene 5493

Synonyms

MMRRC Submission

043168-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R5638 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

22958918-22970482 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 22969065 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 82 (T82A)

Ref Sequence

ENSEMBL: ENSMUSP00000138596 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000182063]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000182063
AA Change: T82A

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000138596
Gene: ENSMUSG00000098164
AA Change: T82A

Domain	Start	End	E-Value	Type
KRAB	13	73	9.86e-14	SMART

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.2%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610028H24Rik	G	A	10: 76,288,729 (GRCm39)	A96T	probably benign	Het
A930018M24Rik	T	C	14: 51,134,414 (GRCm39)	D76G	possibly damaging	Het
Adamtsl3	A	T	7: 82,260,958 (GRCm39)	R1631W	probably damaging	Het
Alg5	C	T	3: 54,646,254 (GRCm39)	H40Y	probably benign	Het
B3galt1	T	C	2: 67,949,095 (GRCm39)	L270P	probably damaging	Het
Ceacam3	A	G	7: 16,893,860 (GRCm39)	Y457C	probably damaging	Het
Cenpa	A	T	5: 30,830,736 (GRCm39)	R124W	probably damaging	Het
Cfap44	A	G	16: 44,275,894 (GRCm39)	T1385A	possibly damaging	Het
Chd9	A	T	8: 91,738,078 (GRCm39)	H1570L	possibly damaging	Het
Cmtm4	T	C	8: 105,084,356 (GRCm39)	I113V	probably benign	Het
Dmxl1	T	C	18: 50,024,693 (GRCm39)	I1789T	possibly damaging	Het
Dpf3	G	A	12: 83,371,714 (GRCm39)	R174W	probably damaging	Het
Dusp26	T	C	8: 31,584,169 (GRCm39)	L92P	probably damaging	Het
Fndc7	T	A	3: 108,770,208 (GRCm39)	T659S	possibly damaging	Het
Fry	A	G	5: 150,282,546 (GRCm39)	H357R	possibly damaging	Het
G0s2	A	T	1: 192,954,859 (GRCm39)	L75H	probably damaging	Het
Herc2	T	C	7: 55,854,164 (GRCm39)	V3690A	probably benign	Het
Igf2bp3	C	A	6: 49,064,734 (GRCm39)	V537F	probably damaging	Het
Kntc1	C	T	5: 123,956,538 (GRCm39)	R2101W	possibly damaging	Het
Kpna2rt	T	C	17: 90,217,635 (GRCm39)	E37G	probably damaging	Het
Mrgpra6	G	T	7: 46,835,657 (GRCm39)	P255T	probably damaging	Het
Ncor2	A	G	5: 125,125,364 (GRCm39)	V229A	probably benign	Het
Nos1ap	T	A	1: 170,176,968 (GRCm39)	K145M	probably damaging	Het
Or6c210	T	A	10: 129,495,969 (GRCm39)	I98K	possibly damaging	Het
Or7g21	T	A	9: 19,032,676 (GRCm39)	C142S	probably benign	Het
Ppt2	C	A	17: 34,844,823 (GRCm39)	M140I	probably benign	Het
Ppwd1	A	G	13: 104,356,906 (GRCm39)	I203T	probably damaging	Het
Prpf6	A	G	2: 181,287,381 (GRCm39)	T589A	probably benign	Het
Psd4	T	C	2: 24,287,427 (GRCm39)	L453P	probably benign	Het
Ptpn14	A	G	1: 189,519,038 (GRCm39)	T23A	probably damaging	Het
Rxrb	T	C	17: 34,256,381 (GRCm39)	L374P	probably damaging	Het
Scaf4	T	C	16: 90,041,198 (GRCm39)	E710G	unknown	Het
Sik1	C	T	17: 32,069,802 (GRCm39)	V216I	probably damaging	Het
Skint8	C	A	4: 111,807,390 (GRCm39)	L359M	probably damaging	Het
Slc30a5	T	A	13: 100,950,380 (GRCm39)	K236*	probably null	Het
Slc38a4	A	C	15: 96,910,871 (GRCm39)	S135A	probably damaging	Het
Slc9a1	T	A	4: 133,139,571 (GRCm39)	V263D	probably damaging	Het
Socs2	T	C	10: 95,228,745 (GRCm39)	I168M	unknown	Het
Spag9	C	A	11: 93,959,838 (GRCm39)	D342E	probably damaging	Het
Sspo	T	C	6: 48,469,825 (GRCm39)	S4508P	possibly damaging	Het
Stat5b	C	A	11: 100,675,080 (GRCm39)	E710*	probably null	Het
Stip1	G	A	19: 7,009,883 (GRCm39)	P213L	probably damaging	Het
Tarbp1	A	T	8: 127,177,425 (GRCm39)	L749Q	probably damaging	Het
Thsd7b	T	G	1: 129,523,270 (GRCm39)	S24R	probably benign	Het
Upp2	T	C	2: 58,680,107 (GRCm39)	V293A	probably damaging	Het
Vmn2r65	C	T	7: 84,590,047 (GRCm39)	C623Y	probably damaging	Het
Vps54	T	C	11: 21,258,799 (GRCm39)	V742A	probably damaging	Het

Other mutations in Gm5493

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R4245:Gm5493	UTSW	17	22,966,199 (GRCm39)	missense	probably benign	0.39
R4676:Gm5493	UTSW	17	22,967,054 (GRCm39)	missense	probably benign	0.23
R5093:Gm5493	UTSW	17	22,966,201 (GRCm39)	missense	possibly damaging	0.68
R6020:Gm5493	UTSW	17	22,967,034 (GRCm39)	missense	probably benign	0.19
R6107:Gm5493	UTSW	17	22,967,069 (GRCm39)	missense	possibly damaging	0.68
R6275:Gm5493	UTSW	17	22,969,043 (GRCm39)	missense	probably benign	0.03
R6965:Gm5493	UTSW	17	22,967,047 (GRCm39)	missense	possibly damaging	0.71
R7581:Gm5493	UTSW	17	22,966,247 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCAGTGTTATGTGGATCAAATAT -3'
(R):5'- TCATGCTCCATGAATTTTAAGTTCC -3'

Sequencing Primer
(F):5'- AAGTTTAAGCCAGGTCCAGTGTCTC -3'
(R):5'- CTCATGCTTTCATGTTTATAGG -3'

Posted On

2016-11-08