Mutagenetix > Incidental Mutation

Incidental Mutation 'R5992:Gm10271'

480900

Institutional Source

Beutler Lab

Gene Symbol

Gm10271

Ensembl Gene

ENSMUSG00000069518

Gene Name

predicted gene 10271

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

R5992 (G1)

Quality Score

189.009

Status

Not validated

Chromosome

Chromosomal Location

116956824-116972609 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 116972592 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 6 (F6L)

Ref Sequence

ENSEMBL: ENSMUSP00000089803 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092165]

AlphaFold

F6WY25

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000033651

Predicted Effect

probably damaging
Transcript: ENSMUST00000092165
AA Change: F6L

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000089803
Gene: ENSMUSG00000069518
AA Change: F6L

Domain	Start	End	E-Value	Type
transmembrane domain	4	35	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176045

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219792

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.4%
20x: 91.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	T	A	17: 45,508,623 (GRCm38)	L188*	probably null	Het
Acod1	C	T	14: 103,055,035 (GRCm38)	R332C	probably damaging	Het
Adamts3	T	A	5: 89,691,335 (GRCm38)	K852M	probably damaging	Het
Adm	A	T	7: 110,627,696 (GRCm38)		probably benign	Het
Aff4	A	G	11: 53,373,010 (GRCm38)	S286G	probably damaging	Het
Ank2	A	G	3: 126,959,651 (GRCm38)		probably null	Het
Aqr	A	T	2: 114,143,049 (GRCm38)	Y427*	probably null	Het
Arid1b	C	A	17: 4,994,956 (GRCm38)		probably benign	Het
Arpp21	T	A	9: 112,143,485 (GRCm38)	R259*	probably null	Het
Cep290	C	T	10: 100,543,321 (GRCm38)	A55V	possibly damaging	Het
Chsy3	GT	G	18: 59,176,166 (GRCm38)	163	probably null	Het
Clcn2	T	C	16: 20,713,654 (GRCm38)	E68G	possibly damaging	Het
Corin	T	A	5: 72,316,389 (GRCm38)	H699L	probably benign	Het
Cyld	T	C	8: 88,733,053 (GRCm38)	Y446H	probably damaging	Het
Dcst1	T	A	3: 89,352,576 (GRCm38)	E613V	probably damaging	Het
Dlk1	T	C	12: 109,455,581 (GRCm38)	C74R	probably damaging	Het
Dnah12	A	C	14: 26,697,341 (GRCm38)	K128T	probably benign	Het
Dspp	T	A	5: 104,178,451 (GRCm38)	S893R	unknown	Het
Dtl	A	T	1: 191,568,572 (GRCm38)		probably null	Het
F2rl1	T	A	13: 95,514,270 (GRCm38)	S35C	probably benign	Het
Fcgbp	A	T	7: 28,120,534 (GRCm38)	Y2562F	probably benign	Het
Fgf10	A	T	13: 118,715,508 (GRCm38)	D42V	probably benign	Het
Gm21190	T	A	5: 15,524,851 (GRCm38)	E256D	probably damaging	Het
Gm5157	A	G	7: 21,185,421 (GRCm38)	S66P	probably damaging	Het
Gm884	A	T	11: 103,613,792 (GRCm38)	M2450K	possibly damaging	Het
Hal	T	G	10: 93,490,916 (GRCm38)	L138R	probably damaging	Het
Hsd17b3	T	C	13: 64,059,470 (GRCm38)		probably null	Het
Lrsam1	T	C	2: 32,955,222 (GRCm38)	T94A	probably benign	Het
Macc1	T	C	12: 119,447,585 (GRCm38)	V696A	probably damaging	Het
Magi2	G	A	5: 19,227,291 (GRCm38)	M1I	probably null	Het
March7	C	A	2: 60,245,220 (GRCm38)	N674K	probably benign	Het
Mfap1b	A	G	2: 121,470,295 (GRCm38)	V34A	probably benign	Het
Mob3b	G	A	4: 35,084,069 (GRCm38)	S40L	probably benign	Het
Ndufs2	A	T	1: 171,236,418 (GRCm38)	V386E	probably damaging	Het
Nfic	C	T	10: 81,420,747 (GRCm38)	A19T	probably damaging	Het
Nfs1	G	A	2: 156,134,453 (GRCm38)	R174W	probably damaging	Het
Nin	G	T	12: 70,045,524 (GRCm38)	S670R	possibly damaging	Het
Nrxn1	T	C	17: 90,623,507 (GRCm38)	I754V	probably benign	Het
Nwd1	T	C	8: 72,653,573 (GRCm38)		probably null	Het
Olfr1231	T	A	2: 89,303,359 (GRCm38)	T78S	possibly damaging	Het
Olfr1238	T	A	2: 89,406,879 (GRCm38)	M67L	probably benign	Het
Olfr575	G	T	7: 102,955,009 (GRCm38)	N197K	probably benign	Het
Pcdhgb8	A	G	18: 37,763,449 (GRCm38)	E524G	probably damaging	Het
Phlpp1	A	T	1: 106,318,993 (GRCm38)	R638*	probably null	Het
Pkmyt1	G	C	17: 23,735,326 (GRCm38)	W360S	probably benign	Het
Plxnd1	C	A	6: 115,967,787 (GRCm38)		probably null	Het
Poldip3	A	T	15: 83,129,229 (GRCm38)	N322K	probably damaging	Het
Prmt3	A	T	7: 49,828,947 (GRCm38)	I419L	probably benign	Het
Prss36	A	T	7: 127,944,830 (GRCm38)	V123E	probably damaging	Het
Prss58	A	G	6: 40,897,769 (GRCm38)	I46T	probably damaging	Het
Rac1	T	C	5: 143,506,998 (GRCm38)		probably benign	Het
Rb1cc1	A	G	1: 6,233,996 (GRCm38)	Y36C	probably damaging	Het
Rif1	C	G	2: 52,095,844 (GRCm38)	L614V	probably damaging	Het
Rnd2	C	T	11: 101,468,999 (GRCm38)	L57F	probably damaging	Het
Rp1	A	T	1: 4,148,703 (GRCm38)	F951L	unknown	Het
Rps6ka5	G	T	12: 100,575,250 (GRCm38)	P417T	possibly damaging	Het
Ryr1	A	G	7: 29,067,637 (GRCm38)	W2967R	probably damaging	Het
Sacs	T	A	14: 61,205,543 (GRCm38)	S1679R	probably damaging	Het
Scn1a	A	C	2: 66,335,456 (GRCm38)	W153G	probably damaging	Het
Serpinb7	A	G	1: 107,445,996 (GRCm38)	Y114C	probably damaging	Het
Son	T	C	16: 91,658,904 (GRCm38)	M1513T	probably benign	Het
Spag8	C	T	4: 43,651,534 (GRCm38)	V447M	probably benign	Het
St3gal2	T	A	8: 110,969,553 (GRCm38)	Y257N	probably damaging	Het
Tars	A	T	15: 11,397,196 (GRCm38)	D40E	probably damaging	Het
Tlr3	T	C	8: 45,397,814 (GRCm38)	H158R	probably benign	Het
Tppp2	G	T	14: 51,918,935 (GRCm38)	V50L	probably benign	Het
Trrap	T	C	5: 144,810,184 (GRCm38)	S1503P	probably benign	Het
Ttll4	T	G	1: 74,685,391 (GRCm38)	S573R	probably damaging	Het
Vmn2r104	A	T	17: 20,029,485 (GRCm38)	N841K	probably damaging	Het
Vmn2r3	A	T	3: 64,259,647 (GRCm38)	C688S	probably damaging	Het
Vps16	T	C	2: 130,424,449 (GRCm38)		probably null	Het
Zfp608	G	A	18: 54,899,248 (GRCm38)	T540I	probably benign	Het
Zfp775	G	A	6: 48,619,816 (GRCm38)	R208Q	probably damaging	Het

Other mutations in Gm10271

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1778:Gm10271	UTSW	10	116,961,939 (GRCm38)	splice site	probably benign
R1795:Gm10271	UTSW	10	116,956,841 (GRCm38)	missense	unknown
R2897:Gm10271	UTSW	10	116,972,590 (GRCm38)	missense	probably damaging	0.99
R3852:Gm10271	UTSW	10	116,956,874 (GRCm38)	nonsense	probably null
R4112:Gm10271	UTSW	10	116,968,038 (GRCm38)	intron	probably benign
R5726:Gm10271	UTSW	10	116,956,887 (GRCm38)	critical splice acceptor site	probably null
R5987:Gm10271	UTSW	10	116,972,592 (GRCm38)	missense	probably damaging	0.99
R5988:Gm10271	UTSW	10	116,972,592 (GRCm38)	missense	probably damaging	0.99
R5989:Gm10271	UTSW	10	116,972,592 (GRCm38)	missense	probably damaging	0.99
R5990:Gm10271	UTSW	10	116,972,592 (GRCm38)	missense	probably damaging	0.99
R9232:Gm10271	UTSW	10	116,972,574 (GRCm38)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGCAGACACTTGGGAGACAG -3'
(R):5'- CCGAGGCCAATAAAGACTGG -3'

Sequencing Primer
(F):5'- CGGGCAGACTCACCTACTTC -3'
(R):5'- GCCAATAAAGACTGGTTTTGGTCCC -3'

Posted On

2017-06-26