Mutagenetix > Incidental Mutation

Incidental Mutation 'R1620:Gm11559'

174624

Institutional Source

Beutler Lab

Gene Symbol

Gm11559

Ensembl Gene

ENSMUSG00000090225

Gene Name

predicted gene 11559

Synonyms

MMRRC Submission

039657-MU

Accession Numbers

Essential gene?

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

Stock #

R1620 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

99755302-99756397 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 99755882 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 177 (L177Q)

Ref Sequence

ENSEMBL: ENSMUSP00000090367 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092694]

AlphaFold

Q9D3H7

Predicted Effect

unknown
Transcript: ENSMUST00000092694
AA Change: L177Q

SMART Domains

Protein: ENSMUSP00000090367
Gene: ENSMUSG00000090225
AA Change: L177Q

Domain	Start	End	E-Value	Type
Pfam:Keratin_B2_2	49	88	4.3e-6	PFAM
Pfam:Keratin_B2_2	84	127	9.9e-14	PFAM
Pfam:Keratin_B2_2	127	169	5.5e-11	PFAM
low complexity region	175	191	N/A	INTRINSIC

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.6%
20x: 90.1%

Validation Efficiency

95% (58/61)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp2c2	T	C	8: 120,475,865 (GRCm39)	V586A	probably benign	Het
Atp8a2	T	A	14: 60,028,632 (GRCm39)	H945L	probably benign	Het
Bfar	G	T	16: 13,506,710 (GRCm39)	V187F	probably damaging	Het
Capn2	A	T	1: 182,344,702 (GRCm39)	I73N	probably damaging	Het
Cfc1	C	A	1: 34,575,554 (GRCm39)	A76E	possibly damaging	Het
Chl1	T	C	6: 103,667,203 (GRCm39)	F398L	probably benign	Het
Cyp2u1	A	G	3: 131,096,350 (GRCm39)	S143P	probably damaging	Het
Dlgap4	T	A	2: 156,591,056 (GRCm39)	Y57*	probably null	Het
Epha4	T	A	1: 77,351,563 (GRCm39)	R897S	probably benign	Het
Fscn2	A	T	11: 120,257,511 (GRCm39)	T291S	probably damaging	Het
Gga1	G	A	15: 78,772,670 (GRCm39)	S267N	probably damaging	Het
Gigyf2	A	G	1: 87,376,850 (GRCm39)	T1287A	probably damaging	Het
Gm10845	C	A	14: 80,100,669 (GRCm39)		noncoding transcript	Het
Itga9	A	G	9: 118,672,570 (GRCm39)	T195A	probably benign	Het
Krbox5	T	C	13: 67,991,109 (GRCm39)		probably benign	Het
Lama1	A	G	17: 68,074,028 (GRCm39)	T935A	probably benign	Het
Lrrk1	G	T	7: 66,031,286 (GRCm39)	T4K	probably benign	Het
Lrrn1	G	A	6: 107,545,327 (GRCm39)	C375Y	probably damaging	Het
Maip1	T	C	1: 57,449,144 (GRCm39)		probably null	Het
Mecom	A	T	3: 30,041,237 (GRCm39)	I119N	probably damaging	Het
Mrpl2	G	A	17: 46,958,425 (GRCm39)	R69H	probably benign	Het
Muc16	A	G	9: 18,421,773 (GRCm39)	V8246A	possibly damaging	Het
Myh3	C	T	11: 66,979,562 (GRCm39)		probably benign	Het
Myocd	A	G	11: 65,087,220 (GRCm39)	S236P	probably benign	Het
Myot	A	T	18: 44,470,125 (GRCm39)	Q34L	possibly damaging	Het
Nlrp5	A	G	7: 23,118,064 (GRCm39)	D596G	probably damaging	Het
Npas2	T	C	1: 39,372,993 (GRCm39)	S415P	possibly damaging	Het
Obox2	A	G	7: 15,130,966 (GRCm39)	E66G	probably benign	Het
Or4f59	G	T	2: 111,872,591 (GRCm39)	T262K	probably benign	Het
Pcdh9	G	A	14: 94,125,741 (GRCm39)	P143L	probably damaging	Het
Phactr1	G	T	13: 43,248,373 (GRCm39)	V356L	probably damaging	Het
Pparg	A	T	6: 115,450,242 (GRCm39)	I414L	probably benign	Het
Rapgef6	A	T	11: 54,517,420 (GRCm39)	I371L	possibly damaging	Het
Rc3h1	T	C	1: 160,782,543 (GRCm39)	V674A	probably benign	Het
Rps6ka4	T	C	19: 6,815,517 (GRCm39)	Y159C	probably damaging	Het
Sf3b6	T	C	12: 4,876,808 (GRCm39)	I67T	possibly damaging	Het
Sp140l2	A	G	1: 85,231,907 (GRCm39)		probably benign	Het
Spata17	T	C	1: 186,915,412 (GRCm39)		probably benign	Het
Ston1	A	G	17: 88,943,244 (GRCm39)	T217A	probably benign	Het
Tank	A	G	2: 61,480,442 (GRCm39)	D326G	possibly damaging	Het
Tbc1d9	T	A	8: 83,976,224 (GRCm39)	N594K	probably damaging	Het
Tfpi2	T	A	6: 3,965,507 (GRCm39)	T102S	probably benign	Het
Ulk4	T	G	9: 121,033,871 (GRCm39)	E589D	possibly damaging	Het
Usp40	A	T	1: 87,921,947 (GRCm39)	H305Q	probably damaging	Het
Vmn1r170	A	G	7: 23,305,754 (GRCm39)	K52R	probably benign	Het
Vmn1r194	A	G	13: 22,429,133 (GRCm39)	D250G	probably damaging	Het
Wdr6	A	T	9: 108,451,854 (GRCm39)	D676E	possibly damaging	Het
Xirp2	T	A	2: 67,341,179 (GRCm39)	V1140E	probably damaging	Het

Other mutations in Gm11559

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL01975:Gm11559	APN	11	99,755,682 (GRCm39)	missense	unknown
R1792:Gm11559	UTSW	11	99,755,755 (GRCm39)	missense	unknown
R4212:Gm11559	UTSW	11	99,755,726 (GRCm39)	missense	unknown
R5633:Gm11559	UTSW	11	99,755,412 (GRCm39)	nonsense	probably null
R6464:Gm11559	UTSW	11	99,755,542 (GRCm39)	missense	unknown
R7326:Gm11559	UTSW	11	99,755,707 (GRCm39)	missense	unknown
R8130:Gm11559	UTSW	11	99,755,416 (GRCm39)	missense	unknown
Z1088:Gm11559	UTSW	11	99,755,775 (GRCm39)	nonsense	probably null
Z1177:Gm11559	UTSW	11	99,755,589 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TTGCTGTCAAACCACCTGCTGC -3'
(R):5'- AGCTGAGATCACAAATGCCTGTGAAG -3'

Sequencing Primer
(F):5'- AGCCCAGGTGCTGTATCTC -3'
(R):5'- CAGTTGATGTTTAGAAGCAGCC -3'

Posted On

2014-04-24