Mutagenetix > Incidental Mutation

Incidental Mutation 'R6464:Gm11559'

517748

Institutional Source

Beutler Lab

Gene Symbol

Gm11559

Ensembl Gene

ENSMUSG00000090225

Gene Name

predicted gene 11559

Synonyms

MMRRC Submission

044597-MU

Accession Numbers

Essential gene?

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

Stock #

R6464 (G1)

Quality Score

127.008

Status

Not validated

Chromosome

Chromosomal Location

99755302-99756397 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 99755542 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 64 (C64R)

Ref Sequence

ENSEMBL: ENSMUSP00000090367 (fasta)

Gene Model

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

AlphaFold

Q9D3H7

Predicted Effect

unknown
Transcript: ENSMUST00000092694
AA Change: C64R

SMART Domains

Protein: ENSMUSP00000090367
Gene: ENSMUSG00000090225
AA Change: C64R

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.8%

Validation Efficiency

100% (48/48)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	T	A	16: 14,265,354 (GRCm39)	S769T	probably damaging	Het
Apoe	G	A	7: 19,431,461 (GRCm39)	T52M	probably damaging	Het
Arhgef10l	A	C	4: 140,314,126 (GRCm39)	M230R	probably benign	Het
Cdkl4	A	T	17: 80,832,781 (GRCm39)	I321N	probably benign	Het
Ceacam5	T	C	7: 17,481,391 (GRCm39)		probably null	Het
Cfap70	T	C	14: 20,451,107 (GRCm39)		probably null	Het
Clasp2	A	G	9: 113,602,785 (GRCm39)	Y195C	probably damaging	Het
Clip2	T	C	5: 134,520,779 (GRCm39)	I999V	probably benign	Het
Cntnap5a	A	G	1: 116,112,138 (GRCm39)	D476G	probably benign	Het
Col6a6	C	T	9: 105,666,152 (GRCm39)	M1I	probably null	Het
Cyp27a1	T	C	1: 74,775,047 (GRCm39)	V292A	possibly damaging	Het
Cyp2c29	A	G	19: 39,317,669 (GRCm39)	Y385C	probably damaging	Het
Dsg3	A	C	18: 20,666,583 (GRCm39)	R597S	probably benign	Het
Fam131c	T	C	4: 141,109,653 (GRCm39)	I95T	probably damaging	Het
Fam13b	A	T	18: 34,606,684 (GRCm39)	C302*	probably null	Het
Fkbp15	T	C	4: 62,226,315 (GRCm39)	K745E	possibly damaging	Het
Flg	T	A	3: 93,188,688 (GRCm39)		probably benign	Het
Helt	T	C	8: 46,745,571 (GRCm39)	D104G	probably damaging	Het
Helz2	T	C	2: 180,876,862 (GRCm39)	T1211A	probably benign	Het
Ifna9	T	C	4: 88,510,487 (GRCm39)	R46G	possibly damaging	Het
Kif20b	G	A	19: 34,911,841 (GRCm39)	V235I	probably benign	Het
Kif7	A	G	7: 79,363,842 (GRCm39)	V22A	possibly damaging	Het
Klra9	G	T	6: 130,155,995 (GRCm39)	Y253*	probably null	Het
Lipf	A	T	19: 33,950,944 (GRCm39)	Y305F	probably benign	Het
Lpar1	A	G	4: 58,486,875 (GRCm39)	L132P	possibly damaging	Het
Magi1	A	T	6: 93,676,770 (GRCm39)	V834E	probably damaging	Het
Meltf	T	C	16: 31,709,594 (GRCm39)	Y432H	probably benign	Het
Mroh2a	G	C	1: 88,185,524 (GRCm39)	E1510D	probably damaging	Het
Myo1f	T	C	17: 33,795,621 (GRCm39)	L59P	probably damaging	Het
Naa25	G	A	5: 121,556,024 (GRCm39)	D271N	probably damaging	Het
Or10ag55-ps1	A	T	2: 87,139,951 (GRCm39)	I273F	probably damaging	Het
Or8u3-ps	A	T	2: 85,952,752 (GRCm39)	I162F	possibly damaging	Het
Otoa	A	G	7: 120,701,828 (GRCm39)	Q169R	probably damaging	Het
Pde4dip	C	T	3: 97,617,660 (GRCm39)	D1723N	probably damaging	Het
Ptdss2	T	C	7: 140,732,124 (GRCm39)	V175A	probably damaging	Het
Rdh8	G	T	9: 20,734,696 (GRCm39)	R121L	probably damaging	Het
Rpl23	T	C	11: 97,669,111 (GRCm39)		probably null	Het
Scn5a	T	C	9: 119,363,646 (GRCm39)	D498G	probably damaging	Het
Slc39a14	G	C	14: 70,544,177 (GRCm39)	L470V	probably damaging	Het
Smok2a	C	T	17: 13,445,317 (GRCm39)	A298V	probably damaging	Het
Tesk2	A	C	4: 116,660,046 (GRCm39)	D388A	probably damaging	Het
Tnik	G	A	3: 28,666,119 (GRCm39)		probably null	Het
Ube3a	T	A	7: 58,925,931 (GRCm39)	Y236*	probably null	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,139,706 (GRCm39)		probably benign	Het
Vinac1	T	C	2: 128,881,465 (GRCm39)	T154A	possibly damaging	Het
Vmn1r74	A	T	7: 11,581,131 (GRCm39)	I144L	possibly damaging	Het
Vmn2r1	G	A	3: 64,008,766 (GRCm39)	D482N	probably benign	Het
Vwf	T	C	6: 125,616,363 (GRCm39)		probably null	Het
Wdr97	A	G	15: 76,246,977 (GRCm39)	T1413A	probably benign	Het
Zfp703	C	G	8: 27,469,355 (GRCm39)	P340A	probably damaging	Het
Znfx1	T	C	2: 166,888,842 (GRCm39)	S789G	probably benign	Het

Other mutations in Gm11559

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL01975:Gm11559	APN	11	99,755,682 (GRCm39)	missense	unknown
R1620:Gm11559	UTSW	11	99,755,882 (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
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'- ATGACCAACTCCTGCTGCTC -3'
(R):5'- GTTGATCAACAGCCACAGGG -3'

Sequencing Primer
(F):5'- GCTCCCCTTGCTGCCAG -3'
(R):5'- GTAGCAAGTCCTGGTGCAG -3'

Posted On

2018-05-21