Mutagenetix > Incidental Mutation

Incidental Mutation 'R5303:Gm11595'

404366

Institutional Source

Beutler Lab

Gene Symbol

Gm11595

Ensembl Gene

ENSMUSG00000078668

Gene Name

predicted gene 11595

Synonyms

MMRRC Submission

042886-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R5303 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

99771714-99772913 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 99772555 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 100 (R100C)

Ref Sequence

ENSEMBL: ENSMUSP00000103064 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107440]

AlphaFold

B1AQA7

Predicted Effect

unknown
Transcript: ENSMUST00000107440
AA Change: R100C

SMART Domains

Protein: ENSMUSP00000103064
Gene: ENSMUSG00000078668
AA Change: R100C

Domain	Start	End	E-Value	Type
Pfam:Keratin_B2_2	1	47	7.5e-9	PFAM
Pfam:Keratin_B2_2	14	58	2.8e-13	PFAM
Pfam:Keratin_B2_2	29	73	1.2e-13	PFAM
Pfam:Keratin_B2_2	72	112	2.3e-12	PFAM
Pfam:Keratin_B2_2	107	152	4.6e-14	PFAM
Pfam:Keratin_B2_2	118	162	1.1e-13	PFAM
Pfam:Keratin_B2_2	143	187	3.5e-10	PFAM
Pfam:Keratin_B2_2	168	212	5.6e-13	PFAM
Pfam:Keratin_B2_2	178	222	2.4e-12	PFAM
Pfam:Keratin_B2_2	208	257	1.6e-11	PFAM
Pfam:Keratin_B2_2	223	267	4e-14	PFAM
Pfam:Keratin_B2_2	248	289	9e-9	PFAM

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.6%
20x: 95.9%

Validation Efficiency

98% (63/64)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	C	G	3: 124,406,350 (GRCm38)	G531A	probably damaging	Het
4921504E06Rik	A	G	2: 19,516,299 (GRCm38)	Y256H	possibly damaging	Het
Abcc12	C	A	8: 86,509,786 (GRCm38)	R1133L	probably benign	Het
Acss3	T	A	10: 107,084,851 (GRCm38)	T133S	possibly damaging	Het
Adra1d	G	A	2: 131,546,249 (GRCm38)	P462L	possibly damaging	Het
Ank2	A	T	3: 126,945,804 (GRCm38)		probably benign	Het
Arid2	G	A	15: 96,392,468 (GRCm38)	R1748Q	probably damaging	Het
B3glct	C	T	5: 149,754,023 (GRCm38)		probably benign	Het
C3ar1	A	T	6: 122,849,835 (GRCm38)	S474R	probably damaging	Het
Cd1d1	A	G	3: 86,998,120 (GRCm38)	F189L	probably benign	Het
Cd46	T	C	1: 195,062,399 (GRCm38)	I344V	probably benign	Het
Chrna1	T	C	2: 73,566,274 (GRCm38)	M426V	probably benign	Het
Cinp	G	A	12: 110,876,861 (GRCm38)	T139M	probably damaging	Het
Cplane1	G	A	15: 8,260,690 (GRCm38)		probably null	Het
Disp2	T	C	2: 118,810,848 (GRCm38)		probably benign	Het
Eapp	G	A	12: 54,692,918 (GRCm38)	P38L	probably damaging	Het
Eif4g3	T	C	4: 138,126,562 (GRCm38)	S480P	probably benign	Het
Epb41l3	G	C	17: 69,257,449 (GRCm38)	E390Q	probably damaging	Het
Fermt1	T	C	2: 132,911,339 (GRCm38)		probably null	Het
Foxf2	T	A	13: 31,626,480 (GRCm38)	F134Y	possibly damaging	Het
Foxp2	T	A	6: 15,324,637 (GRCm38)	C95S	probably benign	Het
Gria1	A	G	11: 57,243,025 (GRCm38)	T577A	probably benign	Het
Hal	A	G	10: 93,516,365 (GRCm38)		probably benign	Het
Hdac7	C	A	15: 97,798,018 (GRCm38)	E670D	probably damaging	Het
Islr2	A	T	9: 58,208,275 (GRCm38)		probably benign	Het
Itpr3	T	C	17: 27,116,689 (GRCm38)	Y2258H	probably benign	Het
Mical3	G	T	6: 120,959,980 (GRCm38)	T1195K	probably benign	Het
Myh1	T	C	11: 67,202,017 (GRCm38)	S46P	probably benign	Het
Mylk3	T	A	8: 85,350,476 (GRCm38)	I444F	probably damaging	Het
Nlrc3	A	T	16: 3,963,614 (GRCm38)	C644S	probably benign	Het
Notch1	C	T	2: 26,478,619 (GRCm38)	V553M	probably benign	Het
Or10g9	A	G	9: 40,000,588 (GRCm38)	I213T	probably damaging	Het
Or4a72	T	A	2: 89,575,001 (GRCm38)	I242F	possibly damaging	Het
Or51a43	T	C	7: 104,069,032 (GRCm38)		probably benign	Het
Or5b102	T	A	19: 13,063,775 (GRCm38)	Y121*	probably null	Het
Pih1d3	G	A	1: 31,223,456 (GRCm38)	R173H	probably damaging	Het
Postn	A	G	3: 54,377,597 (GRCm38)	T669A	probably damaging	Het
Ppp5c	G	T	7: 17,005,284 (GRCm38)	Q472K	probably benign	Het
Qsox1	T	C	1: 155,779,293 (GRCm38)	H708R	probably benign	Het
Rhbdl2	A	G	4: 123,810,221 (GRCm38)		probably benign	Het
Ryr1	C	T	7: 29,068,482 (GRCm38)	E2884K	probably damaging	Het
Saysd1	T	C	14: 20,082,958 (GRCm38)	T44A	probably benign	Het
Septin14	T	A	5: 129,689,648 (GRCm38)	M290L	possibly damaging	Het
Sh3bp5	C	A	14: 31,377,495 (GRCm38)	R265L	probably benign	Het
Slc38a8	C	A	8: 119,486,041 (GRCm38)	V294L	possibly damaging	Het
Spdye4b	C	T	5: 143,202,403 (GRCm38)	T217I	probably benign	Het
Sugp2	T	A	8: 70,242,177 (GRCm38)		probably benign	Het
Syne1	T	C	10: 5,420,464 (GRCm38)	T232A	probably benign	Het
Tbc1d5	A	T	17: 50,736,200 (GRCm38)	D753E	probably benign	Het
Tmed1	G	T	9: 21,510,047 (GRCm38)	Q44K	possibly damaging	Het
Ttc6	T	A	12: 57,575,820 (GRCm38)	S2T	possibly damaging	Het
Ube4b	T	C	4: 149,383,803 (GRCm38)	D172G	probably damaging	Het
Vmn1r235	C	A	17: 21,262,006 (GRCm38)	Q198K	probably benign	Het
Wdfy3	T	C	5: 101,952,983 (GRCm38)	H256R	probably damaging	Het
Zfat	A	T	15: 68,110,486 (GRCm38)	H1059Q	probably damaging	Het
Zfp758	A	G	17: 22,374,861 (GRCm38)	I77M	probably benign	Het
Zfp850	C	T	7: 28,008,413 (GRCm38)	A2T	probably damaging	Het
Zfyve1	A	T	12: 83,575,056 (GRCm38)	N188K	probably damaging	Het
Zyg11a	C	T	4: 108,184,432 (GRCm38)		probably null	Het

Other mutations in Gm11595

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL00579:Gm11595	APN	11	99,772,042 (GRCm38)	missense	unknown
IGL00987:Gm11595	APN	11	99,772,539 (GRCm38)	missense	unknown
IGL01662:Gm11595	APN	11	99,772,672 (GRCm38)	missense	unknown
IGL01994:Gm11595	APN	11	99,772,201 (GRCm38)	missense	unknown
R0548:Gm11595	UTSW	11	99,772,141 (GRCm38)	missense	unknown
R1923:Gm11595	UTSW	11	99,772,539 (GRCm38)	missense	unknown
R2127:Gm11595	UTSW	11	99,772,501 (GRCm38)	missense	unknown
R2128:Gm11595	UTSW	11	99,772,501 (GRCm38)	missense	unknown
R3807:Gm11595	UTSW	11	99,772,554 (GRCm38)	missense	unknown
R4007:Gm11595	UTSW	11	99,772,035 (GRCm38)	missense	unknown
R5281:Gm11595	UTSW	11	99,772,555 (GRCm38)	missense	unknown
R5283:Gm11595	UTSW	11	99,772,555 (GRCm38)	missense	unknown
R5305:Gm11595	UTSW	11	99,772,555 (GRCm38)	missense	unknown
R5306:Gm11595	UTSW	11	99,772,555 (GRCm38)	missense	unknown
R5307:Gm11595	UTSW	11	99,772,555 (GRCm38)	missense	unknown
R5308:Gm11595	UTSW	11	99,772,555 (GRCm38)	missense	unknown
R5561:Gm11595	UTSW	11	99,772,555 (GRCm38)	missense	unknown
R5637:Gm11595	UTSW	11	99,772,555 (GRCm38)	missense	unknown
R5639:Gm11595	UTSW	11	99,772,555 (GRCm38)	missense	unknown
R5718:Gm11595	UTSW	11	99,772,555 (GRCm38)	missense	unknown
R5719:Gm11595	UTSW	11	99,772,555 (GRCm38)	missense	unknown
R5720:Gm11595	UTSW	11	99,772,555 (GRCm38)	missense	unknown
R5721:Gm11595	UTSW	11	99,772,555 (GRCm38)	missense	unknown
R5769:Gm11595	UTSW	11	99,772,555 (GRCm38)	missense	unknown
R5770:Gm11595	UTSW	11	99,772,555 (GRCm38)	missense	unknown
R5771:Gm11595	UTSW	11	99,772,555 (GRCm38)	missense	unknown
R5791:Gm11595	UTSW	11	99,772,555 (GRCm38)	missense	unknown
R5841:Gm11595	UTSW	11	99,772,317 (GRCm38)	missense	unknown
R6054:Gm11595	UTSW	11	99,772,648 (GRCm38)	missense	unknown
R6277:Gm11595	UTSW	11	99,772,684 (GRCm38)	missense	unknown
R6281:Gm11595	UTSW	11	99,772,555 (GRCm38)	missense	unknown
R6282:Gm11595	UTSW	11	99,772,555 (GRCm38)	missense	unknown
R6310:Gm11595	UTSW	11	99,772,555 (GRCm38)	missense	unknown
R6321:Gm11595	UTSW	11	99,772,555 (GRCm38)	missense	unknown
R6322:Gm11595	UTSW	11	99,772,555 (GRCm38)	missense	unknown
R6327:Gm11595	UTSW	11	99,772,555 (GRCm38)	missense	unknown
R6337:Gm11595	UTSW	11	99,772,555 (GRCm38)	missense	unknown
R6368:Gm11595	UTSW	11	99,772,555 (GRCm38)	missense	unknown
R6369:Gm11595	UTSW	11	99,772,555 (GRCm38)	missense	unknown
R6431:Gm11595	UTSW	11	99,772,774 (GRCm38)	missense	unknown
R6483:Gm11595	UTSW	11	99,772,555 (GRCm38)	missense	unknown
R6485:Gm11595	UTSW	11	99,772,555 (GRCm38)	missense	unknown
R6493:Gm11595	UTSW	11	99,772,555 (GRCm38)	missense	unknown
R6758:Gm11595	UTSW	11	99,772,541 (GRCm38)	nonsense	probably null
R6758:Gm11595	UTSW	11	99,772,540 (GRCm38)	missense	unknown
R7037:Gm11595	UTSW	11	99,772,648 (GRCm38)	missense	unknown
R8053:Gm11595	UTSW	11	99,772,128 (GRCm38)	missense	unknown
R8911:Gm11595	UTSW	11	99,772,738 (GRCm38)	missense	unknown
R9632:Gm11595	UTSW	11	99,772,271 (GRCm38)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TAGAACTACCACAGCAGGGG -3'
(R):5'- AACACCATGGTCAGTTCCTG -3'

Sequencing Primer
(F):5'- CGACAGCAGCTGGAGATG -3'
(R):5'- TGCCAGACCACCTGCTGTAG -3'

Posted On

2016-07-22