Mutagenetix > Incidental Mutation

Incidental Mutation 'R1126:Gm11596'

96185

Institutional Source

Beutler Lab

Gene Symbol

Gm11596

Ensembl Gene

ENSMUSG00000078261

Gene Name

predicted gene 11596

Synonyms

MMRRC Submission

039199-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R1126 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

99683501-99684179 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 99683699 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 140 (C140*)

Ref Sequence

ENSEMBL: ENSMUSP00000100679 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105058]

AlphaFold

B1AQB0

Predicted Effect

probably null
Transcript: ENSMUST00000105058
AA Change: C140*

SMART Domains

Protein: ENSMUSP00000100679
Gene: ENSMUSG00000078261
AA Change: C140*

Domain	Start	End	E-Value	Type
Pfam:Keratin_B2_2	1	48	2.7e-9	PFAM
Pfam:Keratin_B2	1	69	1.9e-10	PFAM
Pfam:Keratin_B2_2	14	58	1.1e-13	PFAM
Pfam:Keratin_B2_2	39	86	4.7e-11	PFAM
Pfam:Keratin_B2_2	84	128	8.2e-13	PFAM
Pfam:Keratin_B2_2	129	173	5.2e-12	PFAM
Pfam:Keratin_B2_2	164	205	3.7e-9	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	T	C	7: 45,759,062 (GRCm39)	E1226G	probably damaging	Het
Arhgef40	G	T	14: 52,234,583 (GRCm39)	S962I	probably damaging	Het
Atp9b	A	T	18: 80,822,169 (GRCm39)	M477K	probably damaging	Het
Enpp2	C	T	15: 54,770,222 (GRCm39)		probably null	Het
Ephb3	T	A	16: 21,041,226 (GRCm39)	M727K	possibly damaging	Het
Exo5	A	T	4: 120,779,322 (GRCm39)	I181N	probably damaging	Het
Fbn1	T	C	2: 125,163,112 (GRCm39)		probably null	Het
Gas6	T	C	8: 13,533,700 (GRCm39)	N103S	probably benign	Het
Il6st	T	C	13: 112,640,266 (GRCm39)	Y681H	probably damaging	Het
Itih4	T	C	14: 30,611,918 (GRCm39)		probably null	Het
Kdm5b	C	T	1: 134,541,729 (GRCm39)	A768V	possibly damaging	Het
Krt87	A	T	15: 101,385,363 (GRCm39)	N336K	probably damaging	Het
Mfsd6	A	G	1: 52,748,670 (GRCm39)	V65A	probably benign	Het
Nipsnap1	A	G	11: 4,834,081 (GRCm39)	N90S	probably benign	Het
Nlrp9a	C	A	7: 26,260,166 (GRCm39)	D640E	probably benign	Het
Or11h4b	C	T	14: 50,918,720 (GRCm39)	A124T	possibly damaging	Het
Or1l4	A	T	2: 37,092,113 (GRCm39)	M287L	probably benign	Het
Or2j3	A	G	17: 38,615,579 (GRCm39)	C258R	probably damaging	Het
Or5p53	A	C	7: 107,533,578 (GRCm39)	M284L	possibly damaging	Het
Parp9	G	A	16: 35,768,110 (GRCm39)	V97I	possibly damaging	Het
Pdzd2	T	C	15: 12,458,306 (GRCm39)	T12A	possibly damaging	Het
Penk	T	C	4: 4,138,119 (GRCm39)	T9A	probably benign	Het
Pilrb2	T	C	5: 137,869,222 (GRCm39)	D126G	probably damaging	Het
Pkdrej	A	T	15: 85,700,515 (GRCm39)	V1807E	probably damaging	Het
Ppp1r9a	A	G	6: 4,906,795 (GRCm39)	E450G	possibly damaging	Het
Rag1	T	C	2: 101,473,034 (GRCm39)	R703G	probably damaging	Het
Rem1	G	A	2: 152,476,455 (GRCm39)	V238M	probably damaging	Het
Rmdn3	T	C	2: 118,984,476 (GRCm39)	D92G	probably benign	Het
Rp1l1	G	A	14: 64,267,918 (GRCm39)	G1168D	probably damaging	Het
Saxo1	T	A	4: 86,397,224 (GRCm39)	T105S	probably benign	Het
Slc39a2	G	A	14: 52,131,602 (GRCm39)	G58R	probably damaging	Het
Tbx6	C	T	7: 126,383,891 (GRCm39)	T315I	probably damaging	Het
Tcf12	A	G	9: 71,907,715 (GRCm39)	M99T	probably benign	Het
Tdrd3	A	G	14: 87,718,210 (GRCm39)	D197G	probably damaging	Het
Tnc	T	C	4: 63,936,357 (GRCm39)	N193S	probably damaging	Het
Ttn	A	G	2: 76,680,347 (GRCm39)		probably benign	Het
Vmn1r225	A	G	17: 20,722,588 (GRCm39)	I10V	probably benign	Het
Zp3r	A	G	1: 130,546,079 (GRCm39)	L77P	probably damaging	Het

Other mutations in Gm11596

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL01591:Gm11596	APN	11	99,683,624 (GRCm39)	nonsense	probably null
IGL02452:Gm11596	APN	11	99,683,806 (GRCm39)	missense	unknown
BB005:Gm11596	UTSW	11	99,683,622 (GRCm39)	missense	unknown
BB015:Gm11596	UTSW	11	99,683,622 (GRCm39)	missense	unknown
R0256:Gm11596	UTSW	11	99,683,542 (GRCm39)	missense	unknown
R0299:Gm11596	UTSW	11	99,683,770 (GRCm39)	missense	unknown
R2143:Gm11596	UTSW	11	99,683,789 (GRCm39)	nonsense	probably null
R2144:Gm11596	UTSW	11	99,683,789 (GRCm39)	nonsense	probably null
R2372:Gm11596	UTSW	11	99,684,082 (GRCm39)	nonsense	probably null
R4865:Gm11596	UTSW	11	99,684,064 (GRCm39)	unclassified	probably benign
R5045:Gm11596	UTSW	11	99,683,695 (GRCm39)	missense	unknown
R5076:Gm11596	UTSW	11	99,683,698 (GRCm39)	missense	unknown
R5301:Gm11596	UTSW	11	99,683,847 (GRCm39)	missense	unknown
R5579:Gm11596	UTSW	11	99,683,717 (GRCm39)	nonsense	probably null
R6153:Gm11596	UTSW	11	99,683,524 (GRCm39)	missense	unknown
R7467:Gm11596	UTSW	11	99,683,962 (GRCm39)	missense	unknown
R7773:Gm11596	UTSW	11	99,683,667 (GRCm39)	missense	unknown
R7928:Gm11596	UTSW	11	99,683,622 (GRCm39)	missense	unknown
R8685:Gm11596	UTSW	11	99,683,816 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- ACTGTGAGTGAAAGTACTCAGCAGC -3'
(R):5'- CCCCTCAGCAGGATATAAAAGGGGAC -3'

Sequencing Primer
(F):5'- TGAAAGTACTCAGCAGCAAGAAC -3'
(R):5'- CACCTGCTGTAGGACCAC -3'

Posted On

2014-01-05