Mutagenetix > Incidental Mutation

Incidental Mutation 'R2372:Gm11596'

248178

Institutional Source

Beutler Lab

Gene Symbol

Gm11596

Ensembl Gene

ENSMUSG00000078261

Gene Name

predicted gene 11596

Synonyms

MMRRC Submission

040352-MU

Accession Numbers

Essential gene?

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

Stock #

R2372 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

99683501-99684179 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 99684082 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 13 (E13*)

Ref Sequence

ENSEMBL: ENSMUSP00000100679 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105057] [ENSMUST00000105058]

AlphaFold

B1AQB0

Predicted Effect

probably benign
Transcript: ENSMUST00000105057

SMART Domains

Protein: ENSMUSP00000100678
Gene: ENSMUSG00000078260

Domain	Start	End	E-Value	Type
Pfam:Keratin_B2_2	1	52	1.2e-9	PFAM
Pfam:Keratin_B2	1	79	3.8e-12	PFAM
Pfam:Keratin_B2_2	39	83	1.1e-14	PFAM
Pfam:Keratin_B2_2	79	128	3.7e-10	PFAM
Pfam:Keratin_B2_2	101	148	1.7e-9	PFAM
Pfam:Keratin_B2_2	114	158	9.9e-13	PFAM
Pfam:Keratin_B2_2	139	180	4.9e-9	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000105058
AA Change: E13*

SMART Domains

Protein: ENSMUSP00000100679
Gene: ENSMUSG00000078261
AA Change: E13*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.2%

Validation Efficiency

97% (36/37)

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700008O03Rik	A	G	7: 44,009,704 (GRCm39)	L135S	probably damaging	Het
A2ml1	C	T	6: 128,557,349 (GRCm39)	A115T	probably benign	Het
Alpi	G	T	1: 87,028,316 (GRCm39)	T169N	probably damaging	Het
Ccdc15	T	C	9: 37,226,801 (GRCm39)	D378G	possibly damaging	Het
Cpb2	T	G	14: 75,505,490 (GRCm39)	V162G	probably damaging	Het
Dnmbp	T	C	19: 43,890,759 (GRCm39)	E336G	probably benign	Het
Dok6	G	C	18: 89,432,988 (GRCm39)	R274G	probably null	Het
Eef1d	G	A	15: 75,768,166 (GRCm39)	R199C	probably damaging	Het
Epha8	T	C	4: 136,660,321 (GRCm39)	Y714C	probably damaging	Het
Fyb1	T	C	15: 6,681,388 (GRCm39)		probably benign	Het
Gfpt2	A	G	11: 49,698,542 (GRCm39)	N46D	probably benign	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 118,989,784 (GRCm39)		probably benign	Het
Gsx2	T	C	5: 75,237,713 (GRCm39)	F222L	probably damaging	Het
Hpca	T	A	4: 129,012,237 (GRCm39)	K100*	probably null	Het
Iqsec1	A	G	6: 90,671,636 (GRCm39)	S89P	probably damaging	Het
Kif12	T	A	4: 63,086,796 (GRCm39)	T347S	possibly damaging	Het
Knop1	A	G	7: 118,452,440 (GRCm39)	L93S	probably damaging	Het
Mib1	A	G	18: 10,812,045 (GRCm39)	T981A	probably damaging	Het
N4bp2l1	C	T	5: 150,496,246 (GRCm39)	E123K	probably damaging	Het
Npr2	C	T	4: 43,650,432 (GRCm39)	R976W	probably damaging	Het
Rbpj	T	C	5: 53,799,537 (GRCm39)		probably benign	Het
Ro60	C	A	1: 143,646,620 (GRCm39)	E42*	probably null	Het
Ruvbl1	T	C	6: 88,462,779 (GRCm39)	V301A	possibly damaging	Het
Sgip1	T	C	4: 102,766,988 (GRCm39)		probably null	Het
Sh3bp2	T	C	5: 34,716,840 (GRCm39)	I361T	probably benign	Het
Skint1	T	A	4: 111,876,348 (GRCm39)	Y90N	probably damaging	Het
Slc25a45	G	A	19: 5,934,580 (GRCm39)	V183I	probably benign	Het
Slco4c1	T	A	1: 96,748,925 (GRCm39)	H664L	probably benign	Het
Sult2a4	T	A	7: 13,649,225 (GRCm39)	I194L	probably benign	Het
Tecta	C	A	9: 42,299,570 (GRCm39)	D173Y	probably damaging	Het
Tnrc18	T	A	5: 142,745,459 (GRCm39)		probably benign	Het
Use1	T	C	8: 71,821,823 (GRCm39)	L169P	possibly damaging	Het
Zfp335	A	G	2: 164,736,959 (GRCm39)	L918P	probably damaging	Het
Zfp451	A	T	1: 33,819,133 (GRCm39)		probably null	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
R1126:Gm11596	UTSW	11	99,683,699 (GRCm39)	nonsense	probably null
R2143:Gm11596	UTSW	11	99,683,789 (GRCm39)	nonsense	probably null
R2144:Gm11596	UTSW	11	99,683,789 (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'- GCAGCTAGAAATGCAGCAGC -3'
(R):5'- TTAGCCAGGAAATGAAACATGC -3'

Sequencing Primer
(F):5'- ATGCAGCAGCTAGGACGGC -3'
(R):5'- CCAGGAAATGAAACATGCCTAATG -3'

Posted On

2014-11-11