Mutagenetix > Incidental Mutation

Incidental Mutation 'R7928:Gm11596'

643433

Institutional Source

Beutler Lab

Gene Symbol

Gm11596

Ensembl Gene

ENSMUSG00000078261

Gene Name

predicted gene 11596

Synonyms

MMRRC Submission

045975-MU

Accession Numbers

Essential gene?

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

Stock #

R7928 (G1)

Quality Score

999

Status

Validated

Chromosome

Chromosomal Location

99683501-99684179 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 99683622 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 166 (V166A)

Ref Sequence

ENSEMBL: ENSMUSP00000100679 (fasta)

Gene Model

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

AlphaFold

B1AQB0

Predicted Effect

unknown
Transcript: ENSMUST00000105058
AA Change: V166A

SMART Domains

Protein: ENSMUSP00000100679
Gene: ENSMUSG00000078261
AA Change: V166A

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: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.7%

Validation Efficiency

97% (30/31)

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb1	T	A	15: 74,410,170 (GRCm39)	W270R	probably damaging	Het
Adprhl1	C	T	8: 13,298,682 (GRCm39)	V83I	probably damaging	Het
App	A	T	16: 84,775,134 (GRCm39)	V501D	probably benign	Het
Cnot6l	A	G	5: 96,278,927 (GRCm39)	V97A	possibly damaging	Het
Cntrob	A	G	11: 69,191,121 (GRCm39)	L831P	probably damaging	Het
Dmbt1	T	C	7: 130,639,620 (GRCm39)	S53P	probably benign	Het
Dnah2	T	C	11: 69,321,661 (GRCm39)	D3833G	probably damaging	Het
Dock4	T	C	12: 40,838,302 (GRCm39)	L1081P	probably damaging	Het
Dock7	T	C	4: 98,889,335 (GRCm39)	N185D		Het
Dsn1	T	C	2: 156,847,932 (GRCm39)		probably benign	Het
Evpl	T	C	11: 116,113,359 (GRCm39)	T1444A	possibly damaging	Het
Fanci	T	C	7: 79,094,459 (GRCm39)	L1130P	probably benign	Het
Fancm	A	G	12: 65,152,898 (GRCm39)	D1118G	unknown	Het
G530012D18Rik	C	G	1: 85,504,935 (GRCm39)	D113E	unknown	Het
Gm2696	A	T	10: 77,650,723 (GRCm39)	T70S	unknown	Het
Gm5773	A	G	3: 93,680,997 (GRCm39)	E223G	probably damaging	Het
Madd	T	A	2: 91,007,233 (GRCm39)	D293V	probably damaging	Het
Odam	A	G	5: 88,035,269 (GRCm39)	T78A	possibly damaging	Het
Or52ae9	T	A	7: 103,390,397 (GRCm39)	I17F	probably damaging	Het
Rassf3	A	G	10: 121,252,984 (GRCm39)		probably null	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Rhbdf1	T	C	11: 32,159,898 (GRCm39)	Y826C	possibly damaging	Het
Rnf13	C	A	3: 57,671,729 (GRCm39)	Q14K	probably benign	Het
Sec13	A	G	6: 113,706,601 (GRCm39)	S271P	probably damaging	Het
Sema6c	T	C	3: 95,079,620 (GRCm39)	L638P	probably damaging	Het
Sgsh	T	G	11: 119,238,561 (GRCm39)	H301P	probably benign	Het
Shh	T	C	5: 28,666,404 (GRCm39)	M161V	possibly damaging	Het
Son	CATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAG	CATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAG	16: 91,453,729 (GRCm39)		probably benign	Het
Stil	C	T	4: 114,887,198 (GRCm39)	H764Y	probably damaging	Het
Vmn1r203	C	T	13: 22,708,705 (GRCm39)	T162I	probably benign	Het
Zfp950	G	T	19: 61,107,938 (GRCm39)	P382T	probably damaging	Het
Zzef1	T	C	11: 72,712,722 (GRCm39)	M214T	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
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
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
R8685:Gm11596	UTSW	11	99,683,816 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CTTGGGATTCAACTCACTTATGG -3'
(R):5'- CGTTTCTAACTGCTGCAGGC -3'

Sequencing Primer
(F):5'- CTTATGGTCTACATCACAAATGGGGG -3'
(R):5'- AGGCCTTCTTGCTGCAG -3'

Posted On

2020-08-07