Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02859:Gm11564'

362100

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm11564

Ensembl Gene

ENSMUSG00000078258

Gene Name

predicted gene 11564

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

IGL02859

Quality Score

Status

Chromosome

Chromosomal Location

99705802-99706492 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 99705953 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 159 (S159N)

Ref Sequence

ENSEMBL: ENSMUSP00000100676 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105055]

AlphaFold

A2A4L9

Predicted Effect

unknown
Transcript: ENSMUST00000105055
AA Change: S159N

SMART Domains

Protein: ENSMUSP00000100676
Gene: ENSMUSG00000078258
AA Change: S159N

Domain	Start	End	E-Value	Type
Pfam:Keratin_B2_2	1	47	5e-9	PFAM
Pfam:Keratin_B2_2	14	58	1.6e-13	PFAM
Pfam:Keratin_B2_2	29	73	3.2e-14	PFAM
Pfam:Keratin_B2_2	54	97	8.4e-14	PFAM
Pfam:Keratin_B2_2	69	113	3.6e-15	PFAM
Pfam:Keratin_B2_2	94	138	1.3e-13	PFAM
Pfam:Keratin_B2_2	104	152	3.9e-13	PFAM
Pfam:Keratin_B2_2	114	163	5.4e-9	PFAM
Pfam:Keratin_B2_2	129	184	4.2e-6	PFAM
Pfam:Keratin_B2_2	165	201	2.9e-6	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	T	13: 77,415,818 (GRCm39)	Y637F	possibly damaging	Het
Abcc4	A	G	14: 118,753,912 (GRCm39)	I1025T	probably damaging	Het
Adam22	C	A	5: 8,217,375 (GRCm39)	R140L	probably damaging	Het
Ahdc1	C	A	4: 132,790,003 (GRCm39)	L415I	possibly damaging	Het
Ahdc1	T	A	4: 132,790,004 (GRCm39)	L415H	probably damaging	Het
Bivm	C	A	1: 44,176,159 (GRCm39)	S305*	probably null	Het
Clca4b	C	T	3: 144,617,800 (GRCm39)	D768N	probably benign	Het
Cobl	T	A	11: 12,319,602 (GRCm39)	N31Y	probably damaging	Het
Col4a5	G	A	X: 140,392,846 (GRCm39)	C484Y	unknown	Het
Ctnnd1	T	C	2: 84,450,253 (GRCm39)		probably benign	Het
Dnah5	A	G	15: 28,383,771 (GRCm39)	T2998A	probably benign	Het
Dnah9	T	A	11: 65,772,445 (GRCm39)		probably benign	Het
F2	T	C	2: 91,456,087 (GRCm39)	D558G	probably damaging	Het
Gle1	T	A	2: 29,839,240 (GRCm39)	W511R	probably damaging	Het
Htr6	A	G	4: 138,801,745 (GRCm39)	C110R	probably damaging	Het
Ikbke	T	A	1: 131,197,934 (GRCm39)	S391C	probably damaging	Het
Itgae	T	C	11: 73,005,693 (GRCm39)	F286L	probably damaging	Het
Kcnb2	A	T	1: 15,780,730 (GRCm39)	H534L	probably damaging	Het
Map1b	T	C	13: 99,569,544 (GRCm39)	Y1059C	unknown	Het
Mul1	A	G	4: 138,165,660 (GRCm39)	T106A	probably damaging	Het
Nf2	T	A	11: 4,741,209 (GRCm39)	E249V	probably damaging	Het
Nlrp1a	T	C	11: 70,996,912 (GRCm39)	S965G	possibly damaging	Het
Nrn1	C	A	13: 36,914,080 (GRCm39)		probably null	Het
Optc	T	C	1: 133,829,799 (GRCm39)	T204A	probably damaging	Het
Or51f1d	T	C	7: 102,701,345 (GRCm39)	V280A	probably benign	Het
Or8k37	T	C	2: 86,469,992 (GRCm39)	N20S	probably benign	Het
Pcnx2	C	T	8: 126,589,912 (GRCm39)	R787Q	probably damaging	Het
Pim1	G	A	17: 29,710,909 (GRCm39)	E171K	probably damaging	Het
Pnpt1	T	C	11: 29,088,162 (GRCm39)	V191A	probably damaging	Het
Rbbp8	G	A	18: 11,871,671 (GRCm39)	R796Q	probably benign	Het
Serpinb9e	A	G	13: 33,435,633 (GRCm39)	D22G	possibly damaging	Het
Sit1	C	T	4: 43,482,831 (GRCm39)	M109I	probably benign	Het
Slc17a8	A	G	10: 89,412,446 (GRCm39)	V329A	probably benign	Het
Smg1	T	A	7: 117,748,156 (GRCm39)		probably benign	Het
Snx7	T	A	3: 117,623,320 (GRCm39)		probably benign	Het
Stat2	A	T	10: 128,112,480 (GRCm39)	E40V	probably damaging	Het
Vegfa	C	T	17: 46,335,421 (GRCm39)	S291N	probably benign	Het
Vmn1r61	G	T	7: 5,614,288 (GRCm39)	L9I	probably benign	Het
Wbp4	T	C	14: 79,708,129 (GRCm39)	K163E	probably damaging	Het

Other mutations in Gm11564

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL02528:Gm11564	APN	11	99,706,293 (GRCm39)	nonsense	probably null
IGL02655:Gm11564	APN	11	99,705,982 (GRCm39)	nonsense	probably null
IGL03130:Gm11564	APN	11	99,705,879 (GRCm39)	missense	unknown
R1469:Gm11564	UTSW	11	99,706,058 (GRCm39)	missense	unknown
R1469:Gm11564	UTSW	11	99,706,058 (GRCm39)	missense	unknown
R1878:Gm11564	UTSW	11	99,706,266 (GRCm39)	missense	unknown
R4903:Gm11564	UTSW	11	99,705,858 (GRCm39)	missense	unknown
R5808:Gm11564	UTSW	11	99,705,867 (GRCm39)	missense	unknown
R6500:Gm11564	UTSW	11	99,706,061 (GRCm39)	missense	unknown
R7534:Gm11564	UTSW	11	99,706,347 (GRCm39)	missense	unknown
R7796:Gm11564	UTSW	11	99,706,424 (GRCm39)	missense	unknown
R9425:Gm11564	UTSW	11	99,706,065 (GRCm39)	missense	unknown
R9661:Gm11564	UTSW	11	99,706,247 (GRCm39)	missense	unknown

Posted On

2015-12-18