Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01748:Galnt11'

153071

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Galnt11

Ensembl Gene

ENSMUSG00000038072

Gene Name

polypeptide N-acetylgalactosaminyltransferase 11

Synonyms

A430075I06Rik, E430002F06Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.234) question?

Stock #

IGL01748

Quality Score

Status

Chromosome

Chromosomal Location

25427732-25470916 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 25452513 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 8 (Y8*)

Ref Sequence

ENSEMBL: ENSMUSP00000110602 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045737] [ENSMUST00000114950] [ENSMUST00000114952] [ENSMUST00000144971]

AlphaFold

Q921L8

Predicted Effect

probably null
Transcript: ENSMUST00000045737
AA Change: Y8*

SMART Domains

Protein: ENSMUSP00000036240
Gene: ENSMUSG00000038072
AA Change: Y8*

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
Pfam:Glyco_tranf_2_3	151	386	5.3e-9	PFAM
Pfam:Glycos_transf_2	154	337	3.7e-33	PFAM
Pfam:Glyco_transf_7C	315	383	2.1e-9	PFAM
RICIN	476	607	7.09e-23	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000114950
AA Change: Y8*

SMART Domains

Protein: ENSMUSP00000110600
Gene: ENSMUSG00000038072
AA Change: Y8*

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
Pfam:Glyco_tranf_2_3	151	385	1.7e-10	PFAM
Pfam:Glycos_transf_2	154	337	4.8e-29	PFAM
Pfam:Glyco_transf_7C	314	383	3.5e-9	PFAM
RICIN	476	607	7.09e-23	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000114952
AA Change: Y8*

SMART Domains

Protein: ENSMUSP00000110602
Gene: ENSMUSG00000038072
AA Change: Y8*

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
Pfam:Glyco_tranf_2_3	151	385	1.7e-10	PFAM
Pfam:Glycos_transf_2	154	337	4.8e-29	PFAM
Pfam:Glyco_transf_7C	314	383	3.5e-9	PFAM
RICIN	476	607	7.09e-23	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000144971

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb1	T	C	15: 74,420,206 (GRCm39)		probably benign	Het
Asb1	G	A	1: 91,480,008 (GRCm39)	V236I	probably damaging	Het
Bod1l	G	A	5: 41,974,304 (GRCm39)	R2337C	probably benign	Het
Fermt3	A	T	19: 6,980,834 (GRCm39)		probably null	Het
Foxred2	T	C	15: 77,836,546 (GRCm39)	D323G	probably damaging	Het
Fry	A	G	5: 150,269,116 (GRCm39)		probably benign	Het
Gm42688	T	A	6: 83,080,001 (GRCm39)	S275T	possibly damaging	Het
Grip2	C	T	6: 91,741,724 (GRCm39)	G934R	probably damaging	Het
Igkv1-122	G	T	6: 67,994,456 (GRCm39)	V115F	possibly damaging	Het
Iglon5	C	T	7: 43,125,953 (GRCm39)		probably benign	Het
Nbl1	G	T	4: 138,810,921 (GRCm39)		probably benign	Het
Nup107	A	G	10: 117,593,179 (GRCm39)	V833A	probably benign	Het
Or4k41	T	C	2: 111,279,875 (GRCm39)	L130P	probably damaging	Het
Psg18	T	C	7: 18,087,476 (GRCm39)	N61D	probably benign	Het
Rfng	A	G	11: 120,674,569 (GRCm39)	M104T	probably benign	Het
Scn10a	A	G	9: 119,456,150 (GRCm39)	F1224S	probably damaging	Het
Strn4	C	T	7: 16,572,227 (GRCm39)	P647S	probably damaging	Het
Tbc1d2	A	G	4: 46,616,306 (GRCm39)	V474A	probably damaging	Het
Trav13n-4	A	T	14: 53,601,470 (GRCm39)	T80S	probably benign	Het
Trrap	A	G	5: 144,770,150 (GRCm39)	E2757G	probably damaging	Het
Vmn1r43	G	T	6: 89,847,294 (GRCm39)	T64N	probably damaging	Het
Vmn2r108	A	T	17: 20,683,476 (GRCm39)	I576N	probably benign	Het
Vmn2r65	A	T	7: 84,589,507 (GRCm39)	I803N	probably damaging	Het
Zfp341	T	C	2: 154,470,847 (GRCm39)	V288A	probably damaging	Het

Other mutations in Galnt11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00326:Galnt11	APN	5	25,453,829 (GRCm39)	splice site	probably benign
IGL01553:Galnt11	APN	5	25,452,718 (GRCm39)	missense	probably benign	0.13
R0021:Galnt11	UTSW	5	25,453,855 (GRCm39)	missense	probably damaging	1.00
R0021:Galnt11	UTSW	5	25,453,855 (GRCm39)	missense	probably damaging	1.00
R0666:Galnt11	UTSW	5	25,457,145 (GRCm39)	missense	possibly damaging	0.89
R0784:Galnt11	UTSW	5	25,463,907 (GRCm39)	missense	probably damaging	1.00
R1136:Galnt11	UTSW	5	25,463,943 (GRCm39)	missense	probably damaging	0.98
R1168:Galnt11	UTSW	5	25,455,244 (GRCm39)	missense	probably damaging	1.00
R1617:Galnt11	UTSW	5	25,463,891 (GRCm39)	missense	probably damaging	1.00
R2033:Galnt11	UTSW	5	25,452,536 (GRCm39)	missense	probably damaging	1.00
R2507:Galnt11	UTSW	5	25,452,610 (GRCm39)	missense	probably damaging	1.00
R2508:Galnt11	UTSW	5	25,452,610 (GRCm39)	missense	probably damaging	1.00
R4237:Galnt11	UTSW	5	25,470,258 (GRCm39)	missense	probably benign	0.02
R4944:Galnt11	UTSW	5	25,470,336 (GRCm39)	missense	probably damaging	1.00
R5653:Galnt11	UTSW	5	25,453,856 (GRCm39)	missense	probably damaging	1.00
R5917:Galnt11	UTSW	5	25,452,670 (GRCm39)	splice site	probably null
R6489:Galnt11	UTSW	5	25,469,964 (GRCm39)	missense	probably damaging	0.99
R6696:Galnt11	UTSW	5	25,460,112 (GRCm39)	missense	probably benign
R6709:Galnt11	UTSW	5	25,453,851 (GRCm39)	missense	probably damaging	1.00
R6881:Galnt11	UTSW	5	25,455,097 (GRCm39)	missense	possibly damaging	0.69
R7034:Galnt11	UTSW	5	25,463,811 (GRCm39)	missense	probably damaging	0.99
R7036:Galnt11	UTSW	5	25,463,811 (GRCm39)	missense	probably damaging	0.99
R8734:Galnt11	UTSW	5	25,455,222 (GRCm39)	missense	possibly damaging	0.95
R8992:Galnt11	UTSW	5	25,469,983 (GRCm39)	missense	possibly damaging	0.81
X0038:Galnt11	UTSW	5	25,462,492 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-02-04