Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01553:Galnt11'

90635

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: 0.170) question?

Stock #

IGL01553

Quality Score

Status

Chromosome

Chromosomal Location

25427732-25470916 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 25452718 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 77 (D77N)

Ref Sequence

ENSEMBL: ENSMUSP00000110602 (fasta)

Gene Model

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

AlphaFold

Q921L8

Predicted Effect

probably benign
Transcript: ENSMUST00000045737
AA Change: D77N

PolyPhen 2 Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000036240
Gene: ENSMUSG00000038072
AA Change: D77N

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 benign
Transcript: ENSMUST00000114950
AA Change: D77N

PolyPhen 2 Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000110600
Gene: ENSMUSG00000038072
AA Change: D77N

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: ENSMUST00000114952
AA Change: D77N

PolyPhen 2 Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000110602
Gene: ENSMUSG00000038072
AA Change: D77N

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c13	T	A	13: 4,244,774 (GRCm39)	H117Q	probably damaging	Het
Arhgap44	T	C	11: 64,943,944 (GRCm39)	N188S	probably damaging	Het
Bach1	T	A	16: 87,519,393 (GRCm39)	I561N	probably damaging	Het
Bsph2	G	T	7: 13,290,645 (GRCm39)	T78K	probably damaging	Het
Ccdc178	A	G	18: 22,048,063 (GRCm39)	Y776H	probably damaging	Het
Ccdc7a	T	C	8: 129,753,072 (GRCm39)		probably benign	Het
Cenpp	C	T	13: 49,618,252 (GRCm39)	V218M	probably damaging	Het
Dnmt3l	A	G	10: 77,899,082 (GRCm39)	S94G	probably benign	Het
Dock7	A	T	4: 98,833,803 (GRCm39)	Y1839*	probably null	Het
Gabra6	T	A	11: 42,206,023 (GRCm39)	T278S	probably damaging	Het
Gm17175	T	C	14: 51,808,279 (GRCm39)	D171G	probably benign	Het
Iqch	T	C	9: 63,408,199 (GRCm39)	N655S	probably benign	Het
Kdm1b	T	A	13: 47,234,024 (GRCm39)	I786N	probably damaging	Het
Macf1	G	A	4: 123,386,956 (GRCm39)	Q976*	probably null	Het
Mbtd1	T	A	11: 93,814,040 (GRCm39)	C228S	probably benign	Het
Myo10	T	C	15: 25,776,415 (GRCm39)	L46P	probably damaging	Het
Niban3	G	T	8: 72,055,546 (GRCm39)	A319S	possibly damaging	Het
Nup133	A	G	8: 124,642,063 (GRCm39)	V800A	possibly damaging	Het
Or5h23	G	T	16: 58,906,685 (GRCm39)	H54N	probably benign	Het
Prkca	C	T	11: 107,948,660 (GRCm39)	G110R	probably benign	Het
Samd9l	A	T	6: 3,375,566 (GRCm39)	M565K	probably damaging	Het
Scgn	T	C	13: 24,143,662 (GRCm39)	Q77R	probably benign	Het
Serpinb6b	T	C	13: 33,158,931 (GRCm39)	L44P	probably damaging	Het
Tfrc	T	C	16: 32,447,403 (GRCm39)	V673A	probably benign	Het
Tsfm	G	A	10: 126,864,259 (GRCm39)	T152M	probably benign	Het
Wdfy3	A	T	5: 102,047,897 (GRCm39)	C1803S	probably benign	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
IGL01748:Galnt11	APN	5	25,452,513 (GRCm39)	nonsense	probably null
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

2013-12-09