Mutagenetix > Incidental Mutation

Incidental Mutation 'R5201:Galnt15'

400819

Institutional Source

Beutler Lab

Gene Symbol

Galnt15

Ensembl Gene

ENSMUSG00000021903

Gene Name

polypeptide N-acetylgalactosaminyltransferase 15

Synonyms

Galntl2, 4631401E18Rik

MMRRC Submission

042776-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R5201 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

31750946-31784154 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 31771822 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 289 (R289Q)

Ref Sequence

ENSEMBL: ENSMUSP00000131978 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022460] [ENSMUST00000164208]

AlphaFold

Q9D2N8

Predicted Effect

probably damaging
Transcript: ENSMUST00000022460
AA Change: R413Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000022460
Gene: ENSMUSG00000021903
AA Change: R413Q

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
low complexity region	105	116	N/A	INTRINSIC
low complexity region	166	180	N/A	INTRINSIC
Pfam:Glyco_tranf_2_3	191	436	2e-8	PFAM
Pfam:Glycos_transf_2	194	362	9e-32	PFAM
RICIN	505	630	1.19e-6	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000164208
AA Change: R289Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000131978
Gene: ENSMUSG00000021903
AA Change: R289Q

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
low complexity region	105	116	N/A	INTRINSIC
low complexity region	166	180	N/A	INTRINSIC
low complexity region	228	248	N/A	INTRINSIC
RICIN	381	506	1.19e-6	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	C	A	15: 81,946,745 (GRCm39)	T214N	probably benign	Het
Actn4	A	T	7: 28,615,680 (GRCm39)		probably null	Het
Arap2	T	C	5: 62,840,832 (GRCm39)	E678G	probably damaging	Het
Atl2	T	C	17: 80,172,580 (GRCm39)	N130S	probably benign	Het
Cby2	A	G	14: 75,821,449 (GRCm39)	V101A	probably damaging	Het
Cyp2b10	A	G	7: 25,616,419 (GRCm39)	D342G	probably damaging	Het
Dnah6	A	G	6: 73,172,715 (GRCm39)	Y248H	possibly damaging	Het
Drd5	A	T	5: 38,477,366 (GRCm39)	M120L	probably damaging	Het
Duox1	A	G	2: 122,158,403 (GRCm39)	R629G	probably benign	Het
Dyrk1b	A	G	7: 27,884,521 (GRCm39)	Y279C	probably damaging	Het
Efemp1	A	T	11: 28,864,590 (GRCm39)	I215L	probably benign	Het
Enpp6	C	A	8: 47,518,486 (GRCm39)	Q205K	probably damaging	Het
Fam170a	A	T	18: 50,415,193 (GRCm39)	T280S	probably benign	Het
Fam222a	G	A	5: 114,749,127 (GRCm39)	A108T	possibly damaging	Het
Fgd3	G	T	13: 49,449,854 (GRCm39)	P132T	probably benign	Het
Fzr1	A	T	10: 81,203,362 (GRCm39)	L399H	probably damaging	Het
Hira	T	C	16: 18,770,865 (GRCm39)	V834A	probably damaging	Het
Ilf3	T	C	9: 21,300,679 (GRCm39)	L93P	probably damaging	Het
Itgae	G	A	11: 73,001,382 (GRCm39)	R71Q	probably benign	Het
Itprid1	T	C	6: 55,944,991 (GRCm39)	S571P	probably benign	Het
Kif14	T	A	1: 136,431,145 (GRCm39)	S1181T	probably benign	Het
Lrig3	C	A	10: 125,849,020 (GRCm39)	P946Q	possibly damaging	Het
Macf1	A	T	4: 123,369,738 (GRCm39)	C1674*	probably null	Het
Malt1	A	G	18: 65,609,126 (GRCm39)	K710R	probably benign	Het
Man1a2	A	T	3: 100,524,328 (GRCm39)	N373K	probably benign	Het
Mpped2	A	G	2: 106,529,847 (GRCm39)	N32S	possibly damaging	Het
Mrtfb	A	C	16: 13,219,456 (GRCm39)	T701P	probably benign	Het
Myh10	A	T	11: 68,674,021 (GRCm39)	T652S	probably damaging	Het
Nfia	A	G	4: 97,999,462 (GRCm39)	Y485C	probably damaging	Het
Olfml2b	A	T	1: 170,496,433 (GRCm39)	T355S	probably benign	Het
Or10q3	A	T	19: 11,847,995 (GRCm39)	I195K	probably benign	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pcdh1	A	T	18: 38,331,971 (GRCm39)	V344D	probably damaging	Het
Plekhn1	C	A	4: 156,314,984 (GRCm39)	V558L	probably benign	Het
Prr14l	A	G	5: 32,987,591 (GRCm39)	S635P	possibly damaging	Het
Prss46	T	A	9: 110,680,543 (GRCm39)	C229*	probably null	Het
Rad50	A	G	11: 53,589,647 (GRCm39)		probably null	Het
Slc27a3	A	T	3: 90,296,526 (GRCm39)	L191Q	probably benign	Het
Surf4	A	G	2: 26,823,778 (GRCm39)		probably benign	Het
Taf3	A	G	2: 9,956,995 (GRCm39)	S391P	probably damaging	Het
Tep1	A	C	14: 51,105,567 (GRCm39)	L151R	probably benign	Het
Tmprss11d	A	C	5: 86,457,214 (GRCm39)	N148K	possibly damaging	Het
Tpd52l2	G	A	2: 181,156,879 (GRCm39)	V172I	probably benign	Het
Vmn2r77	A	G	7: 86,460,846 (GRCm39)	D724G	probably damaging	Het
Wdr75	T	A	1: 45,862,519 (GRCm39)	D779E	probably benign	Het
Zfp943	A	T	17: 22,211,794 (GRCm39)	K293N	probably damaging	Het

Other mutations in Galnt15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00503:Galnt15	APN	14	31,774,313 (GRCm39)	missense	possibly damaging	0.47
IGL02491:Galnt15	APN	14	31,778,273 (GRCm39)	missense	probably damaging	1.00
R0323:Galnt15	UTSW	14	31,770,042 (GRCm39)	missense	probably damaging	0.99
R1900:Galnt15	UTSW	14	31,771,822 (GRCm39)	missense	probably damaging	1.00
R4369:Galnt15	UTSW	14	31,751,496 (GRCm39)	missense	possibly damaging	0.90
R4423:Galnt15	UTSW	14	31,780,226 (GRCm39)	missense	possibly damaging	0.95
R4979:Galnt15	UTSW	14	31,765,247 (GRCm39)	missense	probably damaging	0.99
R5093:Galnt15	UTSW	14	31,771,786 (GRCm39)	missense	probably damaging	1.00
R5254:Galnt15	UTSW	14	31,780,244 (GRCm39)	nonsense	probably null
R5434:Galnt15	UTSW	14	31,771,800 (GRCm39)	missense	possibly damaging	0.88
R5451:Galnt15	UTSW	14	31,751,868 (GRCm39)	missense	probably benign	0.25
R5495:Galnt15	UTSW	14	31,751,774 (GRCm39)	missense	probably damaging	0.97
R5874:Galnt15	UTSW	14	31,774,324 (GRCm39)	missense	probably damaging	1.00
R6374:Galnt15	UTSW	14	31,780,116 (GRCm39)	missense	probably damaging	0.96
R6444:Galnt15	UTSW	14	31,762,368 (GRCm39)	missense	probably damaging	1.00
R7798:Galnt15	UTSW	14	31,751,862 (GRCm39)	missense	possibly damaging	0.52
R9007:Galnt15	UTSW	14	31,771,935 (GRCm39)	missense	probably damaging	1.00
R9031:Galnt15	UTSW	14	31,770,027 (GRCm39)	missense	probably damaging	0.99
R9092:Galnt15	UTSW	14	31,780,196 (GRCm39)	missense	probably benign	0.43
R9161:Galnt15	UTSW	14	31,780,116 (GRCm39)	missense	probably damaging	0.96
R9629:Galnt15	UTSW	14	31,774,301 (GRCm39)	missense	probably damaging	1.00
Z1177:Galnt15	UTSW	14	31,774,322 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCCCAAACTCTCTGATCTGG -3'
(R):5'- GAATTCCAGGCAGAGGTCAACTG -3'

Sequencing Primer
(F):5'- ACTCTCTGATCTGGAAAGTGCAC -3'
(R):5'- ACCCTTATGTTGGCCAAAGG -3'

Posted On

2016-07-06