Mutagenetix > Incidental Mutation

Incidental Mutation 'R1560:Galnt16'

170568

Institutional Source

Beutler Lab

Gene Symbol

Galnt16

Ensembl Gene

ENSMUSG00000021130

Gene Name

polypeptide N-acetylgalactosaminyltransferase 16

Synonyms

Galntl1, 5730405L21Rik

MMRRC Submission

039599-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.112) question?

Stock #

R1560 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

80565245-80650672 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 80648566 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 546 (D546V)

Ref Sequence

ENSEMBL: ENSMUSP00000151829 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021558] [ENSMUST00000218943] [ENSMUST00000219993]

AlphaFold

Q9JJ61

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021558
AA Change: D546V

PolyPhen 2 Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000021558
Gene: ENSMUSG00000021130
AA Change: D546V

Domain	Start	End	E-Value	Type
transmembrane domain	7	25	N/A	INTRINSIC
low complexity region	29	46	N/A	INTRINSIC
Pfam:Glycos_transf_2	126	308	1.2e-24	PFAM
Pfam:Glyco_tranf_2_2	126	356	1.6e-9	PFAM
Pfam:Glyco_transf_7C	277	352	2.2e-10	PFAM
Blast:RICIN	362	395	1e-10	BLAST
RICIN	432	555	1.41e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000217926

Predicted Effect

possibly damaging
Transcript: ENSMUST00000218943
AA Change: D546V

PolyPhen 2 Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

unknown
Transcript: ENSMUST00000219267
AA Change: D46V

Predicted Effect

possibly damaging
Transcript: ENSMUST00000219993
AA Change: D546V

PolyPhen 2 Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220065

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	A	G	7: 41,275,466 (GRCm39)	T390A	probably benign	Het
Adamts8	T	A	9: 30,867,963 (GRCm39)	C596S	probably damaging	Het
Avl9	T	A	6: 56,702,113 (GRCm39)	Y89*	probably null	Het
Cacna1e	G	A	1: 154,296,850 (GRCm39)	R18*	probably null	Het
Cacng2	A	G	15: 77,897,518 (GRCm39)	F97S	probably benign	Het
Calu	A	G	6: 29,361,657 (GRCm39)	D107G	probably benign	Het
Capns2	G	A	8: 93,628,771 (GRCm39)	R220Q	probably damaging	Het
Catsperb	C	T	12: 101,591,985 (GRCm39)	T1105I	probably benign	Het
Cep350	T	C	1: 155,804,825 (GRCm39)	N753D	possibly damaging	Het
D6Ertd527e	C	G	6: 87,088,506 (GRCm39)	T223S	unknown	Het
Dnah5	G	T	15: 28,420,149 (GRCm39)	V3816F	probably damaging	Het
Dzip3	T	C	16: 48,771,903 (GRCm39)		probably null	Het
Ep400	A	T	5: 110,818,972 (GRCm39)		probably null	Het
Epb41l2	T	A	10: 25,371,334 (GRCm39)		probably null	Het
Fetub	T	C	16: 22,758,117 (GRCm39)	V300A	probably benign	Het
Gabrb3	A	T	7: 57,466,043 (GRCm39)	M308L	probably damaging	Het
Gimap8	G	T	6: 48,633,068 (GRCm39)	G296W	probably damaging	Het
Gpr158	A	G	2: 21,831,125 (GRCm39)	K742E	probably damaging	Het
Hmbs	T	C	9: 44,248,657 (GRCm39)	H72R	possibly damaging	Het
Krt16	A	G	11: 100,137,475 (GRCm39)	I410T	probably damaging	Het
Lamb3	G	A	1: 193,021,710 (GRCm39)	A971T	probably benign	Het
Lilra6	A	C	7: 3,914,407 (GRCm39)		probably null	Het
Mroh7	A	T	4: 106,568,451 (GRCm39)	M418K	possibly damaging	Het
Myh11	T	A	16: 14,044,484 (GRCm39)	K640*	probably null	Het
Nsd1	T	A	13: 55,394,533 (GRCm39)	C711*	probably null	Het
Or1j17	T	A	2: 36,578,155 (GRCm39)	L47Q	probably damaging	Het
Or2ak5	A	T	11: 58,611,513 (GRCm39)	Y120*	probably null	Het
Or3a10	A	G	11: 73,935,441 (GRCm39)	S220P	probably damaging	Het
Or4c111	T	C	2: 88,843,550 (GRCm39)	Y286C	probably damaging	Het
Otop3	A	T	11: 115,235,289 (GRCm39)	H307L	possibly damaging	Het
Plekhm3	T	C	1: 64,976,976 (GRCm39)	T165A	probably benign	Het
Poldip3	G	A	15: 83,022,527 (GRCm39)	R86W	probably damaging	Het
Rif1	A	T	2: 52,001,143 (GRCm39)	R1532S	probably damaging	Het
Sf3b1	C	G	1: 55,058,554 (GRCm39)	E12Q	possibly damaging	Het
Slc27a6	T	A	18: 58,712,904 (GRCm39)	L242*	probably null	Het
Spata45	T	C	1: 190,772,017 (GRCm39)	S80P	probably benign	Het
Taf4	A	G	2: 179,577,746 (GRCm39)	V525A	probably benign	Het
Tbck	A	G	3: 132,543,809 (GRCm39)	T887A	probably damaging	Het
Tnrc6c	C	T	11: 117,650,463 (GRCm39)	T1571I	probably damaging	Het
Trim38	A	G	13: 23,966,685 (GRCm39)	Y44C	probably benign	Het
Tsg101	A	T	7: 46,542,208 (GRCm39)		probably null	Het
Tsku	T	A	7: 98,002,151 (GRCm39)	D60V	probably damaging	Het
Ttc28	G	A	5: 111,373,543 (GRCm39)	S962N	probably damaging	Het
Upf1	G	A	8: 70,791,092 (GRCm39)	P550L	probably damaging	Het
Vipr2	A	G	12: 116,058,401 (GRCm39)	D106G	probably benign	Het
Vps13c	T	C	9: 67,843,745 (GRCm39)		probably null	Het
Washc4	T	C	10: 83,391,973 (GRCm39)	Y220H	probably damaging	Het
Wdr81	C	T	11: 75,342,449 (GRCm39)	W939*	probably null	Het
Zfp512b	T	C	2: 181,230,472 (GRCm39)	T473A	probably benign	Het

Other mutations in Galnt16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01916:Galnt16	APN	12	80,639,264 (GRCm39)	splice site	probably null
IGL02614:Galnt16	APN	12	80,623,337 (GRCm39)	missense	probably damaging	0.99
PIT4504001:Galnt16	UTSW	12	80,639,191 (GRCm39)	nonsense	probably null
R0032:Galnt16	UTSW	12	80,639,243 (GRCm39)	missense	probably damaging	1.00
R1109:Galnt16	UTSW	12	80,637,405 (GRCm39)	missense	probably benign
R1595:Galnt16	UTSW	12	80,637,410 (GRCm39)	missense	probably damaging	0.99
R1991:Galnt16	UTSW	12	80,630,430 (GRCm39)	missense	probably damaging	1.00
R2103:Galnt16	UTSW	12	80,630,430 (GRCm39)	missense	probably damaging	1.00
R4866:Galnt16	UTSW	12	80,630,851 (GRCm39)	missense	probably damaging	1.00
R4972:Galnt16	UTSW	12	80,619,103 (GRCm39)	nonsense	probably null
R5140:Galnt16	UTSW	12	80,628,073 (GRCm39)	missense	possibly damaging	0.94
R5228:Galnt16	UTSW	12	80,630,822 (GRCm39)	missense	probably damaging	1.00
R5414:Galnt16	UTSW	12	80,630,822 (GRCm39)	missense	probably damaging	1.00
R5592:Galnt16	UTSW	12	80,635,293 (GRCm39)	missense	probably damaging	1.00
R6433:Galnt16	UTSW	12	80,622,677 (GRCm39)	missense	probably benign	0.44
R6634:Galnt16	UTSW	12	80,565,944 (GRCm39)	start codon destroyed	probably null	0.95
R7021:Galnt16	UTSW	12	80,626,826 (GRCm39)	missense	probably damaging	0.99
R7534:Galnt16	UTSW	12	80,643,909 (GRCm39)	missense	probably damaging	0.99
R7567:Galnt16	UTSW	12	80,628,084 (GRCm39)	critical splice donor site	probably null
R7681:Galnt16	UTSW	12	80,637,413 (GRCm39)	missense	probably damaging	1.00
R7802:Galnt16	UTSW	12	80,628,021 (GRCm39)	missense	probably damaging	1.00
R7983:Galnt16	UTSW	12	80,648,598 (GRCm39)	missense	probably benign	0.00
R8678:Galnt16	UTSW	12	80,630,822 (GRCm39)	missense	probably damaging	0.98
R8750:Galnt16	UTSW	12	80,644,879 (GRCm39)	missense	probably benign	0.18
R8944:Galnt16	UTSW	12	80,623,314 (GRCm39)	missense	probably damaging	1.00
R9386:Galnt16	UTSW	12	80,644,880 (GRCm39)	missense	probably damaging	0.99
Z1177:Galnt16	UTSW	12	80,648,584 (GRCm39)	missense	probably damaging	1.00
Z1177:Galnt16	UTSW	12	80,619,121 (GRCm39)	missense	probably benign	0.14

Predicted Primers

PCR Primer
(F):5'- ACAAACGAGCACTGTGTGTTGTAGG -3'
(R):5'- CTGATGATCCGGTCGAAATGTGAGG -3'

Sequencing Primer
(F):5'- TCGGGTAAGCACTGTACCAC -3'
(R):5'- CGGTCGAAATGTGAGGAGATG -3'

Posted On

2014-04-13