Mutagenetix > Incidental Mutation

Incidental Mutation 'R7983:Galnt16'

651328

Institutional Source

Beutler Lab

Gene Symbol

Galnt16

Ensembl Gene

ENSMUSG00000021130

Gene Name

polypeptide N-acetylgalactosaminyltransferase 16

Synonyms

Galntl1, 5730405L21Rik

MMRRC Submission

046024-MU

Accession Numbers

Essential gene?

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

Stock #

R7983 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80565245-80650672 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 80648598 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 557 (H557Y)

Ref Sequence

ENSEMBL: ENSMUSP00000021558 (fasta)

Gene Model

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

AlphaFold

Q9JJ61

Predicted Effect

probably benign
Transcript: ENSMUST00000021558
AA Change: H557Y

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000021558
Gene: ENSMUSG00000021130
AA Change: H557Y

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

probably benign
Transcript: ENSMUST00000218943
AA Change: H557Y

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Predicted Effect

probably benign
Transcript: ENSMUST00000219993
AA Change: H557Y

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

95% (39/41)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Casd1	G	T	6: 4,624,472 (GRCm39)	E422*	probably null	Het
Ccdc7a	T	C	8: 129,607,559 (GRCm39)	T1007A	possibly damaging	Het
Cdr1	AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC	AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC	X: 60,228,130 (GRCm39)		probably benign	Het
Cds2	T	G	2: 132,105,430 (GRCm39)		probably null	Het
Cfap100	G	A	6: 90,392,687 (GRCm39)	T141I		Het
Chd7	T	A	4: 8,752,628 (GRCm39)	M375K	unknown	Het
Chd7	T	A	4: 8,844,609 (GRCm39)	S1573T	possibly damaging	Het
Cplane1	T	A	15: 8,251,299 (GRCm39)	V1857E	probably benign	Het
Crybb2	T	C	5: 113,209,946 (GRCm39)	E139G	probably benign	Het
Csn2	T	C	5: 87,842,356 (GRCm39)	T224A	probably benign	Het
Csnk2b	T	C	17: 35,335,304 (GRCm39)	H231R	possibly damaging	Het
Cthrc1	A	G	15: 38,940,550 (GRCm39)	D51G	probably benign	Het
Cyp2a5	A	T	7: 26,539,866 (GRCm39)	T305S	probably benign	Het
Cyp4a29	A	T	4: 115,108,099 (GRCm39)	D307V	probably damaging	Het
Dhrs7b	T	C	11: 60,743,287 (GRCm39)	V188A	possibly damaging	Het
Dna2	A	G	10: 62,791,173 (GRCm39)	D224G	probably benign	Het
Dnah7b	T	A	1: 46,282,584 (GRCm39)	L2906M	probably damaging	Het
Eif4g3	A	T	4: 137,878,904 (GRCm39)	E545D	probably benign	Het
Foxq1	T	C	13: 31,743,972 (GRCm39)	F358S	possibly damaging	Het
Kcnb2	T	C	1: 15,383,004 (GRCm39)	M110T	probably damaging	Het
Ldlrad4	G	T	18: 68,368,740 (GRCm39)	A66S	possibly damaging	Het
Nalcn	T	C	14: 123,830,409 (GRCm39)	I144V	probably benign	Het
Napsa	T	A	7: 44,234,751 (GRCm39)	N295K	possibly damaging	Het
Nup50l	C	A	6: 96,142,888 (GRCm39)	G52V	probably damaging	Het
Or2ag20	T	C	7: 106,464,958 (GRCm39)	V257A	probably benign	Het
Or5k1b	G	A	16: 58,581,377 (GRCm39)	S54F	probably benign	Het
Plch1	T	C	3: 63,615,164 (GRCm39)	D778G	probably damaging	Het
Pnlip	G	A	19: 58,668,491 (GRCm39)	V361I	probably benign	Het
Pou4f2	G	T	8: 79,161,568 (GRCm39)	A345E	probably benign	Het
Prr11	C	T	11: 86,982,637 (GRCm39)	D365N	possibly damaging	Het
Ptprq	G	T	10: 107,444,272 (GRCm39)	S1444*	probably null	Het
R3hdm4	A	T	10: 79,748,557 (GRCm39)	V129E	probably damaging	Het
Retnlg	T	C	16: 48,693,261 (GRCm39)	S13P	probably damaging	Het
Rgmb	T	C	17: 16,041,189 (GRCm39)	T133A	possibly damaging	Het
Rin3	A	C	12: 102,335,418 (GRCm39)	H443P	probably benign	Het
Rnf152	T	C	1: 105,212,089 (GRCm39)	D156G	probably benign	Het
Sfmbt1	A	G	14: 30,519,673 (GRCm39)		probably null	Het
Slc25a46	G	A	18: 31,716,483 (GRCm39)	R340C	probably damaging	Het
Sp4	A	T	12: 118,264,967 (GRCm39)	M1K	probably null	Het
Ss18l2	T	C	9: 121,541,675 (GRCm39)	I64T	probably damaging	Het
Sult2a4	G	A	7: 13,649,152 (GRCm39)	S219F	probably damaging	Het
Tnip3	A	C	6: 65,515,630 (GRCm39)	D25A	probably damaging	Het
Trac	A	G	14: 54,458,214 (GRCm39)	T79A		Het
Vmn2r36	A	G	7: 7,905,415 (GRCm39)	L16P	probably damaging	Het
Zswim2	A	G	2: 83,753,911 (GRCm39)		probably null	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
R1560:Galnt16	UTSW	12	80,648,566 (GRCm39)	missense	possibly damaging	0.77
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
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'- GCATGTCGGGTAAGCACTGTAC -3'
(R):5'- CCCTGCCTGAACTAGCTTTG -3'

Sequencing Primer
(F):5'- TGTACCACAGAGCTCCAGC -3'
(R):5'- CTGCCTGAACTAGCTTTGGAGAAATG -3'

Posted On

2020-09-15