Mutagenetix > Incidental Mutation

Incidental Mutation 'R7491:St6galnac1'

580781

Institutional Source

Beutler Lab

Gene Symbol

St6galnac1

Ensembl Gene

ENSMUSG00000009588

Gene Name

ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1

Synonyms

Siat7a, ST6GalNAc I

MMRRC Submission

045565-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R7491 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

116655851-116666333 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 116660010 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 101 (K101R)

Ref Sequence

ENSEMBL: ENSMUSP00000009732 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000009732]

AlphaFold

Q9QZ39

Predicted Effect

probably benign
Transcript: ENSMUST00000009732
AA Change: K101R

PolyPhen 2 Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000009732
Gene: ENSMUSG00000009588
AA Change: K101R

Domain	Start	End	E-Value	Type
transmembrane domain	13	30	N/A	INTRINSIC
Pfam:Glyco_transf_29	230	518	2.9e-72	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Glycosylation of proteins affects cell-cell interaction, interactions with the matrix, and the functions of intracellular molecules. ST6GALNAC1 transfers a sialic acid, N-acetylneuraminic acid (NeuAc), in an alpha-2,6 linkage to O-linked GalNAc residues. The cancer-associated sialyl-Tn (sTn) antigen is formed by ST6GALNAC1-catalyzed sialylation of GalNAc residues on mucins (Ikehara et al., 1999 [PubMed 10536037]; Sewell et al., 2006 [PubMed 16319059]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	G	T	2: 68,445,099 (GRCm39)		probably null	Het
5730522E02Rik	A	T	11: 25,719,014 (GRCm39)	V44E	unknown	Het
Adcy9	A	G	16: 4,236,673 (GRCm39)	L246S	possibly damaging	Het
Adk	C	T	14: 21,284,997 (GRCm39)	H123Y	probably damaging	Het
Adra1b	T	A	11: 43,726,794 (GRCm39)	D41V	probably benign	Het
Ankib1	T	G	5: 3,751,911 (GRCm39)	K710Q	probably damaging	Het
Aoc2	T	A	11: 101,219,203 (GRCm39)	V542D	probably benign	Het
Arhgef28	T	C	13: 98,081,194 (GRCm39)	N1221S	probably benign	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,795,448 (GRCm39)		probably benign	Het
BC028528	CACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGT	CACTGGTTCTGTGGTTACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGT	3: 95,795,450 (GRCm39)		probably benign	Het
Bmal1	T	C	7: 112,898,631 (GRCm39)	V353A	probably benign	Het
Cacna1a	C	A	8: 85,285,922 (GRCm39)	R856S	possibly damaging	Het
Cacna1c	T	C	6: 118,590,304 (GRCm39)	M1559V		Het
Cdh10	G	C	15: 19,013,445 (GRCm39)	E682Q	probably damaging	Het
Celsr1	T	C	15: 85,916,719 (GRCm39)	D418G	possibly damaging	Het
Cfap44	T	C	16: 44,291,111 (GRCm39)	L1537P	probably damaging	Het
Clca3a2	A	G	3: 144,519,340 (GRCm39)	S279P	probably damaging	Het
Col2a1	C	T	15: 97,874,040 (GRCm39)	V1449I	not run	Het
Cpt2	A	G	4: 107,764,339 (GRCm39)	F475S	probably damaging	Het
Cpxm1	T	C	2: 130,235,487 (GRCm39)	T502A	probably benign	Het
Creb3l2	G	T	6: 37,356,794 (GRCm39)	T91N	probably benign	Het
D630045J12Rik	A	T	6: 38,119,601 (GRCm39)	S1714T	possibly damaging	Het
Dennd1c	C	A	17: 57,379,379 (GRCm39)	V246F	probably damaging	Het
Dse	A	G	10: 34,028,561 (GRCm39)	V843A	probably benign	Het
Ern2	C	A	7: 121,769,756 (GRCm39)	W810L	probably damaging	Het
Fer1l6	G	A	15: 58,472,281 (GRCm39)	D906N	probably damaging	Het
Fry	A	G	5: 150,389,791 (GRCm39)	E140G		Het
Galnt7	A	G	8: 58,005,552 (GRCm39)	V227A	probably damaging	Het
Gas2l3	A	G	10: 89,249,763 (GRCm39)	S452P	probably benign	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,450 (GRCm39)		probably benign	Het
Gm826	A	T	2: 160,153,942 (GRCm39)	S34T	unknown	Het
Gzmk	A	T	13: 113,308,535 (GRCm39)	I222N	probably benign	Het
Hivep3	A	T	4: 119,956,027 (GRCm39)	T1448S	probably benign	Het
Hk1	T	C	10: 62,131,524 (GRCm39)	D278G	probably damaging	Het
Ipo7	C	A	7: 109,638,401 (GRCm39)	Q223K	possibly damaging	Het
Itga9	T	A	9: 118,598,179 (GRCm39)	I571N	probably damaging	Het
Itgb6	T	C	2: 60,450,720 (GRCm39)	Y573C	probably damaging	Het
Kmt2c	T	A	5: 25,489,562 (GRCm39)	H4459L	probably damaging	Het
Limch1	T	G	5: 67,211,580 (GRCm39)	S894R	probably damaging	Het
Lrit2	A	T	14: 36,790,867 (GRCm39)	Q182L	possibly damaging	Het
Mlph	A	T	1: 90,867,100 (GRCm39)	H374L	possibly damaging	Het
Mmrn2	A	G	14: 34,121,374 (GRCm39)	H748R	probably damaging	Het
Mrpl58	T	C	11: 115,301,092 (GRCm39)	V134A	possibly damaging	Het
Nae1	A	T	8: 105,244,871 (GRCm39)	D353E	probably benign	Het
Naip5	A	C	13: 100,353,579 (GRCm39)	F1227V	probably benign	Het
Nln	A	T	13: 104,205,831 (GRCm39)	F108I	probably damaging	Het
Nop16	C	T	13: 54,736,417 (GRCm39)	V94I	probably benign	Het
Nt5c1b	A	T	12: 10,424,903 (GRCm39)	T150S	probably benign	Het
Or10d4b	T	G	9: 39,535,268 (GRCm39)	I281S	possibly damaging	Het
Pcdha4	T	C	18: 37,087,689 (GRCm39)	V624A	probably damaging	Het
Pcdhga8	T	C	18: 37,860,483 (GRCm39)	I513T	probably benign	Het
Prc1	A	T	7: 79,959,239 (GRCm39)		probably null	Het
Prpf4	T	A	4: 62,336,113 (GRCm39)	F280Y	probably damaging	Het
Ptprd	T	C	4: 76,051,392 (GRCm39)	E43G	probably benign	Het
Pum1	T	A	4: 130,446,485 (GRCm39)	D181E	probably benign	Het
Rab7	A	G	6: 87,990,624 (GRCm39)	S17P	probably damaging	Het
Rgs1	T	C	1: 144,121,134 (GRCm39)	Y179C	probably damaging	Het
Rrm1	T	C	7: 102,103,764 (GRCm39)	C238R	probably damaging	Het
Rusc2	T	A	4: 43,426,528 (GRCm39)	L1484Q	probably damaging	Het
Sall3	C	T	18: 81,015,920 (GRCm39)	M669I	probably benign	Het
Saxo1	A	C	4: 86,363,644 (GRCm39)	F280V	probably benign	Het
Scn2a	T	C	2: 65,532,352 (GRCm39)	S655P	probably damaging	Het
Senp6	G	T	9: 80,031,010 (GRCm39)	E571*	probably null	Het
Sin3b	C	G	8: 73,473,069 (GRCm39)	T463S	probably damaging	Het
Sirt7	C	A	11: 120,509,837 (GRCm39)	R349L	probably benign	Het
Skor1	T	C	9: 63,053,730 (GRCm39)	T80A	probably damaging	Het
Slc12a9	C	A	5: 137,321,082 (GRCm39)	A478S	probably damaging	Het
Slc25a23	T	A	17: 57,359,822 (GRCm39)	R310*	probably null	Het
Slco6c1	A	T	1: 97,055,579 (GRCm39)	H107Q	probably benign	Het
Slit2	A	G	5: 48,377,336 (GRCm39)	E455G	probably benign	Het
Smo	G	C	6: 29,736,119 (GRCm39)	G37A	probably damaging	Het
Stat1	C	A	1: 52,191,530 (GRCm39)	N628K	probably benign	Het
Syn2	A	T	6: 115,231,615 (GRCm39)	Y302F	probably benign	Het
Tapt1	T	G	5: 44,345,978 (GRCm39)	Q324P	probably damaging	Het
Tgoln1	C	T	6: 72,593,403 (GRCm39)	A26T	unknown	Het
Timm13	T	A	10: 80,736,378 (GRCm39)	T43S	probably benign	Het
Tnfrsf19	G	A	14: 61,242,654 (GRCm39)	P77S	possibly damaging	Het
Trem3	T	G	17: 48,564,969 (GRCm39)	F157V	probably benign	Het
Trgv3	T	A	13: 19,427,016 (GRCm39)	M1K	probably null	Het
Trim33	T	A	3: 103,233,464 (GRCm39)	S420T	probably benign	Het
Trip11	T	C	12: 101,851,694 (GRCm39)	K790R	probably damaging	Het
Trnt1	A	G	6: 106,755,865 (GRCm39)	T307A	probably benign	Het
Tshz1	T	C	18: 84,033,766 (GRCm39)	Y214C	probably damaging	Het
Vmn2r105	T	A	17: 20,448,827 (GRCm39)	T117S	probably benign	Het
Vmn2r45	A	G	7: 8,484,342 (GRCm39)	Y488H	probably benign	Het
Vwa8	A	T	14: 79,320,254 (GRCm39)	K1088N	probably benign	Het
Wdr35	T	C	12: 9,036,000 (GRCm39)	V257A	probably benign	Het
Zfp189	T	A	4: 49,521,569 (GRCm39)	S3T	probably benign	Het
Zscan22	G	A	7: 12,640,833 (GRCm39)	C359Y	probably damaging	Het
Zscan4-ps2	A	T	7: 11,251,812 (GRCm39)	R283*	probably null	Het

Other mutations in St6galnac1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00227:St6galnac1	APN	11	116,658,532 (GRCm39)	missense	probably damaging	1.00
IGL01451:St6galnac1	APN	11	116,660,165 (GRCm39)	missense	probably benign	0.00
IGL01873:St6galnac1	APN	11	116,657,437 (GRCm39)	missense	probably damaging	0.98
IGL02569:St6galnac1	APN	11	116,658,528 (GRCm39)	missense	probably damaging	1.00
IGL02799:St6galnac1	APN	11	116,657,473 (GRCm39)	splice site	probably benign
IGL02935:St6galnac1	APN	11	116,660,171 (GRCm39)	missense	probably benign
IGL03124:St6galnac1	APN	11	116,666,125 (GRCm39)	missense	probably benign	0.00
PIT4520001:St6galnac1	UTSW	11	116,660,175 (GRCm39)	missense	probably benign	0.00
R0126:St6galnac1	UTSW	11	116,657,410 (GRCm39)	missense	probably benign	0.00
R0363:St6galnac1	UTSW	11	116,659,756 (GRCm39)	missense	probably benign	0.36
R0394:St6galnac1	UTSW	11	116,657,466 (GRCm39)	missense	probably damaging	0.99
R0828:St6galnac1	UTSW	11	116,659,823 (GRCm39)	missense	probably benign	0.05
R1569:St6galnac1	UTSW	11	116,660,097 (GRCm39)	missense	possibly damaging	0.46
R1570:St6galnac1	UTSW	11	116,657,474 (GRCm39)	splice site	probably benign
R1591:St6galnac1	UTSW	11	116,656,689 (GRCm39)	missense	probably damaging	1.00
R1602:St6galnac1	UTSW	11	116,660,113 (GRCm39)	missense	probably benign	0.00
R2088:St6galnac1	UTSW	11	116,659,933 (GRCm39)	missense	probably benign	0.00
R2212:St6galnac1	UTSW	11	116,656,682 (GRCm39)	missense	probably damaging	1.00
R2266:St6galnac1	UTSW	11	116,658,673 (GRCm39)	nonsense	probably null
R3413:St6galnac1	UTSW	11	116,656,682 (GRCm39)	missense	probably damaging	1.00
R3835:St6galnac1	UTSW	11	116,657,109 (GRCm39)	missense	probably damaging	1.00
R5016:St6galnac1	UTSW	11	116,656,706 (GRCm39)	missense	probably damaging	1.00
R5446:St6galnac1	UTSW	11	116,657,095 (GRCm39)	missense	probably benign	0.37
R6625:St6galnac1	UTSW	11	116,656,717 (GRCm39)	missense	probably damaging	1.00
R6805:St6galnac1	UTSW	11	116,659,770 (GRCm39)	missense	probably damaging	1.00
R7007:St6galnac1	UTSW	11	116,657,833 (GRCm39)	nonsense	probably null
R7133:St6galnac1	UTSW	11	116,657,899 (GRCm39)	missense	possibly damaging	0.89
R7724:St6galnac1	UTSW	11	116,656,898 (GRCm39)	critical splice donor site	probably null
R7812:St6galnac1	UTSW	11	116,659,927 (GRCm39)	missense	probably benign	0.16
R8160:St6galnac1	UTSW	11	116,666,316 (GRCm39)	start gained	probably benign
R8341:St6galnac1	UTSW	11	116,659,714 (GRCm39)	missense	probably benign	0.00
R8373:St6galnac1	UTSW	11	116,660,059 (GRCm39)	missense	possibly damaging	0.62
R8379:St6galnac1	UTSW	11	116,666,325 (GRCm39)	start gained	probably benign
R8524:St6galnac1	UTSW	11	116,658,547 (GRCm39)	missense	possibly damaging	0.69
Z1177:St6galnac1	UTSW	11	116,666,254 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- TGAACTCAGAGGCCTTCAGC -3'
(R):5'- CAGGTGCCAGTTCATATGGAAG -3'

Sequencing Primer
(F):5'- ATTTGGTAGCCTGGACCAC -3'
(R):5'- CCAGTTCATATGGAAGAATGACGC -3'

Posted On

2019-10-17