Mutagenetix > Incidental Mutation

Incidental Mutation 'R9044:Galntl5'

687908

Institutional Source

Beutler Lab

Gene Symbol

Galntl5

Ensembl Gene

ENSMUSG00000028938

Gene Name

UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5

Synonyms

1700021B12Rik

MMRRC Submission

068871-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9044 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25386458-25425295 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 25415326 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 286 (P286S)

Ref Sequence

ENSEMBL: ENSMUSP00000030778 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030778] [ENSMUST00000114965]

AlphaFold

Q9D4M9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030778
AA Change: P286S

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000030778
Gene: ENSMUSG00000028938
AA Change: P286S

Domain	Start	End	E-Value	Type
transmembrane domain	5	27	N/A	INTRINSIC
low complexity region	29	50	N/A	INTRINSIC
Pfam:Glyco_tranf_2_3	115	365	4.1e-10	PFAM
Pfam:Glycos_transf_2	118	304	4.2e-30	PFAM
Pfam:Glyco_tranf_2_2	118	383	1.7e-7	PFAM
Pfam:Glyco_transf_7C	277	349	2.2e-8	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114965
AA Change: P253S

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000110616
Gene: ENSMUSG00000028938
AA Change: P253S

Domain	Start	End	E-Value	Type
low complexity region	2	17	N/A	INTRINSIC
Pfam:Glyco_tranf_2_3	82	332	1.8e-10	PFAM
Pfam:Glycos_transf_2	85	271	3.3e-28	PFAM
Pfam:Glyco_tranf_2_2	85	350	8.1e-8	PFAM
Pfam:Glyco_transf_7C	244	316	2.4e-8	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.1%

Validation Efficiency

95% (62/65)

MGI Phenotype

PHENOTYPE: Male heterozygous mice for this allele were infertile due to decreased sperm motility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	A	T	10: 78,902,314 (GRCm39)	Y667*	probably null	Het
Acacb	A	G	5: 114,373,578 (GRCm39)	H1869R	probably benign	Het
Adgrb1	A	G	15: 74,441,748 (GRCm39)	T950A	possibly damaging	Het
Alms1	T	A	6: 85,673,735 (GRCm39)	L3110Q	probably damaging	Het
Ambra1	A	T	2: 91,740,434 (GRCm39)		probably benign	Het
Brpf3	A	T	17: 29,025,871 (GRCm39)	N315Y	possibly damaging	Het
Clxn	A	G	16: 14,738,261 (GRCm39)	D142G	probably damaging	Het
Cpne7	C	T	8: 123,856,951 (GRCm39)	P402L	probably damaging	Het
Cyba	T	A	8: 123,151,630 (GRCm39)	D189V	probably benign	Het
Dexi	A	G	16: 10,321,385 (GRCm39)		probably benign	Het
Dnah2	C	T	11: 69,420,247 (GRCm39)	V156I	probably benign	Het
Drc7	T	C	8: 95,797,077 (GRCm39)	V420A	probably damaging	Het
Eef2k	T	A	7: 120,479,584 (GRCm39)	V167E	probably damaging	Het
Eid2	T	C	7: 27,968,038 (GRCm39)	I220T	possibly damaging	Het
Fggy	A	C	4: 95,732,334 (GRCm39)	T442P	probably benign	Het
Foxi3	T	G	6: 70,933,683 (GRCm39)	S57A	probably benign	Het
Foxi3	T	A	6: 70,934,186 (GRCm39)		probably null	Het
Gm5592	A	G	7: 40,938,274 (GRCm39)	K519E	probably benign	Het
Gse1	T	A	8: 120,957,269 (GRCm39)	S587T	unknown	Het
Kcns1	G	T	2: 164,009,996 (GRCm39)	F254L	probably damaging	Het
Kif15	A	G	9: 122,840,781 (GRCm39)	T23A	probably benign	Het
Kif16b	T	C	2: 142,541,577 (GRCm39)	Q1241R	possibly damaging	Het
Lck	A	T	4: 129,450,098 (GRCm39)	L205Q	probably damaging	Het
Map9	C	T	3: 82,287,525 (GRCm39)	A420V	possibly damaging	Het
Mdm2	A	T	10: 117,530,960 (GRCm39)	D170E		Het
Mllt6	T	A	11: 97,554,485 (GRCm39)	C30S	probably damaging	Het
Muc5b	T	G	7: 141,411,795 (GRCm39)	D1580E	unknown	Het
Oaf	C	T	9: 43,135,308 (GRCm39)	A157T	probably damaging	Het
Or13a19	A	G	7: 139,902,485 (GRCm39)		probably benign	Het
Or2ab1	T	A	11: 58,489,126 (GRCm39)	N295K	possibly damaging	Het
Or2n1d	A	T	17: 38,646,320 (GRCm39)	T91S	possibly damaging	Het
Osbp2	T	C	11: 3,667,128 (GRCm39)	I8V	probably damaging	Het
Pcdh9	T	C	14: 94,124,247 (GRCm39)	Y641C	probably damaging	Het
Phf10	A	T	17: 15,166,584 (GRCm39)	C429S	probably damaging	Het
Plekha6	C	G	1: 133,201,687 (GRCm39)	P367A	probably benign	Het
Plekha6	C	A	1: 133,201,688 (GRCm39)	P367Q	possibly damaging	Het
Plod2	T	A	9: 92,489,273 (GRCm39)	I756K	probably damaging	Het
Plxnb2	C	A	15: 89,044,566 (GRCm39)		probably benign	Het
Pop1	T	A	15: 34,530,554 (GRCm39)	M1014K	possibly damaging	Het
Prrt4	T	C	6: 29,171,540 (GRCm39)	D304G	probably benign	Het
Rcan2	C	A	17: 44,147,245 (GRCm39)	L28I	probably benign	Het
Rffl	C	T	11: 82,701,020 (GRCm39)	V269I	probably benign	Het
Rhox3c	C	T	X: 36,651,303 (GRCm39)		probably benign	Het
Ric1	C	T	19: 29,577,294 (GRCm39)	A1066V	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Ryr2	A	T	13: 11,752,989 (GRCm39)	Y1777*	probably null	Het
Scart2	G	T	7: 139,828,010 (GRCm39)	G73C	probably damaging	Het
Sh3tc1	T	G	5: 35,854,834 (GRCm39)	K1288Q	possibly damaging	Het
Slc10a5	A	C	3: 10,399,792 (GRCm39)	I289M	probably damaging	Het
Slc16a9	A	G	10: 70,110,797 (GRCm39)	T128A	probably benign	Het
Slc7a11	T	C	3: 50,333,632 (GRCm39)	H373R	probably benign	Het
Spesp1	A	G	9: 62,180,623 (GRCm39)	I95T	probably benign	Het
Sra1	C	T	18: 36,800,946 (GRCm39)	V131I	probably benign	Het
Stxbp5l	A	G	16: 37,024,930 (GRCm39)	V556A	possibly damaging	Het
Sycp2	T	C	2: 177,989,617 (GRCm39)	E1414G	probably damaging	Het
Trac	A	T	14: 54,458,148 (GRCm39)	K57*	probably null	Het
Trps1	T	C	15: 50,686,003 (GRCm39)	E724G	probably benign	Het
Tubgcp6	T	G	15: 88,987,397 (GRCm39)	D1192A	possibly damaging	Het
Usp48	G	A	4: 137,340,996 (GRCm39)	G332E	probably benign	Het
Vps18	T	G	2: 119,128,034 (GRCm39)	I952M	probably damaging	Het
Wdr36	T	C	18: 32,970,499 (GRCm39)	F20S	probably damaging	Het
Wdr62	C	A	7: 29,962,062 (GRCm39)	R450L	probably benign	Het
Xab2	T	C	8: 3,668,641 (GRCm39)	K76E	probably benign	Het
Zpr1	A	G	9: 46,190,995 (GRCm39)	D300G	probably damaging	Het

Other mutations in Galntl5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01543:Galntl5	APN	5	25,400,349 (GRCm39)	missense	probably damaging	1.00
IGL01637:Galntl5	APN	5	25,394,823 (GRCm39)	splice site	probably benign
IGL02126:Galntl5	APN	5	25,394,839 (GRCm39)	missense	possibly damaging	0.75
IGL02136:Galntl5	APN	5	25,425,060 (GRCm39)	missense	probably benign	0.16
IGL02836:Galntl5	APN	5	25,391,237 (GRCm39)	missense	probably benign
R0076:Galntl5	UTSW	5	25,391,070 (GRCm39)	critical splice acceptor site	probably null
R0411:Galntl5	UTSW	5	25,425,172 (GRCm39)	missense	probably benign	0.20
R1376:Galntl5	UTSW	5	25,391,286 (GRCm39)	missense	probably benign	0.16
R1376:Galntl5	UTSW	5	25,391,286 (GRCm39)	missense	probably benign	0.16
R1686:Galntl5	UTSW	5	25,415,432 (GRCm39)	missense	probably benign	0.16
R1724:Galntl5	UTSW	5	25,425,120 (GRCm39)	missense	possibly damaging	0.94
R1899:Galntl5	UTSW	5	25,403,530 (GRCm39)	nonsense	probably null
R2213:Galntl5	UTSW	5	25,422,527 (GRCm39)	missense	probably benign	0.13
R2215:Galntl5	UTSW	5	25,403,476 (GRCm39)	missense	probably damaging	1.00
R2425:Galntl5	UTSW	5	25,425,079 (GRCm39)	missense	probably damaging	0.99
R3811:Galntl5	UTSW	5	25,391,178 (GRCm39)	missense	probably benign	0.19
R3812:Galntl5	UTSW	5	25,391,178 (GRCm39)	missense	probably benign	0.19
R4072:Galntl5	UTSW	5	25,403,478 (GRCm39)	nonsense	probably null
R4660:Galntl5	UTSW	5	25,408,377 (GRCm39)	missense	probably damaging	1.00
R5792:Galntl5	UTSW	5	25,403,461 (GRCm39)	missense	possibly damaging	0.59
R5844:Galntl5	UTSW	5	25,391,091 (GRCm39)	intron	probably benign
R6267:Galntl5	UTSW	5	25,391,163 (GRCm39)	missense	probably benign
R6296:Galntl5	UTSW	5	25,391,163 (GRCm39)	missense	probably benign
R6896:Galntl5	UTSW	5	25,394,947 (GRCm39)	critical splice donor site	probably null
R7138:Galntl5	UTSW	5	25,394,842 (GRCm39)	missense	probably benign	0.13
R7256:Galntl5	UTSW	5	25,400,298 (GRCm39)	missense	probably benign	0.00
R9147:Galntl5	UTSW	5	25,415,353 (GRCm39)	missense	possibly damaging	0.84
R9148:Galntl5	UTSW	5	25,415,353 (GRCm39)	missense	possibly damaging	0.84
R9488:Galntl5	UTSW	5	25,415,437 (GRCm39)	missense	probably damaging	1.00
Z1176:Galntl5	UTSW	5	25,408,187 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCAGTACCTGACCCTGTCTG -3'
(R):5'- AGATGAACCATCACCTCTCTTTG -3'

Sequencing Primer
(F):5'- TGGATGATCCTAGAGCCCACTAG -3'
(R):5'- TTGTATACACACAAAGCTGCATGAGG -3'

Posted On

2021-11-19