Mutagenetix > Incidental Mutation

Incidental Mutation 'R6896:Galntl5'

538324

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

044990-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6896 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25386458-25425295 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 25394947 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000110616 (fasta)

Gene Model

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

AlphaFold

Q9D4M9

Predicted Effect

probably null
Transcript: ENSMUST00000030778

SMART Domains

Protein: ENSMUSP00000030778
Gene: ENSMUSG00000028938

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

probably null
Transcript: ENSMUST00000114965

SMART Domains

Protein: ENSMUSP00000110616
Gene: ENSMUSG00000028938

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: 99.2%
20x: 97.3%

Validation Efficiency

98% (49/50)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg2	T	C	6: 58,660,298 (GRCm39)	L454P	probably damaging	Het
Acadm	T	C	3: 153,641,957 (GRCm39)	I192V	probably damaging	Het
Acadsb	T	A	7: 131,045,375 (GRCm39)	Y436N	probably benign	Het
Ache	G	A	5: 137,289,996 (GRCm39)	V442M	probably damaging	Het
Adam39	A	T	8: 41,277,975 (GRCm39)	N122I	possibly damaging	Het
Akap6	A	T	12: 52,934,277 (GRCm39)	I590F	probably benign	Het
Akap8	T	C	17: 32,536,305 (GRCm39)	N36S	probably benign	Het
Asap2	T	C	12: 21,315,526 (GRCm39)	S933P	probably damaging	Het
C3	C	T	17: 57,527,864 (GRCm39)		probably null	Het
Cdon	T	A	9: 35,363,402 (GRCm39)	M1K	probably null	Het
Cemip	T	A	7: 83,647,784 (GRCm39)	I99F	probably damaging	Het
Cfap251	A	G	5: 123,416,421 (GRCm39)	T565A	possibly damaging	Het
Cfap58	T	G	19: 47,932,626 (GRCm39)	L130R	probably damaging	Het
Clca3a2	T	C	3: 144,514,462 (GRCm39)	D415G	probably damaging	Het
Coch	A	G	12: 51,649,652 (GRCm39)	D321G	possibly damaging	Het
Dync2i1	C	T	12: 116,193,291 (GRCm39)	G554R	possibly damaging	Het
Efcab11	A	G	12: 99,849,674 (GRCm39)		probably benign	Het
Ermap	G	T	4: 119,044,328 (GRCm39)	S156*	probably null	Het
Fap	G	T	2: 62,334,944 (GRCm39)	Y620*	probably null	Het
Il21r	C	A	7: 125,226,128 (GRCm39)	H76N	probably damaging	Het
Itpr1	T	G	6: 108,458,355 (GRCm39)	Y2041D	probably damaging	Het
Megf8	T	A	7: 25,029,357 (GRCm39)	N300K	probably benign	Het
Muc2	G	A	7: 141,306,432 (GRCm39)	V285I	possibly damaging	Het
Myh15	A	T	16: 48,933,434 (GRCm39)	Q623L	probably benign	Het
Myh7b	T	C	2: 155,464,488 (GRCm39)		probably null	Het
Naaladl1	T	A	19: 6,159,335 (GRCm39)		probably null	Het
Nlrp9b	T	G	7: 19,757,170 (GRCm39)	F136V	probably damaging	Het
Oprd1	A	T	4: 131,844,612 (GRCm39)	M132K	probably damaging	Het
Or10a3b	T	C	7: 108,444,750 (GRCm39)	T156A	probably benign	Het
Or4s2b	A	G	2: 88,508,340 (GRCm39)	N47S	probably damaging	Het
Or6c70	A	T	10: 129,710,623 (GRCm39)	M1K	probably null	Het
Or9g4	A	G	2: 85,505,277 (GRCm39)	Y73H	probably damaging	Het
Patj	T	A	4: 98,314,287 (GRCm39)	V369D	possibly damaging	Het
Pcdhb3	T	C	18: 37,434,265 (GRCm39)	L77P	probably damaging	Het
Pcf11	T	C	7: 92,298,759 (GRCm39)	D1259G	probably damaging	Het
Pdcl	A	T	2: 37,242,191 (GRCm39)	H186Q	probably damaging	Het
Pdzd9	A	T	7: 120,262,095 (GRCm39)	*77R	probably null	Het
Reln	C	T	5: 22,104,177 (GRCm39)	E3265K	probably benign	Het
Smg8	T	C	11: 86,968,787 (GRCm39)	T990A	possibly damaging	Het
Smok2a	C	T	17: 13,444,758 (GRCm39)	H112Y	probably benign	Het
Spatc1l	G	A	10: 76,405,242 (GRCm39)	R208H	probably damaging	Het
Taf7	T	C	18: 37,775,733 (GRCm39)	D278G	possibly damaging	Het
Vipas39	T	C	12: 87,289,345 (GRCm39)	N373S	probably benign	Het
Vmn2r78	C	T	7: 86,571,558 (GRCm39)	T456I	probably benign	Het
Vwf	T	C	6: 125,543,157 (GRCm39)	S148P	probably damaging	Het
Xpot	A	C	10: 121,449,390 (GRCm39)		probably null	Het
Zdbf2	A	T	1: 63,348,031 (GRCm39)	R2137W	probably damaging	Het
Zfp462	T	A	4: 55,009,544 (GRCm39)	N503K	possibly damaging	Het
Zfp641	T	A	15: 98,191,684 (GRCm39)	M1L	probably benign	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
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
R9044:Galntl5	UTSW	5	25,415,326 (GRCm39)	missense	possibly damaging	0.94
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'- TGGGGTTAGTTTAGAGACCAAG -3'
(R):5'- AATGCTTTGGACAGAACTGAGG -3'

Sequencing Primer
(F):5'- GAATGCATCTGCGTAACAGC -3'
(R):5'- CTTTGGACAGAACTGAGGAAAAATCC -3'

Posted On

2018-11-06