Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02126:Galntl5'

280878

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Galntl5

Ensembl Gene

ENSMUSG00000028938

Gene Name

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

Synonyms

1700021B12Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02126

Quality Score

Status

Chromosome

Chromosomal Location

25386458-25425295 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 25394839 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 69 (F69L)

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: F69L

PolyPhen 2 Score 0.745 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000030778
Gene: ENSMUSG00000028938
AA Change: F69L

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: F36L

PolyPhen 2 Score 0.565 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000110616
Gene: ENSMUSG00000028938
AA Change: F36L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158217

Coding Region Coverage

Validation Efficiency

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh16a1	G	A	7: 44,795,459 (GRCm39)	P400L	probably damaging	Het
Angptl3	T	C	4: 98,919,738 (GRCm39)		probably null	Het
Atoh1	T	C	6: 64,706,334 (GRCm39)	W10R	probably damaging	Het
Brd8	C	T	18: 34,735,780 (GRCm39)	S899N	probably damaging	Het
Ccm2	A	G	11: 6,544,154 (GRCm39)	T317A	probably damaging	Het
Ccnt1	A	T	15: 98,465,484 (GRCm39)	W12R	probably damaging	Het
Celf1	T	A	2: 90,831,408 (GRCm39)	L79H	probably damaging	Het
Cmip	T	C	8: 118,175,770 (GRCm39)	V423A	probably damaging	Het
Ddr1	T	A	17: 35,999,481 (GRCm39)	I431F	probably damaging	Het
Dnah6	A	G	6: 73,080,149 (GRCm39)	L2343P	probably benign	Het
Duox1	A	G	2: 122,176,817 (GRCm39)	D1446G	probably benign	Het
Erich3	A	G	3: 154,419,599 (GRCm39)	H231R	possibly damaging	Het
Fam221b	T	A	4: 43,666,450 (GRCm39)	I54F	probably benign	Het
Fcgbpl1	G	A	7: 27,839,281 (GRCm39)	V365M	probably damaging	Het
Gba2	T	G	4: 43,567,918 (GRCm39)		probably null	Het
Gbf1	C	A	19: 46,240,556 (GRCm39)	P46Q	probably damaging	Het
Gimap6	T	G	6: 48,679,635 (GRCm39)	S134R	probably damaging	Het
Gm5424	A	C	10: 61,907,377 (GRCm39)		noncoding transcript	Het
Hexb	T	C	13: 97,314,532 (GRCm39)	K404E	possibly damaging	Het
Hs3st3a1	G	A	11: 64,327,331 (GRCm39)	V147M	probably damaging	Het
Hsd17b4	T	C	18: 50,315,063 (GRCm39)	V610A	probably benign	Het
Loxl3	T	A	6: 83,025,628 (GRCm39)	W329R	probably damaging	Het
Lrrc52	A	G	1: 167,273,575 (GRCm39)	F247S	probably damaging	Het
Naa38	C	T	11: 69,287,045 (GRCm39)	R42W	probably damaging	Het
Nadsyn1	G	A	7: 143,357,753 (GRCm39)	Q485*	probably null	Het
Nid1	A	G	13: 13,663,743 (GRCm39)		probably null	Het
Ofcc1	T	C	13: 40,362,251 (GRCm39)	T224A	probably benign	Het
Or5m11b	T	G	2: 85,806,517 (GRCm39)	I310S	probably benign	Het
Palld	A	G	8: 62,330,476 (GRCm39)	Y134H	possibly damaging	Het
Pfkfb4	C	T	9: 108,854,178 (GRCm39)	R351W	probably damaging	Het
Pfn3	T	C	13: 55,562,699 (GRCm39)	D94G	possibly damaging	Het
Pkhd1	G	A	1: 20,187,419 (GRCm39)	R3630C	probably damaging	Het
Por	T	A	5: 135,744,829 (GRCm39)	F31I	probably benign	Het
Ppp1r12c	T	C	7: 4,492,858 (GRCm39)	E127G	probably benign	Het
Ppp1r9a	T	A	6: 5,156,229 (GRCm39)	S1162T	probably damaging	Het
Psen2	C	A	1: 180,057,488 (GRCm39)	A297S	probably benign	Het
Rpusd2	G	A	2: 118,869,119 (GRCm39)	R514Q	probably damaging	Het
Rxrg	A	G	1: 167,462,029 (GRCm39)	M235V	probably damaging	Het
Sash1	T	C	10: 8,615,229 (GRCm39)	M644V	probably damaging	Het
Sf3b3	T	C	8: 111,550,075 (GRCm39)	T648A	probably benign	Het
Slco1a7	T	A	6: 141,684,739 (GRCm39)	T239S	probably benign	Het
Ssu72	T	C	4: 155,816,483 (GRCm39)	I155T	probably benign	Het
Tas2r102	A	G	6: 132,739,607 (GRCm39)	R172G	probably damaging	Het
Tmem214	G	A	5: 31,030,090 (GRCm39)	A296T	probably benign	Het
Trav12-2	C	A	14: 53,853,859 (GRCm39)	N2K	probably damaging	Het
Tyrp1	C	T	4: 80,755,845 (GRCm39)	Q205*	probably null	Het
Ubr4	T	A	4: 139,180,052 (GRCm39)		probably null	Het
Ush2a	A	G	1: 187,995,588 (GRCm39)	S120G	probably benign	Het
Vmn2r100	T	C	17: 19,741,504 (GRCm39)		probably benign	Het
Zer1	G	T	2: 29,994,928 (GRCm39)	T489K	probably benign	Het
Zfp955b	G	T	17: 33,521,238 (GRCm39)	G236*	probably null	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
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
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

Posted On

2015-04-16