Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01598:B4galnt4'

91758

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

B4galnt4

Ensembl Gene

ENSMUSG00000055629

Gene Name

beta-1,4-N-acetyl-galactosaminyl transferase 4

Synonyms

LOC381951

Accession Numbers

Genbank: NM_177897; MGI: 2652891

Essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

IGL01598

Quality Score

Status

Chromosome

Chromosomal Location

141061104-141072400 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 141070515 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 765 (R765L)

Ref Sequence

ENSEMBL: ENSMUSP00000039758 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048002]

AlphaFold

Q766D5

Predicted Effect

probably benign
Transcript: ENSMUST00000048002
AA Change: R765L

PolyPhen 2 Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000039758
Gene: ENSMUSG00000055629
AA Change: R765L

Domain	Start	End	E-Value	Type
transmembrane domain	13	31	N/A	INTRINSIC
low complexity region	68	83	N/A	INTRINSIC
PA14	129	276	6.07e-7	SMART
low complexity region	412	421	N/A	INTRINSIC
low complexity region	433	449	N/A	INTRINSIC
low complexity region	461	481	N/A	INTRINSIC
low complexity region	634	660	N/A	INTRINSIC
Pfam:CHGN	691	1024	8.9e-31	PFAM
Pfam:Glyco_transf_7C	939	1017	1.2e-15	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209546

Predicted Effect

probably benign
Transcript: ENSMUST00000210517

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211455

Coding Region Coverage

Validation Efficiency

Allele List at MGI

All alleles(3) : Targeted, knock-out(1) Gene trapped(2)

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410124H12Rik	T	A	16: 92,478,929		noncoding transcript	Het
Apc2	T	A	10: 80,313,048	L1283Q	probably damaging	Het
Apol6	G	A	15: 77,050,716	A62T	probably damaging	Het
AU018091	A	T	7: 3,162,270	I204N	possibly damaging	Het
Brca1	T	C	11: 101,524,330	T993A	probably benign	Het
Cadps	C	T	14: 12,522,202		probably null	Het
Ccdc177	A	G	12: 80,758,745	S252P	unknown	Het
Cdc73	A	G	1: 143,699,279	S59P	probably damaging	Het
Cep63	G	T	9: 102,590,458	Q570K	possibly damaging	Het
Ces1c	A	T	8: 93,118,413	I120K	probably benign	Het
Cpeb1	T	C	7: 81,361,801	M131V	probably benign	Het
Dync1h1	G	A	12: 110,658,128	V3701I	probably damaging	Het
Fxr1	T	C	3: 34,064,232	S535P	possibly damaging	Het
Gldc	A	T	19: 30,133,756	V540D	probably damaging	Het
Iqcf6	A	G	9: 106,627,508	T124A	probably benign	Het
Itih4	A	G	14: 30,887,817	I35V	possibly damaging	Het
Kmt2c	T	C	5: 25,273,666	*1525W	probably null	Het
Kmt2c	A	T	5: 25,354,771	V963E	probably damaging	Het
Lmnb2	T	C	10: 80,907,165	S202G	probably benign	Het
Med23	T	G	10: 24,903,798	S924R	probably benign	Het
Olfr1454	T	C	19: 13,064,149	V246A	probably damaging	Het
Pcif1	T	C	2: 164,886,611	F263L	possibly damaging	Het
Pon2	A	T	6: 5,272,331	L163H	probably damaging	Het
Scn1a	C	T	2: 66,302,485	V165M	possibly damaging	Het
Sema6d	C	A	2: 124,665,098	P961Q	probably damaging	Het
Snx27	A	G	3: 94,561,843	Y64H	probably damaging	Het
Srsf11	C	T	3: 158,012,035		probably benign	Het
Taok1	A	G	11: 77,571,684	V193A	probably damaging	Het
Vps13d	T	C	4: 145,016,901	T4137A	probably benign	Het
Zbtb26	T	C	2: 37,436,271	Y251C	probably damaging	Het
Zcchc11	A	G	4: 108,550,820		probably benign	Het

Other mutations in B4galnt4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02055:B4galnt4	APN	7	141070818	missense	probably damaging	1.00
IGL02248:B4galnt4	APN	7	141067808	unclassified	probably benign
IGL02955:B4galnt4	APN	7	141064678	missense	probably null	0.08
IGL03334:B4galnt4	APN	7	141067441	splice site	probably null
H8786:B4galnt4	UTSW	7	141071322	missense	probably damaging	0.99
R0520:B4galnt4	UTSW	7	141067373	nonsense	probably null
R0735:B4galnt4	UTSW	7	141064323	missense	probably benign	0.24
R1355:B4galnt4	UTSW	7	141065395	missense	probably damaging	1.00
R1864:B4galnt4	UTSW	7	141070533	missense	probably damaging	1.00
R1874:B4galnt4	UTSW	7	141070526	missense	probably damaging	1.00
R1928:B4galnt4	UTSW	7	141068148	nonsense	probably null
R1969:B4galnt4	UTSW	7	141064848	missense	probably benign	0.01
R3429:B4galnt4	UTSW	7	141070839	missense	probably damaging	1.00
R4239:B4galnt4	UTSW	7	141061326	missense	probably damaging	1.00
R4382:B4galnt4	UTSW	7	141070536	missense	probably damaging	0.99
R4517:B4galnt4	UTSW	7	141067722	missense	probably damaging	1.00
R4748:B4galnt4	UTSW	7	141071720	missense	probably damaging	1.00
R4827:B4galnt4	UTSW	7	141068479	missense	probably benign	0.00
R4831:B4galnt4	UTSW	7	141067721	missense	probably damaging	0.99
R4831:B4galnt4	UTSW	7	141064557	critical splice donor site	probably null
R4898:B4galnt4	UTSW	7	141068260	missense	probably benign	0.11
R5028:B4galnt4	UTSW	7	141068062	missense	probably benign	0.40
R5249:B4galnt4	UTSW	7	141065070	missense	probably damaging	1.00
R5267:B4galnt4	UTSW	7	141070611	missense	probably damaging	0.99
R5728:B4galnt4	UTSW	7	141070575	missense	probably benign	0.00
R5924:B4galnt4	UTSW	7	141070829	missense	probably damaging	1.00
R6063:B4galnt4	UTSW	7	141064730	missense	probably benign	0.08
R6311:B4galnt4	UTSW	7	141068659	missense	probably damaging	1.00
R6376:B4galnt4	UTSW	7	141067422	missense	possibly damaging	0.87
R6689:B4galnt4	UTSW	7	141067984	missense	probably benign	0.25
R6954:B4galnt4	UTSW	7	141067232	missense	probably benign	0.01
R6974:B4galnt4	UTSW	7	141067536	missense	possibly damaging	0.95
R7041:B4galnt4	UTSW	7	141070680	missense	probably damaging	1.00
R7092:B4galnt4	UTSW	7	141068636	missense	probably damaging	1.00
R7359:B4galnt4	UTSW	7	141071284	missense	probably damaging	1.00
R7367:B4galnt4	UTSW	7	141064475	missense	probably damaging	1.00
R7409:B4galnt4	UTSW	7	141067003	splice site	probably null
R7519:B4galnt4	UTSW	7	141064344	missense	probably damaging	1.00
R7664:B4galnt4	UTSW	7	141067713	missense	probably damaging	1.00
R7679:B4galnt4	UTSW	7	141067765	missense	probably benign	0.28
R7782:B4galnt4	UTSW	7	141065075	missense	probably damaging	1.00
R8103:B4galnt4	UTSW	7	141064651	missense	possibly damaging	0.91
R8783:B4galnt4	UTSW	7	141063846	missense	probably damaging	1.00
R8796:B4galnt4	UTSW	7	141067575	missense	probably damaging	1.00
R8855:B4galnt4	UTSW	7	141068575	missense	possibly damaging	0.68
R9545:B4galnt4	UTSW	7	141064891	missense	probably benign	0.04
R9629:B4galnt4	UTSW	7	141068662	missense	probably damaging	1.00
R9680:B4galnt4	UTSW	7	141068044	missense	possibly damaging	0.94
R9708:B4galnt4	UTSW	7	141067744	missense	probably benign
RF007:B4galnt4	UTSW	7	141070696	critical splice donor site	probably null
YA93:B4galnt4	UTSW	7	141067411	missense	possibly damaging	0.77

Posted On

2013-12-09