Mutagenetix > Incidental Mutations

Incidental Mutation 'R4239:B4galnt4'

321265

Institutional Source

Beutler Lab

Gene Symbol

B4galnt4

Ensembl Gene

ENSMUSG00000055629

Gene Name

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

Synonyms

LOC381951

MMRRC Submission

041056-MU

Accession Numbers

Genbank: NM_177897; MGI: 2652891

Is this an essential gene?

Probably non essential (E-score: 0.123) question?

Stock #

R4239 (G1)

Quality Score

122

Status

Validated

Chromosome

Chromosomal Location

141061104-141072400 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 141061326 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 18 (L18P)

Ref Sequence

ENSEMBL: ENSMUSP00000039758 (fasta)

Gene Model

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

AlphaFold

Q766D5

Predicted Effect

probably damaging
Transcript: ENSMUST00000048002
AA Change: L18P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000039758
Gene: ENSMUSG00000055629
AA Change: L18P

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

noncoding transcript
Transcript: ENSMUST00000210203

Meta Mutation Damage Score

0.4212

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

95% (55/58)

Allele List at MGI

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

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	T	C	9: 55,980,842	D397G	probably benign	Het
Alpk2	T	A	18: 65,300,141	I1765F	probably damaging	Het
Ano5	T	A	7: 51,587,666	I696N	probably damaging	Het
Areg	A	T	5: 91,143,516	N106I	probably damaging	Het
Atad2b	A	G	12: 4,985,710	N759D	probably benign	Het
Boc	T	C	16: 44,491,884	D605G	probably damaging	Het
Cfap46	G	T	7: 139,666,287	Q387K	possibly damaging	Het
Cfap74	C	A	4: 155,463,072	H1238Q	probably benign	Het
Clip2	A	G	5: 134,535,197		probably benign	Het
Cog4	T	C	8: 110,858,612	I303T	probably damaging	Het
Col18a1	C	T	10: 77,096,167	V363I	unknown	Het
Crip3	A	T	17: 46,431,230	K184*	probably null	Het
Ddi1	A	G	9: 6,265,799	M190T	probably benign	Het
Dnah3	G	A	7: 120,029,025	Q1459*	probably null	Het
Dpp8	A	G	9: 65,054,923	D415G	probably benign	Het
Ehhadh	T	G	16: 21,762,688	D518A	probably damaging	Het
Erbb2	A	G	11: 98,428,043	K549R	probably benign	Het
Fbxl3	G	A	14: 103,089,418	S176L	probably damaging	Het
Gm1979	T	C	5: 26,001,121	T154A	probably benign	Het
Gm6871	G	T	7: 41,545,780	T511K	probably damaging	Het
Gtf2h1	C	T	7: 46,805,065	A157V	probably benign	Het
Hexb	T	C	13: 97,176,751		probably benign	Het
Ifi214	A	T	1: 173,524,943	S307T	possibly damaging	Het
Ighv3-4	A	T	12: 114,253,913	D19E	probably benign	Het
Klk6	A	G	7: 43,829,173	H168R	probably benign	Het
Large2	A	G	2: 92,366,605		probably benign	Het
Myo5c	T	C	9: 75,283,942	I1086T	probably benign	Het
Nes	C	A	3: 87,979,359	P1598T	probably damaging	Het
Olfr1002	T	A	2: 85,648,303	Q6L	probably damaging	Het
Olfr539	A	G	7: 140,667,583	N99D	probably benign	Het
Olfr583	T	C	7: 103,051,796	V166A	probably benign	Het
Otud7a	A	G	7: 63,650,954	D47G	probably damaging	Het
Phactr1	T	A	13: 43,094,887	N437K	possibly damaging	Het
Plcb1	A	T	2: 135,344,158	I682F	probably damaging	Het
Plcz1	T	A	6: 140,040,618		probably null	Het
Prl7a1	T	A	13: 27,637,566	Q129L	possibly damaging	Het
Prrt4	T	C	6: 29,170,164	Y763C	probably damaging	Het
Psma7	T	C	2: 180,039,511		probably benign	Het
Serpinb6b	G	C	13: 32,972,263	C112S	probably damaging	Het
Slc14a2	G	A	18: 78,207,068	R62C	probably damaging	Het
Slc35f5	G	A	1: 125,572,474	A242T	possibly damaging	Het
Speer4b	T	C	5: 27,501,313	R19G	probably benign	Het
Trank1	A	G	9: 111,367,035	I1376V	probably benign	Het
Trbv12-2	A	G	6: 41,118,897	N12D	probably benign	Het
Uba7	T	C	9: 107,976,802		probably null	Het
Upf3a	A	G	8: 13,796,591	R324G	probably benign	Het
Usp46	T	G	5: 74,032,267		probably benign	Het
Vmn2r14	T	G	5: 109,216,411		probably null	Het
Wbp2	G	A	11: 116,080,547		probably benign	Het
Wdpcp	T	A	11: 21,695,269	N232K	probably damaging	Het
Wdpcp	T	A	11: 21,695,271	M233K	probably benign	Het
Zfp157	A	G	5: 138,447,541	I53V	probably damaging	Het

Other mutations in B4galnt4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01598:B4galnt4	APN	7	141070515	missense	probably benign	0.15
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
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
RF007:B4galnt4	UTSW	7	141070696	critical splice donor site	probably null
YA93:B4galnt4	UTSW	7	141067411	missense	possibly damaging	0.77

Predicted Primers

PCR Primer
(F):5'- TCACGGATTGGTTGTACGCG -3'
(R):5'- CCAATATAGCTGAGCTGGGAG -3'

Sequencing Primer
(F):5'- TAGTGGCCGAATCCCGTAGTC -3'
(R):5'- CTGAGCTGGGAGGAGCAG -3'

Posted On

2015-06-12