Mutagenetix > Incidental Mutation

Incidental Mutation 'R7359:B4galnt4'

571196

Institutional Source

Beutler Lab

Gene Symbol

B4galnt4

Ensembl Gene

ENSMUSG00000055629

Gene Name

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

Synonyms

LOC381951

MMRRC Submission

045445-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.154) question?

Stock #

R7359 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

140641017-140652313 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 140651197 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 926 (H926R)

Ref Sequence

ENSEMBL: ENSMUSP00000039758 (fasta)

Gene Model

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

AlphaFold

Q766D5

Predicted Effect

probably damaging
Transcript: ENSMUST00000048002
AA Change: H926R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000039758
Gene: ENSMUSG00000055629
AA Change: H926R

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

probably benign
Transcript: ENSMUST00000210517

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.8%

Validation Efficiency

99% (87/88)

Allele List at MGI

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

Other mutations in this stock

Total: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,236,348 (GRCm39)	V1233A	possibly damaging	Het
Abcc9	G	A	6: 142,617,408 (GRCm39)	T552I	probably damaging	Het
Adgrf4	T	C	17: 42,978,003 (GRCm39)	I447V	possibly damaging	Het
Akirin2	T	A	4: 34,565,944 (GRCm39)	D178E	probably damaging	Het
Arhgap12	T	C	18: 6,065,709 (GRCm39)	E359G	possibly damaging	Het
Arhgef5	A	C	6: 43,257,216 (GRCm39)	T1256P	probably damaging	Het
Avpr1a	A	C	10: 122,285,283 (GRCm39)	I192L	possibly damaging	Het
Bean1	CT	C	8: 104,908,664 (GRCm39)		probably null	Het
Ccdc68	C	T	18: 70,089,123 (GRCm39)	A222V	probably benign	Het
Cdc23	T	C	18: 34,774,394 (GRCm39)	Y295C	probably benign	Het
Ceacam10	T	C	7: 24,480,432 (GRCm39)	Y188H	unknown	Het
Cfap57	T	A	4: 118,456,162 (GRCm39)	T511S	probably benign	Het
Cftr	T	C	6: 18,221,623 (GRCm39)	V245A	probably benign	Het
Cit	A	G	5: 116,064,633 (GRCm39)	D505G	probably damaging	Het
Cmah	T	G	13: 24,652,539 (GRCm39)	N556K	probably benign	Het
Cspg4b	T	C	13: 113,478,964 (GRCm39)	S1503P		Het
D430041D05Rik	C	A	2: 104,044,482 (GRCm39)	D839Y	probably damaging	Het
Dek	T	C	13: 47,259,065 (GRCm39)	D47G	unknown	Het
Des	C	T	1: 75,337,596 (GRCm39)	R179C	probably damaging	Het
Desi2	A	G	1: 178,015,509 (GRCm39)	N10D	probably benign	Het
Dlg5	T	C	14: 24,214,615 (GRCm39)	N679S	probably damaging	Het
Dnajc24	T	C	2: 105,832,293 (GRCm39)	Y30C	probably damaging	Het
Dock10	T	A	1: 80,687,065 (GRCm39)	H34L	probably benign	Het
Dock5	A	G	14: 68,003,337 (GRCm39)	V1586A	probably benign	Het
Dpy19l4	A	G	4: 11,273,125 (GRCm39)	V576A	probably benign	Het
Dusp6	A	G	10: 99,099,927 (GRCm39)	E125G	probably benign	Het
Dync1h1	T	C	12: 110,591,036 (GRCm39)	Y1035H	probably benign	Het
Dysf	G	A	6: 84,172,306 (GRCm39)		probably null	Het
En1	A	G	1: 120,534,817 (GRCm39)	K369E	unknown	Het
F2r	A	G	13: 95,741,194 (GRCm39)	Y114H	probably damaging	Het
Fam184a	T	C	10: 53,575,318 (GRCm39)	Y97C	probably damaging	Het
Fggy	T	C	4: 95,657,717 (GRCm39)	V286A	probably benign	Het
Flot2	T	C	11: 77,949,383 (GRCm39)	I322T	probably benign	Het
Fndc1	A	T	17: 8,032,318 (GRCm39)		probably null	Het
Frs3	A	G	17: 48,010,450 (GRCm39)	D28G	probably damaging	Het
Gimap3	C	T	6: 48,742,280 (GRCm39)	D217N	probably benign	Het
Gm128	A	G	3: 95,147,934 (GRCm39)	V120A	probably benign	Het
Gm17190	T	C	13: 96,218,970 (GRCm39)	V102A	probably damaging	Het
Gm17268	A	G	11: 81,919,057 (GRCm39)	V20A	unknown	Het
Grsf1	A	T	5: 88,813,423 (GRCm39)		probably null	Het
Hmcn2	A	T	2: 31,278,395 (GRCm39)	Y1699F	probably benign	Het
Hnmt	T	A	2: 23,938,731 (GRCm39)	M36L	probably benign	Het
Hoxd1	C	A	2: 74,594,447 (GRCm39)	T234K	probably damaging	Het
Hydin	C	G	8: 111,232,733 (GRCm39)	S1679R	probably damaging	Het
Jag1	T	C	2: 136,926,226 (GRCm39)	R1059G	probably benign	Het
Kbtbd11	T	C	8: 15,078,858 (GRCm39)	W486R	probably damaging	Het
Kcnh6	A	G	11: 105,909,789 (GRCm39)	D438G	possibly damaging	Het
Lgals4	T	G	7: 28,540,724 (GRCm39)	F276V	probably benign	Het
Lrp6	G	T	6: 134,427,923 (GRCm39)	Y1556*	probably null	Het
Mpdz	G	A	4: 81,274,632 (GRCm39)	L855F	probably benign	Het
Muc16	A	T	9: 18,554,316 (GRCm39)	D3992E	unknown	Het
Npc1	T	C	18: 12,328,237 (GRCm39)	N1024S	probably benign	Het
Nsfl1c	A	G	2: 151,336,279 (GRCm39)	T18A	probably benign	Het
Or12e8	T	A	2: 87,188,555 (GRCm39)	L256I	possibly damaging	Het
Or12k5	A	T	2: 36,895,449 (GRCm39)	M59K	probably damaging	Het
Or2g7	G	A	17: 38,378,506 (GRCm39)	W148*	probably null	Het
Or8g31-ps1	T	C	9: 39,276,775 (GRCm39)	*307R	probably null	Het
Pcdh15	A	T	10: 74,420,048 (GRCm39)	K1235N	probably damaging	Het
Pcif1	A	G	2: 164,726,251 (GRCm39)	K51E	probably damaging	Het
Pde1b	G	A	15: 103,429,752 (GRCm39)	D82N	probably damaging	Het
Phf23	T	A	11: 69,889,467 (GRCm39)	V167E	possibly damaging	Het
Pik3c2g	T	C	6: 139,913,620 (GRCm39)	V1006A	unknown	Het
Pira12	T	A	7: 3,901,103 (GRCm39)		probably benign	Het
Pkhd1l1	G	T	15: 44,452,882 (GRCm39)	V3936F	probably damaging	Het
Pnpla1	T	C	17: 29,100,159 (GRCm39)	V342A	probably benign	Het
Ppip5k1	T	C	2: 121,171,329 (GRCm39)	D620G	possibly damaging	Het
Ppl	A	G	16: 4,907,205 (GRCm39)	L1030P	possibly damaging	Het
Prelid1	A	T	13: 55,469,088 (GRCm39)		probably benign	Het
Racgap1	C	T	15: 99,529,081 (GRCm39)	S264N	probably benign	Het
Rdh13	T	C	7: 4,430,696 (GRCm39)	D289G	probably benign	Het
Rtp3	T	C	9: 110,815,364 (GRCm39)	I334V	probably benign	Het
Setd2	A	T	9: 110,392,012 (GRCm39)	D200V		Het
Simc1	A	G	13: 54,651,731 (GRCm39)	S15G	unknown	Het
Sirpb1c	A	T	3: 15,887,389 (GRCm39)	M150K	probably benign	Het
Smoc1	T	A	12: 81,197,475 (GRCm39)	D202E	probably damaging	Het
Spata31d1b	A	G	13: 59,860,304 (GRCm39)	Y59C	probably damaging	Het
Stard9	A	G	2: 120,528,761 (GRCm39)	T1673A	probably damaging	Het
Tbc1d31	T	A	15: 57,779,504 (GRCm39)	H72Q	probably benign	Het
Tgfbrap1	C	A	1: 43,114,693 (GRCm39)	V136L	probably damaging	Het
Top2b	A	G	14: 16,407,376 (GRCm38)	N720S	probably null	Het
Vmn1r11	T	C	6: 57,115,184 (GRCm39)	S283P	probably damaging	Het
Vmn1r19	A	G	6: 57,382,080 (GRCm39)	H211R	probably damaging	Het
Vmn2r44	A	T	7: 8,370,538 (GRCm39)	M836K	probably benign	Het
Vmn2r61	A	C	7: 41,915,407 (GRCm39)	H118P	probably benign	Het
Vps33a	A	G	5: 123,696,696 (GRCm39)	I319T	probably benign	Het
Vwf	T	A	6: 125,543,220 (GRCm39)	S151T		Het
Zfp423	T	C	8: 88,508,871 (GRCm39)	N491S	possibly damaging	Het
Zfp626	T	C	7: 27,507,660 (GRCm39)	F23S	probably damaging	Het

Other mutations in B4galnt4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01598:B4galnt4	APN	7	140,650,428 (GRCm39)	missense	probably benign	0.15
IGL02055:B4galnt4	APN	7	140,650,731 (GRCm39)	missense	probably damaging	1.00
IGL02248:B4galnt4	APN	7	140,647,721 (GRCm39)	unclassified	probably benign
IGL02955:B4galnt4	APN	7	140,644,591 (GRCm39)	missense	probably null	0.08
IGL03334:B4galnt4	APN	7	140,647,354 (GRCm39)	splice site	probably null
H8786:B4galnt4	UTSW	7	140,651,235 (GRCm39)	missense	probably damaging	0.99
R0520:B4galnt4	UTSW	7	140,647,286 (GRCm39)	nonsense	probably null
R0735:B4galnt4	UTSW	7	140,644,236 (GRCm39)	missense	probably benign	0.24
R1355:B4galnt4	UTSW	7	140,645,308 (GRCm39)	missense	probably damaging	1.00
R1864:B4galnt4	UTSW	7	140,650,446 (GRCm39)	missense	probably damaging	1.00
R1874:B4galnt4	UTSW	7	140,650,439 (GRCm39)	missense	probably damaging	1.00
R1928:B4galnt4	UTSW	7	140,648,061 (GRCm39)	nonsense	probably null
R1969:B4galnt4	UTSW	7	140,644,761 (GRCm39)	missense	probably benign	0.01
R3429:B4galnt4	UTSW	7	140,650,752 (GRCm39)	missense	probably damaging	1.00
R4239:B4galnt4	UTSW	7	140,641,239 (GRCm39)	missense	probably damaging	1.00
R4382:B4galnt4	UTSW	7	140,650,449 (GRCm39)	missense	probably damaging	0.99
R4517:B4galnt4	UTSW	7	140,647,635 (GRCm39)	missense	probably damaging	1.00
R4748:B4galnt4	UTSW	7	140,651,633 (GRCm39)	missense	probably damaging	1.00
R4827:B4galnt4	UTSW	7	140,648,392 (GRCm39)	missense	probably benign	0.00
R4831:B4galnt4	UTSW	7	140,644,470 (GRCm39)	critical splice donor site	probably null
R4831:B4galnt4	UTSW	7	140,647,634 (GRCm39)	missense	probably damaging	0.99
R4898:B4galnt4	UTSW	7	140,648,173 (GRCm39)	missense	probably benign	0.11
R5028:B4galnt4	UTSW	7	140,647,975 (GRCm39)	missense	probably benign	0.40
R5249:B4galnt4	UTSW	7	140,644,983 (GRCm39)	missense	probably damaging	1.00
R5267:B4galnt4	UTSW	7	140,650,524 (GRCm39)	missense	probably damaging	0.99
R5728:B4galnt4	UTSW	7	140,650,488 (GRCm39)	missense	probably benign	0.00
R5924:B4galnt4	UTSW	7	140,650,742 (GRCm39)	missense	probably damaging	1.00
R6063:B4galnt4	UTSW	7	140,644,643 (GRCm39)	missense	probably benign	0.08
R6311:B4galnt4	UTSW	7	140,648,572 (GRCm39)	missense	probably damaging	1.00
R6376:B4galnt4	UTSW	7	140,647,335 (GRCm39)	missense	possibly damaging	0.87
R6689:B4galnt4	UTSW	7	140,647,897 (GRCm39)	missense	probably benign	0.25
R6954:B4galnt4	UTSW	7	140,647,145 (GRCm39)	missense	probably benign	0.01
R6974:B4galnt4	UTSW	7	140,647,449 (GRCm39)	missense	possibly damaging	0.95
R7041:B4galnt4	UTSW	7	140,650,593 (GRCm39)	missense	probably damaging	1.00
R7092:B4galnt4	UTSW	7	140,648,549 (GRCm39)	missense	probably damaging	1.00
R7367:B4galnt4	UTSW	7	140,644,388 (GRCm39)	missense	probably damaging	1.00
R7409:B4galnt4	UTSW	7	140,646,916 (GRCm39)	splice site	probably null
R7519:B4galnt4	UTSW	7	140,644,257 (GRCm39)	missense	probably damaging	1.00
R7664:B4galnt4	UTSW	7	140,647,626 (GRCm39)	missense	probably damaging	1.00
R7679:B4galnt4	UTSW	7	140,647,678 (GRCm39)	missense	probably benign	0.28
R7782:B4galnt4	UTSW	7	140,644,988 (GRCm39)	missense	probably damaging	1.00
R8103:B4galnt4	UTSW	7	140,644,564 (GRCm39)	missense	possibly damaging	0.91
R8783:B4galnt4	UTSW	7	140,643,759 (GRCm39)	missense	probably damaging	1.00
R8796:B4galnt4	UTSW	7	140,647,488 (GRCm39)	missense	probably damaging	1.00
R8855:B4galnt4	UTSW	7	140,648,488 (GRCm39)	missense	possibly damaging	0.68
R9545:B4galnt4	UTSW	7	140,644,804 (GRCm39)	missense	probably benign	0.04
R9629:B4galnt4	UTSW	7	140,648,575 (GRCm39)	missense	probably damaging	1.00
R9680:B4galnt4	UTSW	7	140,647,957 (GRCm39)	missense	possibly damaging	0.94
R9708:B4galnt4	UTSW	7	140,647,657 (GRCm39)	missense	probably benign
RF007:B4galnt4	UTSW	7	140,650,609 (GRCm39)	critical splice donor site	probably null
YA93:B4galnt4	UTSW	7	140,647,324 (GRCm39)	missense	possibly damaging	0.77

Predicted Primers

PCR Primer
(F):5'- AAACTGGAGTGGATGCCGTG -3'
(R):5'- CCTAGGTTTATAGACGAACGGG -3'

Sequencing Primer
(F):5'- AGTGGATGCCGTGGAGGTC -3'
(R):5'- ATAGACGAACGGGTCTTATGTG -3'

Posted On

2019-09-13