Mutagenetix > Incidental Mutation

Incidental Mutation 'R7715:B3gntl1'

594873

Institutional Source

Beutler Lab

Gene Symbol

B3gntl1

Ensembl Gene

ENSMUSG00000046605

Gene Name

UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1

Synonyms

6030413G23Rik

MMRRC Submission

045773-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.138) question?

Stock #

R7715 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

121507023-121563979 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121530622 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 150 (T150A)

Ref Sequence

ENSEMBL: ENSMUSP00000068590 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062654] [ENSMUST00000067399]

AlphaFold

Q3U129

Predicted Effect

probably damaging
Transcript: ENSMUST00000062654
AA Change: T150A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000049890
Gene: ENSMUSG00000046605
AA Change: T150A

Domain	Start	End	E-Value	Type
Pfam:Glyco_tranf_2_3	14	244	3e-13	PFAM
Pfam:Glycos_transf_2	17	189	2.2e-24	PFAM
Pfam:Glyco_tranf_2_2	17	237	9.5e-9	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000067399
AA Change: T150A

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000068590
Gene: ENSMUSG00000046605
AA Change: T150A

Domain	Start	End	E-Value	Type
Pfam:Glyco_tranf_2_3	14	245	1.4e-10	PFAM
Pfam:Glycos_transf_2	17	189	1.2e-23	PFAM
Pfam:Glyco_tranf_2_2	17	248	2.1e-8	PFAM

Meta Mutation Damage Score

0.2697

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

99% (67/68)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019A02Rik	A	G	1: 53,221,659 (GRCm39)	F57L	probably benign	Het
Agl	C	T	3: 116,551,905 (GRCm39)	R563Q		Het
Ahctf1	A	G	1: 179,598,413 (GRCm39)	M919T	probably benign	Het
Ano4	A	T	10: 88,831,173 (GRCm39)	N483K	probably damaging	Het
Armt1	A	G	10: 4,400,751 (GRCm39)	K166R	probably benign	Het
Asgr2	T	C	11: 69,987,721 (GRCm39)	V73A	probably benign	Het
Atp6v0a2	A	C	5: 124,791,262 (GRCm39)	T564P	probably damaging	Het
Bach1	A	G	16: 87,516,859 (GRCm39)	I467V	possibly damaging	Het
Bicd1	A	G	6: 149,414,471 (GRCm39)	K395E	probably benign	Het
Cadps	G	A	14: 12,457,762 (GRCm38)	P1040S	probably benign	Het
Calcoco2	TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	11: 95,990,862 (GRCm39)		probably null	Het
Canx	A	G	11: 50,201,631 (GRCm39)	S80P	probably benign	Het
Ccdc149	T	A	5: 52,561,533 (GRCm39)		probably null	Het
Cd34	A	T	1: 194,631,624 (GRCm39)	N87Y	probably damaging	Het
Cdh11	T	A	8: 103,391,346 (GRCm39)	I297F	possibly damaging	Het
Cfap251	A	G	5: 123,400,197 (GRCm39)	N439D	probably damaging	Het
Cip2a	A	T	16: 48,834,347 (GRCm39)	Q643L	probably damaging	Het
Col14a1	A	G	15: 55,351,379 (GRCm39)	I1569V	unknown	Het
Cxcr4	C	T	1: 128,517,479 (GRCm39)	V61M	probably damaging	Het
Cyp20a1	G	A	1: 60,411,764 (GRCm39)	V271M	probably benign	Het
Cyp2b23	T	C	7: 26,381,120 (GRCm39)	Y79C	probably benign	Het
Daam1	A	G	12: 72,035,675 (GRCm39)	K957E	probably benign	Het
Dip2c	A	G	13: 9,664,427 (GRCm39)	K947E	probably damaging	Het
Efcab12	T	C	6: 115,800,504 (GRCm39)	K173R	possibly damaging	Het
Emc1	C	T	4: 139,098,934 (GRCm39)	R806C	probably damaging	Het
Epg5	G	A	18: 78,011,801 (GRCm39)	R816Q	probably damaging	Het
Faf1	G	T	4: 109,568,011 (GRCm39)	D24Y	probably damaging	Het
Fchsd1	A	T	18: 38,099,695 (GRCm39)		probably null	Het
Foxp1	T	C	6: 98,922,621 (GRCm39)	T404A	unknown	Het
Fra10ac1	T	C	19: 38,178,286 (GRCm39)	E299G	probably damaging	Het
Gon4l	A	G	3: 88,815,313 (GRCm39)	T1959A	probably benign	Het
Gpam	A	C	19: 55,077,353 (GRCm39)	V146G	probably benign	Het
Hephl1	T	A	9: 14,972,081 (GRCm39)	D953V	probably benign	Het
Kcnc2	G	T	10: 112,107,845 (GRCm39)	E79*	probably null	Het
Kcnj12	T	A	11: 60,957,778 (GRCm39)		probably null	Het
Llgl2	A	T	11: 115,740,554 (GRCm39)	T417S	probably benign	Het
Lrrc17	A	T	5: 21,766,078 (GRCm39)	N187Y	probably damaging	Het
Macc1	C	T	12: 119,409,991 (GRCm39)	A253V	possibly damaging	Het
Mark1	A	G	1: 184,639,431 (GRCm39)	S529P	probably damaging	Het
Mfsd6l	T	C	11: 68,448,376 (GRCm39)	L409P	probably damaging	Het
Nek1	A	G	8: 61,459,794 (GRCm39)	E34G	probably damaging	Het
Nlrp3	T	A	11: 59,433,829 (GRCm39)		probably null	Het
Obsl1	A	T	1: 75,478,680 (GRCm39)	V686D	probably damaging	Het
Or2l5	C	T	16: 19,333,480 (GRCm39)	R302K	probably benign	Het
Or55b10	T	A	7: 102,143,668 (GRCm39)	M105L	possibly damaging	Het
Or7h8	G	A	9: 20,123,731 (GRCm39)	G29R	probably damaging	Het
Or7h8	G	A	9: 20,123,732 (GRCm39)	G29E	probably benign	Het
Or8c15	T	A	9: 38,120,775 (GRCm39)	M140K	probably benign	Het
Or8g18	A	T	9: 39,149,174 (GRCm39)	L182H	probably damaging	Het
Ostm1	G	A	10: 42,559,183 (GRCm39)	G148R	probably benign	Het
Oxsr1	A	G	9: 119,071,822 (GRCm39)	S470P	probably damaging	Het
Pacs1	C	T	19: 5,191,709 (GRCm39)	M709I	probably benign	Het
Pan2	A	G	10: 128,153,592 (GRCm39)	M963V	probably benign	Het
Pds5a	A	G	5: 65,795,904 (GRCm39)	L662P	possibly damaging	Het
Rsf1	GGCGGCGGC	GGCGGCGGCCGCGGCGGC	7: 97,229,119 (GRCm39)		probably benign	Het
Sh2b2	T	C	5: 136,247,889 (GRCm39)	N554S	probably benign	Het
Sh3gl2	T	A	4: 85,317,077 (GRCm39)		probably null	Het
Slc24a4	A	G	12: 102,185,219 (GRCm39)	M93V	possibly damaging	Het
Sohlh1	A	G	2: 25,734,640 (GRCm39)	S218P	possibly damaging	Het
Spast	T	A	17: 74,675,921 (GRCm39)	N321K	probably benign	Het
Srcap	T	G	7: 127,148,460 (GRCm39)	I1936S	probably damaging	Het
Themis	G	A	10: 28,739,305 (GRCm39)	V592I	probably benign	Het
Tnfrsf1a	C	T	6: 125,338,377 (GRCm39)	T296I	possibly damaging	Het
Ttk	A	G	9: 83,747,206 (GRCm39)	T682A	probably benign	Het
Virma	C	T	4: 11,549,682 (GRCm39)	R1807W	probably damaging	Het
Virma	A	G	4: 11,513,016 (GRCm39)		probably null	Het
Vmn2r101	T	A	17: 19,832,177 (GRCm39)	D724E	probably damaging	Het
Vmn2r11	A	G	5: 109,195,307 (GRCm39)	V673A	probably damaging	Het
Wbp4	C	T	14: 79,703,734 (GRCm39)	S271N	probably benign	Het

Other mutations in B3gntl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01573:B3gntl1	APN	11	121,561,789 (GRCm39)	missense	probably damaging	1.00
IGL01640:B3gntl1	APN	11	121,563,846 (GRCm39)	missense	probably benign
IGL02609:B3gntl1	APN	11	121,535,427 (GRCm39)	splice site	probably benign
R0370:B3gntl1	UTSW	11	121,514,980 (GRCm39)	missense	probably damaging	1.00
R0394:B3gntl1	UTSW	11	121,510,541 (GRCm39)	missense	probably damaging	1.00
R0469:B3gntl1	UTSW	11	121,563,851 (GRCm39)	missense	probably benign
R0520:B3gntl1	UTSW	11	121,514,314 (GRCm39)	missense	possibly damaging	0.89
R0541:B3gntl1	UTSW	11	121,535,430 (GRCm39)	splice site	probably benign
R1460:B3gntl1	UTSW	11	121,530,624 (GRCm39)	missense	probably damaging	1.00
R1600:B3gntl1	UTSW	11	121,521,662 (GRCm39)	missense	probably damaging	1.00
R1961:B3gntl1	UTSW	11	121,535,351 (GRCm39)	critical splice donor site	probably null
R4884:B3gntl1	UTSW	11	121,520,795 (GRCm39)	missense	possibly damaging	0.83
R5779:B3gntl1	UTSW	11	121,542,502 (GRCm39)	splice site	probably null
R7387:B3gntl1	UTSW	11	121,520,741 (GRCm39)	missense	possibly damaging	0.87
R7421:B3gntl1	UTSW	11	121,515,004 (GRCm39)	missense	probably benign	0.18
R7506:B3gntl1	UTSW	11	121,561,740 (GRCm39)	missense	probably damaging	1.00
R7654:B3gntl1	UTSW	11	121,542,439 (GRCm39)	missense	probably damaging	1.00
R8809:B3gntl1	UTSW	11	121,521,690 (GRCm39)	missense	possibly damaging	0.83
R9245:B3gntl1	UTSW	11	121,514,770 (GRCm39)	missense	possibly damaging	0.68
R9577:B3gntl1	UTSW	11	121,515,040 (GRCm39)	missense	probably benign	0.00
R9770:B3gntl1	UTSW	11	121,521,652 (GRCm39)	nonsense	probably null
Z1177:B3gntl1	UTSW	11	121,530,640 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TTGTCCTGACCCATCAAAGC -3'
(R):5'- TCTCATGTGTGCCTGGCATC -3'

Sequencing Primer
(F):5'- TGAGTATGCCCCAACTAGATACTGTC -3'
(R):5'- GTGCCTGGCATCCTGCTC -3'

Posted On

2019-11-12