Incidental Mutation 'R7006:B4galnt1'
ID |
544725 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
B4galnt1
|
Ensembl Gene |
ENSMUSG00000006731 |
Gene Name |
beta-1,4-N-acetyl-galactosaminyl transferase 1 |
Synonyms |
beta1,4GalNAC-T, Gal-NAc-T, GalNAc-T, Galgt1, GalNAcT, Ggm2, GM2/GD2 synthase, Ggm-2, 4933429D13Rik |
MMRRC Submission |
045011-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7006 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
127001094-127008199 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 127005700 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 267
(L267P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000006914
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006914]
[ENSMUST00000095270]
[ENSMUST00000217678]
[ENSMUST00000222911]
|
AlphaFold |
Q09200 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000006914
AA Change: L267P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000006914 Gene: ENSMUSG00000006731 AA Change: L267P
Domain | Start | End | E-Value | Type |
transmembrane domain
|
7 |
24 |
N/A |
INTRINSIC |
low complexity region
|
191 |
202 |
N/A |
INTRINSIC |
Pfam:Glycos_transf_2
|
280 |
450 |
7e-19 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000095270
|
SMART Domains |
Protein: ENSMUSP00000092904 Gene: ENSMUSG00000040441
Domain | Start | End | E-Value | Type |
low complexity region
|
51 |
78 |
N/A |
INTRINSIC |
low complexity region
|
82 |
97 |
N/A |
INTRINSIC |
Pfam:Sulfate_transp
|
105 |
497 |
5.5e-103 |
PFAM |
low complexity region
|
512 |
522 |
N/A |
INTRINSIC |
Pfam:STAS
|
549 |
664 |
3.3e-19 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000217678
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222911
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] GM2 and GD2 gangliosides are sialic acid-containing glycosphingolipids. GalNAc-T is the enzyme involved in the biosynthesis of G(M2) and G(D2) glycosphingolipids. GalNAc-T catalyzes the transfer of GalNAc into G(M3) and G(D3) by a beta-1,4 linkage, resulting in the synthesis of G(M2) and G(D2), respectively. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2013] PHENOTYPE: Mice homozygous for one knock-out allele lack all complex gangliosides but show normal brain histology and gross behavior with only subtle defects in neural conduction velocities. Mice homozygous for another knock-out allele exhibit male infertility due to degeneration of the seminiferous tubules. [provided by MGI curators]
|
Allele List at MGI |
All alleles(2) : Targeted, knock-out(2) |
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AAdacl4fm3 |
A |
G |
4: 144,447,853 (GRCm39) |
V41A |
probably benign |
Het |
Adcy2 |
G |
A |
13: 69,036,139 (GRCm39) |
T174M |
probably damaging |
Het |
Ankfy1 |
T |
A |
11: 72,631,290 (GRCm39) |
I412N |
probably benign |
Het |
AW146154 |
T |
C |
7: 41,130,648 (GRCm39) |
E156G |
possibly damaging |
Het |
Bod1l |
T |
C |
5: 41,989,895 (GRCm39) |
E276G |
probably damaging |
Het |
Ccdc187 |
T |
C |
2: 26,171,102 (GRCm39) |
T459A |
probably benign |
Het |
Ccdc196 |
T |
A |
12: 78,255,702 (GRCm39) |
*177R |
probably null |
Het |
Cep72 |
G |
A |
13: 74,198,427 (GRCm39) |
Q311* |
probably null |
Het |
Cir1 |
T |
C |
2: 73,140,834 (GRCm39) |
Q45R |
probably damaging |
Het |
Ciz1 |
T |
C |
2: 32,261,127 (GRCm39) |
|
probably null |
Het |
Crtap |
G |
T |
9: 114,215,391 (GRCm39) |
A166E |
probably damaging |
Het |
Dipk1a |
A |
G |
5: 108,058,027 (GRCm39) |
V132A |
probably benign |
Het |
Dmp1 |
A |
G |
5: 104,360,188 (GRCm39) |
D288G |
probably benign |
Het |
Fhad1 |
CGG |
CG |
4: 141,645,602 (GRCm39) |
|
probably null |
Het |
Fmnl2 |
C |
A |
2: 52,998,266 (GRCm39) |
Q544K |
probably benign |
Het |
Gpsm1 |
T |
C |
2: 26,212,572 (GRCm39) |
L72P |
probably damaging |
Het |
Gys1 |
G |
A |
7: 45,089,437 (GRCm39) |
A199T |
probably damaging |
Het |
Kcnq3 |
A |
C |
15: 65,892,165 (GRCm39) |
Y403* |
probably null |
Het |
Kcp |
A |
C |
6: 29,499,169 (GRCm39) |
Y298D |
probably damaging |
Het |
Kif5c |
T |
C |
2: 49,625,526 (GRCm39) |
S599P |
probably damaging |
Het |
Krt20 |
A |
T |
11: 99,328,587 (GRCm39) |
Y113N |
probably benign |
Het |
Mcm8 |
T |
G |
2: 132,665,181 (GRCm39) |
V191G |
probably damaging |
Het |
Msr1 |
T |
A |
8: 40,042,423 (GRCm39) |
D384V |
probably damaging |
Het |
Mtpap |
A |
C |
18: 4,380,873 (GRCm39) |
S184R |
possibly damaging |
Het |
Npc1l1 |
G |
A |
11: 6,167,731 (GRCm39) |
T1020M |
probably benign |
Het |
Nphp4 |
A |
G |
4: 152,573,259 (GRCm39) |
T66A |
probably benign |
Het |
Or1o3 |
T |
A |
17: 37,573,625 (GRCm39) |
*310L |
probably null |
Het |
Or4f14 |
C |
A |
2: 111,742,601 (GRCm39) |
V225L |
probably benign |
Het |
Or8h10 |
G |
A |
2: 86,808,303 (GRCm39) |
T279I |
probably damaging |
Het |
Or8k18 |
T |
A |
2: 86,085,572 (GRCm39) |
Q155L |
probably benign |
Het |
Phf11d |
G |
T |
14: 59,590,823 (GRCm39) |
T178K |
probably benign |
Het |
Ppm1d |
A |
G |
11: 85,227,977 (GRCm39) |
K298E |
possibly damaging |
Het |
Rab2b |
A |
T |
14: 52,503,690 (GRCm39) |
I144K |
probably benign |
Het |
Stoml1 |
A |
G |
9: 58,167,523 (GRCm39) |
D5G |
probably damaging |
Het |
Styxl2 |
T |
C |
1: 165,926,663 (GRCm39) |
N983S |
probably benign |
Het |
Tanc1 |
T |
C |
2: 59,626,188 (GRCm39) |
V515A |
probably damaging |
Het |
Tas1r3 |
A |
G |
4: 155,947,361 (GRCm39) |
V108A |
possibly damaging |
Het |
Tifab |
T |
C |
13: 56,324,059 (GRCm39) |
Y128C |
probably benign |
Het |
Tmc6 |
G |
T |
11: 117,665,083 (GRCm39) |
R397S |
probably damaging |
Het |
Tnpo3 |
C |
T |
6: 29,589,162 (GRCm39) |
A63T |
probably damaging |
Het |
Trgc4 |
T |
A |
13: 19,528,995 (GRCm39) |
|
probably benign |
Het |
Usp16 |
G |
T |
16: 87,268,724 (GRCm39) |
C284F |
probably damaging |
Het |
Wipf1 |
T |
C |
2: 73,267,441 (GRCm39) |
D319G |
probably damaging |
Het |
Xpnpep3 |
T |
A |
15: 81,326,649 (GRCm39) |
W347R |
probably damaging |
Het |
Zfp180 |
G |
T |
7: 23,804,537 (GRCm39) |
E319* |
probably null |
Het |
|
Other mutations in B4galnt1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00858:B4galnt1
|
APN |
10 |
127,003,633 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01087:B4galnt1
|
APN |
10 |
127,002,060 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01301:B4galnt1
|
APN |
10 |
127,005,648 (GRCm39) |
missense |
possibly damaging |
0.56 |
IGL01924:B4galnt1
|
APN |
10 |
127,002,630 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02996:B4galnt1
|
APN |
10 |
127,002,872 (GRCm39) |
missense |
probably damaging |
1.00 |
Hypokalemic
|
UTSW |
10 |
127,007,662 (GRCm39) |
splice site |
probably null |
|
ANU18:B4galnt1
|
UTSW |
10 |
127,005,648 (GRCm39) |
missense |
possibly damaging |
0.56 |
R0233:B4galnt1
|
UTSW |
10 |
127,006,780 (GRCm39) |
unclassified |
probably benign |
|
R4646:B4galnt1
|
UTSW |
10 |
127,003,705 (GRCm39) |
missense |
probably damaging |
0.99 |
R4702:B4galnt1
|
UTSW |
10 |
127,003,394 (GRCm39) |
missense |
possibly damaging |
0.90 |
R4703:B4galnt1
|
UTSW |
10 |
127,003,394 (GRCm39) |
missense |
possibly damaging |
0.90 |
R4705:B4galnt1
|
UTSW |
10 |
127,003,394 (GRCm39) |
missense |
possibly damaging |
0.90 |
R4708:B4galnt1
|
UTSW |
10 |
127,005,684 (GRCm39) |
missense |
probably damaging |
1.00 |
R5377:B4galnt1
|
UTSW |
10 |
127,007,691 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6644:B4galnt1
|
UTSW |
10 |
127,007,662 (GRCm39) |
splice site |
probably null |
|
R7278:B4galnt1
|
UTSW |
10 |
127,003,657 (GRCm39) |
missense |
probably benign |
0.01 |
R7396:B4galnt1
|
UTSW |
10 |
127,007,485 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7886:B4galnt1
|
UTSW |
10 |
127,002,923 (GRCm39) |
missense |
probably damaging |
0.99 |
R7935:B4galnt1
|
UTSW |
10 |
127,007,490 (GRCm39) |
missense |
probably damaging |
1.00 |
R8738:B4galnt1
|
UTSW |
10 |
127,007,584 (GRCm39) |
missense |
probably benign |
0.28 |
R9057:B4galnt1
|
UTSW |
10 |
127,006,999 (GRCm39) |
missense |
probably damaging |
1.00 |
R9520:B4galnt1
|
UTSW |
10 |
127,006,580 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Predicted Primers |
PCR Primer
(F):5'- GTCAGAACGGTATGATCTTGCC -3'
(R):5'- TGGCAATGGTAACCAGAGCAC -3'
Sequencing Primer
(F):5'- CCACCAAGGCCTGAAAAGG -3'
(R):5'- ACCAGAGCACTGATGTTGTACTCG -3'
|
Posted On |
2019-05-13 |