Incidental Mutation 'R6122:Galnt7'
ID |
485772 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Galnt7
|
Ensembl Gene |
ENSMUSG00000031608 |
Gene Name |
polypeptide N-acetylgalactosaminyltransferase 7 |
Synonyms |
ppGaNTase-T7 |
MMRRC Submission |
044269-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.830)
|
Stock # |
R6122 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
57976862-58106066 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 57979200 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 641
(D641G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105945
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034021]
[ENSMUST00000110316]
|
AlphaFold |
Q80VA0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000034021
AA Change: D641G
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000034021 Gene: ENSMUSG00000031608 AA Change: D641G
Domain | Start | End | E-Value | Type |
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
low complexity region
|
48 |
62 |
N/A |
INTRINSIC |
low complexity region
|
136 |
152 |
N/A |
INTRINSIC |
Pfam:Glycos_transf_2
|
210 |
399 |
3e-28 |
PFAM |
Pfam:Glyco_tranf_2_2
|
210 |
490 |
2e-7 |
PFAM |
Pfam:Glyco_transf_7C
|
375 |
445 |
1.8e-8 |
PFAM |
RICIN
|
531 |
652 |
3.39e-20 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000110316
AA Change: D641G
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000105945 Gene: ENSMUSG00000031608 AA Change: D641G
Domain | Start | End | E-Value | Type |
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
low complexity region
|
48 |
62 |
N/A |
INTRINSIC |
low complexity region
|
136 |
152 |
N/A |
INTRINSIC |
Pfam:Glycos_transf_2
|
210 |
399 |
8.2e-27 |
PFAM |
Pfam:Glyco_tranf_2_2
|
210 |
490 |
1.3e-7 |
PFAM |
Pfam:Glyco_transf_7C
|
369 |
445 |
9.3e-9 |
PFAM |
RICIN
|
531 |
652 |
3.39e-20 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139417
|
Meta Mutation Damage Score |
0.6734 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.8%
|
Validation Efficiency |
98% (57/58) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes GalNAc transferase 7, a member of the GalNAc-transferase family. The enzyme encoded by this gene controls the initiation step of mucin-type O-linked protein glycosylation and transfer of N-acetylgalactosamine to serine and threonine amino acid residues. This enzyme is a type II transmembrane protein and shares common sequence motifs with other family members. Unlike other family members, this enzyme shows exclusive specificity for partially GalNAc-glycosylated acceptor substrates and shows no activity with non-glycosylated peptides. This protein may function as a follow-up enzyme in the initiation step of O-glycosylation. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700034J05Rik |
T |
C |
6: 146,853,750 (GRCm39) |
*301W |
probably null |
Het |
Abat |
A |
G |
16: 8,423,414 (GRCm39) |
I236V |
probably benign |
Het |
Abca8a |
T |
C |
11: 109,961,249 (GRCm39) |
T558A |
probably benign |
Het |
Ace3 |
A |
C |
11: 105,885,764 (GRCm39) |
M57L |
probably benign |
Het |
Adgrg1 |
T |
C |
8: 95,729,129 (GRCm39) |
S18P |
probably benign |
Het |
Ahi1 |
A |
G |
10: 20,934,064 (GRCm39) |
D60G |
probably benign |
Het |
Ap4e1 |
T |
A |
2: 126,870,080 (GRCm39) |
|
probably null |
Het |
Arnt2 |
C |
A |
7: 84,010,773 (GRCm39) |
K34N |
probably damaging |
Het |
Ascc3 |
T |
A |
10: 50,494,021 (GRCm39) |
M152K |
probably benign |
Het |
AW551984 |
A |
T |
9: 39,505,051 (GRCm39) |
F480L |
probably benign |
Het |
Blvrb |
G |
A |
7: 27,158,773 (GRCm39) |
A58T |
possibly damaging |
Het |
Bpifa1 |
C |
T |
2: 153,985,892 (GRCm39) |
T69I |
probably benign |
Het |
Cacna1g |
T |
A |
11: 94,320,997 (GRCm39) |
M1366L |
probably benign |
Het |
Ccdc82 |
A |
G |
9: 13,266,880 (GRCm39) |
I361V |
probably benign |
Het |
Clca4b |
T |
A |
3: 144,631,927 (GRCm39) |
I193F |
possibly damaging |
Het |
Crb1 |
A |
T |
1: 139,176,686 (GRCm39) |
Y371* |
probably null |
Het |
Cul9 |
T |
C |
17: 46,832,854 (GRCm39) |
D1363G |
possibly damaging |
Het |
Cyp2j8 |
C |
T |
4: 96,332,877 (GRCm39) |
A490T |
probably benign |
Het |
D430041D05Rik |
A |
T |
2: 104,086,637 (GRCm39) |
S780T |
probably benign |
Het |
Fzd5 |
G |
T |
1: 64,774,815 (GRCm39) |
C315* |
probably null |
Het |
Gabrr1 |
T |
C |
4: 33,161,695 (GRCm39) |
S340P |
probably damaging |
Het |
Gm7133 |
A |
G |
1: 97,110,948 (GRCm39) |
|
noncoding transcript |
Het |
Heatr5b |
A |
G |
17: 79,120,602 (GRCm39) |
L774P |
possibly damaging |
Het |
Itch |
T |
A |
2: 155,015,985 (GRCm39) |
S157T |
probably benign |
Het |
Itgam |
A |
C |
7: 127,684,824 (GRCm39) |
D398A |
probably damaging |
Het |
Kalrn |
G |
T |
16: 33,805,561 (GRCm39) |
L2659M |
possibly damaging |
Het |
Kcnj14 |
C |
A |
7: 45,468,875 (GRCm39) |
R210L |
possibly damaging |
Het |
Kmt2d |
T |
C |
15: 98,758,573 (GRCm39) |
|
probably benign |
Het |
Krt1c |
G |
C |
15: 101,724,349 (GRCm39) |
T305S |
probably damaging |
Het |
Mcm3ap |
A |
G |
10: 76,342,441 (GRCm39) |
N1645D |
probably damaging |
Het |
Naf1 |
T |
A |
8: 67,336,096 (GRCm39) |
I341K |
probably damaging |
Het |
Nbea |
G |
T |
3: 55,937,317 (GRCm39) |
H765N |
probably damaging |
Het |
Ncapd3 |
A |
G |
9: 26,975,278 (GRCm39) |
I776V |
probably benign |
Het |
Neo1 |
A |
T |
9: 58,824,291 (GRCm39) |
D712E |
probably benign |
Het |
Neu1 |
G |
A |
17: 35,153,730 (GRCm39) |
V385I |
probably benign |
Het |
Or14j3 |
C |
A |
17: 37,900,817 (GRCm39) |
R142S |
probably benign |
Het |
Or51a6 |
C |
A |
7: 102,604,011 (GRCm39) |
G273C |
probably damaging |
Het |
Or51a6 |
A |
G |
7: 102,604,737 (GRCm39) |
Y24H |
probably benign |
Het |
Pgghg |
A |
C |
7: 140,523,308 (GRCm39) |
T196P |
possibly damaging |
Het |
Pira2 |
A |
T |
7: 3,845,445 (GRCm39) |
V313E |
probably damaging |
Het |
Pkd1l2 |
T |
C |
8: 117,809,107 (GRCm39) |
R28G |
probably benign |
Het |
Pkhd1l1 |
T |
C |
15: 44,421,336 (GRCm39) |
S3035P |
probably damaging |
Het |
Ppp1r9a |
T |
A |
6: 4,905,509 (GRCm39) |
N21K |
probably damaging |
Het |
Prune1 |
T |
C |
3: 95,169,554 (GRCm39) |
D216G |
probably benign |
Het |
Ptpn23 |
G |
T |
9: 110,216,893 (GRCm39) |
|
probably benign |
Het |
Ranbp2 |
T |
A |
10: 58,301,351 (GRCm39) |
M668K |
probably benign |
Het |
Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
Rpsa |
G |
T |
9: 119,960,102 (GRCm39) |
V222L |
probably benign |
Het |
Septin2 |
A |
G |
1: 93,425,098 (GRCm39) |
T45A |
probably damaging |
Het |
Slc12a8 |
A |
T |
16: 33,445,384 (GRCm39) |
D260V |
probably damaging |
Het |
Srrm2 |
G |
T |
17: 24,039,330 (GRCm39) |
M2087I |
possibly damaging |
Het |
Tg |
T |
C |
15: 66,700,306 (GRCm39) |
L88P |
probably damaging |
Het |
Tns1 |
A |
G |
1: 73,991,578 (GRCm39) |
|
probably null |
Het |
Topbp1 |
A |
T |
9: 103,224,160 (GRCm39) |
D1429V |
probably benign |
Het |
Tprg1 |
A |
G |
16: 25,241,151 (GRCm39) |
|
probably null |
Het |
Trit1 |
T |
C |
4: 122,933,261 (GRCm39) |
I66T |
possibly damaging |
Het |
Usf3 |
A |
T |
16: 44,037,670 (GRCm39) |
I717L |
probably damaging |
Het |
|
Other mutations in Galnt7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00157:Galnt7
|
APN |
8 |
57,993,073 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00538:Galnt7
|
APN |
8 |
58,005,556 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL00826:Galnt7
|
APN |
8 |
57,993,105 (GRCm39) |
nonsense |
probably null |
|
IGL00951:Galnt7
|
APN |
8 |
58,036,858 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL01662:Galnt7
|
APN |
8 |
57,984,769 (GRCm39) |
splice site |
probably benign |
|
IGL02280:Galnt7
|
APN |
8 |
57,989,824 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02832:Galnt7
|
APN |
8 |
58,005,531 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02936:Galnt7
|
APN |
8 |
58,037,248 (GRCm39) |
missense |
probably benign |
|
IGL03083:Galnt7
|
APN |
8 |
57,979,223 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03387:Galnt7
|
APN |
8 |
57,979,212 (GRCm39) |
missense |
probably benign |
0.01 |
R0400:Galnt7
|
UTSW |
8 |
58,037,023 (GRCm39) |
missense |
probably damaging |
0.99 |
R0553:Galnt7
|
UTSW |
8 |
58,005,464 (GRCm39) |
splice site |
probably benign |
|
R1463:Galnt7
|
UTSW |
8 |
58,105,892 (GRCm39) |
missense |
probably benign |
|
R1487:Galnt7
|
UTSW |
8 |
57,993,073 (GRCm39) |
missense |
probably damaging |
1.00 |
R1791:Galnt7
|
UTSW |
8 |
57,995,564 (GRCm39) |
missense |
probably benign |
0.05 |
R1817:Galnt7
|
UTSW |
8 |
57,991,212 (GRCm39) |
missense |
probably damaging |
1.00 |
R1962:Galnt7
|
UTSW |
8 |
57,985,748 (GRCm39) |
missense |
probably benign |
0.13 |
R3855:Galnt7
|
UTSW |
8 |
57,985,658 (GRCm39) |
splice site |
probably benign |
|
R3856:Galnt7
|
UTSW |
8 |
57,985,658 (GRCm39) |
splice site |
probably benign |
|
R4232:Galnt7
|
UTSW |
8 |
58,106,000 (GRCm39) |
missense |
probably benign |
|
R4396:Galnt7
|
UTSW |
8 |
57,991,215 (GRCm39) |
missense |
probably damaging |
1.00 |
R4426:Galnt7
|
UTSW |
8 |
58,005,606 (GRCm39) |
nonsense |
probably null |
|
R4610:Galnt7
|
UTSW |
8 |
57,998,803 (GRCm39) |
missense |
probably damaging |
0.99 |
R4745:Galnt7
|
UTSW |
8 |
57,995,761 (GRCm39) |
intron |
probably benign |
|
R4794:Galnt7
|
UTSW |
8 |
57,998,397 (GRCm39) |
missense |
probably damaging |
1.00 |
R5014:Galnt7
|
UTSW |
8 |
57,998,414 (GRCm39) |
missense |
probably damaging |
1.00 |
R5177:Galnt7
|
UTSW |
8 |
58,037,061 (GRCm39) |
missense |
possibly damaging |
0.87 |
R5682:Galnt7
|
UTSW |
8 |
58,036,967 (GRCm39) |
nonsense |
probably null |
|
R6276:Galnt7
|
UTSW |
8 |
57,989,612 (GRCm39) |
splice site |
probably null |
|
R6684:Galnt7
|
UTSW |
8 |
57,991,143 (GRCm39) |
missense |
probably benign |
0.16 |
R6752:Galnt7
|
UTSW |
8 |
58,105,985 (GRCm39) |
missense |
probably damaging |
1.00 |
R7464:Galnt7
|
UTSW |
8 |
58,037,054 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7491:Galnt7
|
UTSW |
8 |
58,005,552 (GRCm39) |
missense |
probably damaging |
0.97 |
R7547:Galnt7
|
UTSW |
8 |
58,036,996 (GRCm39) |
missense |
possibly damaging |
0.48 |
R8093:Galnt7
|
UTSW |
8 |
57,985,739 (GRCm39) |
missense |
probably benign |
0.00 |
R8221:Galnt7
|
UTSW |
8 |
58,005,600 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8248:Galnt7
|
UTSW |
8 |
57,991,222 (GRCm39) |
missense |
probably benign |
0.34 |
R8402:Galnt7
|
UTSW |
8 |
57,995,953 (GRCm39) |
missense |
probably damaging |
0.98 |
R8779:Galnt7
|
UTSW |
8 |
58,037,245 (GRCm39) |
missense |
probably benign |
|
R8894:Galnt7
|
UTSW |
8 |
57,979,176 (GRCm39) |
nonsense |
probably null |
|
R8974:Galnt7
|
UTSW |
8 |
58,105,934 (GRCm39) |
missense |
|
|
R9106:Galnt7
|
UTSW |
8 |
57,985,729 (GRCm39) |
missense |
probably damaging |
1.00 |
R9297:Galnt7
|
UTSW |
8 |
57,995,555 (GRCm39) |
missense |
probably damaging |
0.98 |
X0050:Galnt7
|
UTSW |
8 |
58,005,478 (GRCm39) |
frame shift |
probably null |
|
X0062:Galnt7
|
UTSW |
8 |
58,036,942 (GRCm39) |
missense |
probably benign |
0.04 |
|
Predicted Primers |
PCR Primer
(F):5'- CCTTCCAACTGATCAGAGAGGTTC -3'
(R):5'- TGGAATGTGATGCCCTCTTC -3'
Sequencing Primer
(F):5'- AACTGATCAGAGAGGTTCCAGGTTTG -3'
(R):5'- TGGGTCTGAAGAGTGCAATAGTGTAC -3'
|
Posted On |
2017-08-16 |