Incidental Mutation 'R3767:Xab2'
ID |
273057 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Xab2
|
Ensembl Gene |
ENSMUSG00000019470 |
Gene Name |
XPA binding protein 2 |
Synonyms |
0610041O14Rik |
MMRRC Submission |
040744-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3767 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
3660089-3671311 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 3669053 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 31
(N31S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124237
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004749]
[ENSMUST00000019614]
[ENSMUST00000128566]
[ENSMUST00000133459]
[ENSMUST00000136105]
[ENSMUST00000142431]
[ENSMUST00000159235]
[ENSMUST00000208950]
[ENSMUST00000144977]
[ENSMUST00000207428]
[ENSMUST00000207389]
[ENSMUST00000156380]
|
AlphaFold |
Q9DCD2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000004749
|
SMART Domains |
Protein: ENSMUSP00000004749 Gene: ENSMUSG00000004630
Domain | Start | End | E-Value | Type |
GoLoco
|
26 |
48 |
4.47e-8 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000019614
AA Change: N31S
PolyPhen 2
Score 0.757 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000019614 Gene: ENSMUSG00000019470 AA Change: N31S
Domain | Start | End | E-Value | Type |
HAT
|
48 |
80 |
7.56e0 |
SMART |
HAT
|
93 |
122 |
1.92e2 |
SMART |
HAT
|
124 |
158 |
4.89e-2 |
SMART |
HAT
|
270 |
305 |
3.82e-4 |
SMART |
low complexity region
|
316 |
333 |
N/A |
INTRINSIC |
HAT
|
409 |
445 |
1.88e1 |
SMART |
HAT
|
447 |
496 |
2.32e2 |
SMART |
HAT
|
498 |
530 |
1.56e1 |
SMART |
HAT
|
532 |
566 |
5.84e0 |
SMART |
HAT
|
571 |
605 |
3.62e-5 |
SMART |
Blast:HAT
|
607 |
641 |
3e-14 |
BLAST |
Blast:HAT
|
643 |
677 |
2e-15 |
BLAST |
HAT
|
679 |
713 |
2.77e-1 |
SMART |
low complexity region
|
771 |
785 |
N/A |
INTRINSIC |
low complexity region
|
823 |
836 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122654
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000128566
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000133459
|
SMART Domains |
Protein: ENSMUSP00000122902 Gene: ENSMUSG00000004630
Domain | Start | End | E-Value | Type |
GoLoco
|
7 |
29 |
3.29e-6 |
SMART |
GoLoco
|
47 |
69 |
4.47e-8 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000136105
|
SMART Domains |
Protein: ENSMUSP00000121079 Gene: ENSMUSG00000004630
Domain | Start | End | E-Value | Type |
GoLoco
|
23 |
45 |
3.29e-6 |
SMART |
GoLoco
|
63 |
85 |
4.47e-8 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000142431
|
SMART Domains |
Protein: ENSMUSP00000121403 Gene: ENSMUSG00000004630
Domain | Start | End | E-Value | Type |
GoLoco
|
26 |
48 |
4.47e-8 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000159235
AA Change: N31S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000124237 Gene: ENSMUSG00000019470 AA Change: N31S
Domain | Start | End | E-Value | Type |
Blast:HAT
|
12 |
47 |
2e-13 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159909
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163038
|
Predicted Effect |
unknown
Transcript: ENSMUST00000159548
AA Change: N28S
|
SMART Domains |
Protein: ENSMUSP00000124202 Gene: ENSMUSG00000019470 AA Change: N28S
Domain | Start | End | E-Value | Type |
Blast:HAT
|
10 |
44 |
4e-12 |
BLAST |
HAT
|
46 |
78 |
7.56e0 |
SMART |
HAT
|
91 |
120 |
1.92e2 |
SMART |
HAT
|
122 |
156 |
4.89e-2 |
SMART |
Blast:HAT
|
157 |
190 |
4e-12 |
BLAST |
Pfam:TPR_2
|
243 |
272 |
2.2e-6 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145855
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207257
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208185
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208950
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000144977
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207428
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207389
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000156380
|
SMART Domains |
Protein: ENSMUSP00000137626 Gene: ENSMUSG00000087687
Domain | Start | End | E-Value | Type |
Pfam:DUF2346
|
1 |
72 |
2.2e-31 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Homozygous null embryos die by the blastocyst stage (E3.5) and some eight-cell stage embryos do not undergo compaction. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adipoq |
T |
A |
16: 22,975,938 (GRCm39) |
V134E |
possibly damaging |
Het |
Agmat |
A |
G |
4: 141,483,273 (GRCm39) |
T236A |
probably benign |
Het |
Anxa9 |
T |
C |
3: 95,208,425 (GRCm39) |
N197S |
probably benign |
Het |
Arhgap23 |
A |
T |
11: 97,366,932 (GRCm39) |
D1071V |
probably damaging |
Het |
Axdnd1 |
G |
A |
1: 156,208,428 (GRCm39) |
T470M |
probably damaging |
Het |
C3 |
C |
T |
17: 57,512,303 (GRCm39) |
D1542N |
possibly damaging |
Het |
Cdh3 |
A |
T |
8: 107,263,606 (GRCm39) |
|
probably null |
Het |
Cep85l |
A |
T |
10: 53,167,906 (GRCm39) |
I624K |
probably benign |
Het |
Cplx4 |
T |
C |
18: 66,102,998 (GRCm39) |
T41A |
probably benign |
Het |
Dchs1 |
A |
T |
7: 105,406,292 (GRCm39) |
D2313E |
possibly damaging |
Het |
Dock7 |
T |
C |
4: 98,859,066 (GRCm39) |
T1409A |
probably benign |
Het |
Exo1 |
C |
T |
1: 175,714,312 (GRCm39) |
P73L |
probably damaging |
Het |
Fgfrl1 |
C |
A |
5: 108,853,242 (GRCm39) |
H197Q |
possibly damaging |
Het |
Fsbp |
G |
A |
4: 11,583,706 (GRCm39) |
G135D |
probably damaging |
Het |
Herc3 |
G |
A |
6: 58,839,973 (GRCm39) |
R362H |
probably benign |
Het |
Herc3 |
T |
C |
6: 58,853,587 (GRCm39) |
F583L |
probably benign |
Het |
Ifna7 |
T |
C |
4: 88,734,964 (GRCm39) |
V167A |
probably damaging |
Het |
Ighv1-54 |
A |
G |
12: 115,157,596 (GRCm39) |
V17A |
possibly damaging |
Het |
Kcnh5 |
A |
G |
12: 75,134,350 (GRCm39) |
Y400H |
possibly damaging |
Het |
Kcnk16 |
T |
A |
14: 20,319,230 (GRCm39) |
M1L |
possibly damaging |
Het |
Kctd19 |
T |
C |
8: 106,123,112 (GRCm39) |
T101A |
probably benign |
Het |
Klf3 |
A |
G |
5: 64,984,560 (GRCm39) |
|
probably null |
Het |
Krtap12-1 |
G |
T |
10: 77,556,729 (GRCm39) |
V91L |
probably benign |
Het |
Lonp1 |
T |
C |
17: 56,928,952 (GRCm39) |
E270G |
possibly damaging |
Het |
Mgl2 |
T |
C |
11: 70,026,659 (GRCm39) |
L128P |
probably damaging |
Het |
Mrc1 |
A |
G |
2: 14,323,981 (GRCm39) |
Y1106C |
probably damaging |
Het |
Mybpc1 |
G |
T |
10: 88,406,521 (GRCm39) |
|
probably null |
Het |
Mypn |
C |
A |
10: 62,961,486 (GRCm39) |
L1035F |
possibly damaging |
Het |
Neurl1a |
T |
C |
19: 47,228,328 (GRCm39) |
L58P |
probably damaging |
Het |
Nlrp4e |
G |
T |
7: 23,039,988 (GRCm39) |
L770F |
probably damaging |
Het |
Npas3 |
A |
G |
12: 54,115,857 (GRCm39) |
*895W |
probably null |
Het |
Nphs2 |
T |
C |
1: 156,140,608 (GRCm39) |
I115T |
probably damaging |
Het |
Or1ad6 |
A |
G |
11: 50,860,385 (GRCm39) |
D180G |
probably damaging |
Het |
Or8g22 |
T |
A |
9: 38,958,707 (GRCm39) |
H47L |
unknown |
Het |
Patj |
A |
T |
4: 98,569,456 (GRCm39) |
K1128* |
probably null |
Het |
Pla2g5 |
C |
G |
4: 138,528,746 (GRCm39) |
C70S |
probably damaging |
Het |
Pole4 |
G |
A |
6: 82,599,095 (GRCm39) |
R119C |
possibly damaging |
Het |
Ppm1h |
G |
T |
10: 122,740,027 (GRCm39) |
L367F |
probably damaging |
Het |
Ppp1r13b |
G |
T |
12: 111,812,851 (GRCm39) |
R123S |
probably damaging |
Het |
Ptpru |
C |
T |
4: 131,535,735 (GRCm39) |
C414Y |
probably damaging |
Het |
Pum2 |
T |
A |
12: 8,769,076 (GRCm39) |
Y323* |
probably null |
Het |
Rhot2 |
T |
C |
17: 26,059,521 (GRCm39) |
D407G |
probably benign |
Het |
Rreb1 |
C |
T |
13: 38,113,579 (GRCm39) |
R313W |
possibly damaging |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Scn11a |
T |
A |
9: 119,613,115 (GRCm39) |
D825V |
probably damaging |
Het |
Selenoi |
A |
G |
5: 30,461,187 (GRCm39) |
Y141C |
probably damaging |
Het |
Smcr8 |
A |
G |
11: 60,670,330 (GRCm39) |
T493A |
probably benign |
Het |
Tjp2 |
A |
T |
19: 24,078,190 (GRCm39) |
I901N |
probably benign |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Ttc23l |
T |
A |
15: 10,530,781 (GRCm39) |
Y277F |
possibly damaging |
Het |
Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
Wdr1 |
C |
T |
5: 38,697,882 (GRCm39) |
G228R |
probably damaging |
Het |
|
Other mutations in Xab2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00924:Xab2
|
APN |
8 |
3,661,723 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01308:Xab2
|
APN |
8 |
3,666,332 (GRCm39) |
missense |
probably benign |
0.07 |
IGL01324:Xab2
|
APN |
8 |
3,671,232 (GRCm39) |
missense |
possibly damaging |
0.80 |
IGL01340:Xab2
|
APN |
8 |
3,664,381 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01613:Xab2
|
APN |
8 |
3,660,880 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02622:Xab2
|
APN |
8 |
3,661,699 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02809:Xab2
|
APN |
8 |
3,660,175 (GRCm39) |
missense |
probably benign |
0.00 |
R0066:Xab2
|
UTSW |
8 |
3,663,880 (GRCm39) |
missense |
probably damaging |
1.00 |
R0066:Xab2
|
UTSW |
8 |
3,663,880 (GRCm39) |
missense |
probably damaging |
1.00 |
R0544:Xab2
|
UTSW |
8 |
3,660,994 (GRCm39) |
missense |
probably damaging |
1.00 |
R0607:Xab2
|
UTSW |
8 |
3,663,605 (GRCm39) |
missense |
probably benign |
0.05 |
R0735:Xab2
|
UTSW |
8 |
3,663,649 (GRCm39) |
missense |
possibly damaging |
0.50 |
R0943:Xab2
|
UTSW |
8 |
3,663,667 (GRCm39) |
missense |
probably benign |
0.00 |
R1507:Xab2
|
UTSW |
8 |
3,666,031 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1664:Xab2
|
UTSW |
8 |
3,669,068 (GRCm39) |
splice site |
probably null |
|
R1954:Xab2
|
UTSW |
8 |
3,666,094 (GRCm39) |
missense |
probably damaging |
0.96 |
R1955:Xab2
|
UTSW |
8 |
3,666,094 (GRCm39) |
missense |
probably damaging |
0.96 |
R4399:Xab2
|
UTSW |
8 |
3,664,244 (GRCm39) |
critical splice donor site |
probably null |
|
R4421:Xab2
|
UTSW |
8 |
3,664,244 (GRCm39) |
critical splice donor site |
probably null |
|
R4440:Xab2
|
UTSW |
8 |
3,666,353 (GRCm39) |
missense |
probably benign |
0.01 |
R4553:Xab2
|
UTSW |
8 |
3,661,015 (GRCm39) |
missense |
probably benign |
0.00 |
R4580:Xab2
|
UTSW |
8 |
3,660,162 (GRCm39) |
missense |
probably damaging |
1.00 |
R4608:Xab2
|
UTSW |
8 |
3,668,105 (GRCm39) |
missense |
probably benign |
0.23 |
R4707:Xab2
|
UTSW |
8 |
3,668,117 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5522:Xab2
|
UTSW |
8 |
3,661,718 (GRCm39) |
missense |
probably benign |
0.06 |
R6063:Xab2
|
UTSW |
8 |
3,663,051 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6273:Xab2
|
UTSW |
8 |
3,661,822 (GRCm39) |
missense |
probably damaging |
1.00 |
R6487:Xab2
|
UTSW |
8 |
3,663,879 (GRCm39) |
missense |
possibly damaging |
0.75 |
R7140:Xab2
|
UTSW |
8 |
3,668,117 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7648:Xab2
|
UTSW |
8 |
3,660,638 (GRCm39) |
missense |
probably benign |
0.00 |
R7767:Xab2
|
UTSW |
8 |
3,669,018 (GRCm39) |
missense |
probably benign |
0.08 |
R7992:Xab2
|
UTSW |
8 |
3,668,622 (GRCm39) |
missense |
possibly damaging |
0.81 |
R8116:Xab2
|
UTSW |
8 |
3,663,830 (GRCm39) |
missense |
probably damaging |
1.00 |
R8193:Xab2
|
UTSW |
8 |
3,663,389 (GRCm39) |
missense |
probably benign |
|
R8717:Xab2
|
UTSW |
8 |
3,663,845 (GRCm39) |
missense |
probably benign |
0.14 |
R8759:Xab2
|
UTSW |
8 |
3,661,672 (GRCm39) |
missense |
probably benign |
|
R8840:Xab2
|
UTSW |
8 |
3,663,254 (GRCm39) |
missense |
probably benign |
0.18 |
R8952:Xab2
|
UTSW |
8 |
3,663,875 (GRCm39) |
missense |
probably damaging |
1.00 |
R9044:Xab2
|
UTSW |
8 |
3,668,641 (GRCm39) |
missense |
probably benign |
0.21 |
R9287:Xab2
|
UTSW |
8 |
3,663,000 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9596:Xab2
|
UTSW |
8 |
3,663,018 (GRCm39) |
missense |
probably damaging |
0.96 |
R9799:Xab2
|
UTSW |
8 |
3,668,182 (GRCm39) |
missense |
probably benign |
0.28 |
Z1176:Xab2
|
UTSW |
8 |
3,668,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TACACAGCATTCACCTGGGAC -3'
(R):5'- GATGGTGGGAGTATAGACTTGCAC -3'
Sequencing Primer
(F):5'- GACACACAGTCACTTGTATTGTG -3'
(R):5'- GGAGTATAGACTTGCACCACTGC -3'
|
Posted On |
2015-03-25 |