Incidental Mutation 'R8717:Xab2'
ID |
669954 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Xab2
|
Ensembl Gene |
ENSMUSG00000019470 |
Gene Name |
XPA binding protein 2 |
Synonyms |
0610041O14Rik |
MMRRC Submission |
068570-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8717 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
3660089-3671311 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 3663845 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 358
(H358R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000019614
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019614]
[ENSMUST00000057028]
[ENSMUST00000159235]
[ENSMUST00000171962]
[ENSMUST00000207077]
[ENSMUST00000207432]
[ENSMUST00000207533]
[ENSMUST00000207712]
[ENSMUST00000207970]
[ENSMUST00000208240]
|
AlphaFold |
Q9DCD2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000019614
AA Change: H358R
PolyPhen 2
Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000019614 Gene: ENSMUSG00000019470 AA Change: H358R
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 |
probably benign
Transcript: ENSMUST00000057028
|
SMART Domains |
Protein: ENSMUSP00000058958 Gene: ENSMUSG00000044433
Domain | Start | End | E-Value | Type |
low complexity region
|
30 |
45 |
N/A |
INTRINSIC |
low complexity region
|
90 |
109 |
N/A |
INTRINSIC |
Pfam:CH
|
166 |
315 |
5.5e-27 |
PFAM |
Pfam:CAMSAP_CH
|
214 |
296 |
1.2e-29 |
PFAM |
low complexity region
|
359 |
373 |
N/A |
INTRINSIC |
coiled coil region
|
595 |
633 |
N/A |
INTRINSIC |
low complexity region
|
645 |
655 |
N/A |
INTRINSIC |
coiled coil region
|
696 |
727 |
N/A |
INTRINSIC |
low complexity region
|
749 |
779 |
N/A |
INTRINSIC |
low complexity region
|
828 |
837 |
N/A |
INTRINSIC |
low complexity region
|
866 |
881 |
N/A |
INTRINSIC |
coiled coil region
|
900 |
943 |
N/A |
INTRINSIC |
low complexity region
|
944 |
965 |
N/A |
INTRINSIC |
low complexity region
|
1002 |
1024 |
N/A |
INTRINSIC |
CAMSAP_CKK
|
1111 |
1240 |
1.29e-86 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159235
|
SMART Domains |
Protein: ENSMUSP00000124237 Gene: ENSMUSG00000019470
Domain | Start | End | E-Value | Type |
Blast:HAT
|
12 |
47 |
2e-13 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159548
|
SMART Domains |
Protein: ENSMUSP00000124202 Gene: ENSMUSG00000019470
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 |
probably benign
Transcript: ENSMUST00000171962
|
SMART Domains |
Protein: ENSMUSP00000125993 Gene: ENSMUSG00000044433
Domain | Start | End | E-Value | Type |
low complexity region
|
30 |
45 |
N/A |
INTRINSIC |
low complexity region
|
90 |
109 |
N/A |
INTRINSIC |
Pfam:CAMSAP_CH
|
214 |
296 |
6e-31 |
PFAM |
low complexity region
|
360 |
374 |
N/A |
INTRINSIC |
Pfam:CAMSAP_CC1
|
587 |
645 |
1.1e-27 |
PFAM |
low complexity region
|
646 |
656 |
N/A |
INTRINSIC |
coiled coil region
|
697 |
728 |
N/A |
INTRINSIC |
low complexity region
|
750 |
780 |
N/A |
INTRINSIC |
low complexity region
|
829 |
838 |
N/A |
INTRINSIC |
low complexity region
|
867 |
882 |
N/A |
INTRINSIC |
coiled coil region
|
901 |
944 |
N/A |
INTRINSIC |
low complexity region
|
945 |
966 |
N/A |
INTRINSIC |
low complexity region
|
1003 |
1025 |
N/A |
INTRINSIC |
CAMSAP_CKK
|
1112 |
1241 |
1.29e-86 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207077
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207152
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207432
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207533
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207712
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207970
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208240
|
Meta Mutation Damage Score |
0.1234 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
100% (60/60) |
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
A |
G |
6: 128,543,958 (GRCm39) |
F528L |
probably benign |
Het |
Aadacl3 |
T |
G |
4: 144,182,778 (GRCm39) |
D230A |
probably damaging |
Het |
Adgrf3 |
T |
A |
5: 30,403,579 (GRCm39) |
|
probably benign |
Het |
Agtr1a |
A |
C |
13: 30,565,357 (GRCm39) |
T141P |
probably damaging |
Het |
Ankfy1 |
T |
A |
11: 72,621,300 (GRCm39) |
D195E |
probably benign |
Het |
AY074887 |
G |
A |
9: 54,857,786 (GRCm39) |
T113I |
probably damaging |
Het |
Cacna1c |
G |
A |
6: 119,034,314 (GRCm39) |
A71V |
|
Het |
Ccdc88b |
T |
C |
19: 6,833,213 (GRCm39) |
E278G |
probably damaging |
Het |
Cntrl |
T |
A |
2: 35,003,351 (GRCm39) |
V78E |
probably benign |
Het |
Cyp2c67 |
T |
A |
19: 39,627,155 (GRCm39) |
Y225F |
probably benign |
Het |
Cyp2j13 |
T |
A |
4: 95,933,777 (GRCm39) |
H369L |
probably benign |
Het |
Dagla |
T |
C |
19: 10,225,587 (GRCm39) |
E859G |
probably benign |
Het |
Duox1 |
C |
A |
2: 122,168,152 (GRCm39) |
S1092R |
possibly damaging |
Het |
Elfn2 |
C |
A |
15: 78,556,561 (GRCm39) |
S662I |
probably benign |
Het |
Epor |
A |
T |
9: 21,870,741 (GRCm39) |
C380S |
probably benign |
Het |
Fsd2 |
T |
C |
7: 81,190,090 (GRCm39) |
E564G |
probably benign |
Het |
Hace1 |
C |
T |
10: 45,481,694 (GRCm39) |
T117I |
unknown |
Het |
Ift172 |
A |
G |
5: 31,412,985 (GRCm39) |
M1488T |
probably benign |
Het |
Insyn1 |
A |
G |
9: 58,406,623 (GRCm39) |
T178A |
probably damaging |
Het |
Kdm3b |
A |
G |
18: 34,952,840 (GRCm39) |
E1070G |
probably damaging |
Het |
Lrp6 |
A |
G |
6: 134,434,711 (GRCm39) |
F1331L |
probably benign |
Het |
Lrrc74a |
G |
A |
12: 86,783,253 (GRCm39) |
E33K |
probably damaging |
Het |
Magel2 |
T |
C |
7: 62,027,420 (GRCm39) |
M108T |
unknown |
Het |
Mief1 |
T |
C |
15: 80,132,584 (GRCm39) |
S127P |
probably benign |
Het |
Mprip |
T |
C |
11: 59,650,526 (GRCm39) |
V1410A |
probably benign |
Het |
Muc1 |
G |
A |
3: 89,138,821 (GRCm39) |
V477M |
possibly damaging |
Het |
Nat8f3 |
A |
T |
6: 85,738,687 (GRCm39) |
M25K |
possibly damaging |
Het |
Neb |
T |
G |
2: 52,073,781 (GRCm39) |
H5942P |
probably damaging |
Het |
Nf2 |
A |
T |
11: 4,766,099 (GRCm39) |
Y144N |
probably damaging |
Het |
Nipbl |
T |
A |
15: 8,368,225 (GRCm39) |
M1166L |
probably benign |
Het |
Npnt |
A |
T |
3: 132,614,136 (GRCm39) |
L206Q |
probably damaging |
Het |
Or10ak13 |
T |
C |
4: 118,638,996 (GRCm39) |
Y262C |
probably damaging |
Het |
Or4g7 |
A |
G |
2: 111,309,992 (GRCm39) |
T288A |
probably damaging |
Het |
Or6c65 |
T |
A |
10: 129,604,127 (GRCm39) |
I254N |
probably damaging |
Het |
Parg |
A |
G |
14: 31,932,492 (GRCm39) |
K444R |
probably benign |
Het |
Pcbp4 |
A |
T |
9: 106,337,202 (GRCm39) |
|
probably null |
Het |
Pcdhgb4 |
A |
G |
18: 37,853,847 (GRCm39) |
S81G |
probably benign |
Het |
Plat |
G |
T |
8: 23,262,248 (GRCm39) |
G91W |
probably damaging |
Het |
Plekho2 |
T |
C |
9: 65,464,058 (GRCm39) |
N264D |
probably benign |
Het |
Pmpca |
T |
A |
2: 26,281,893 (GRCm39) |
M182K |
probably damaging |
Het |
Prdm10 |
A |
G |
9: 31,252,695 (GRCm39) |
H476R |
probably benign |
Het |
Prxl2a |
G |
A |
14: 40,720,836 (GRCm39) |
P126S |
possibly damaging |
Het |
Rab7 |
T |
C |
6: 87,989,369 (GRCm39) |
S34G |
probably damaging |
Het |
Rbp3 |
G |
A |
14: 33,678,395 (GRCm39) |
R781H |
probably damaging |
Het |
Rngtt |
T |
A |
4: 33,368,695 (GRCm39) |
S409R |
probably damaging |
Het |
Ryr1 |
C |
A |
7: 28,751,753 (GRCm39) |
R3680L |
probably benign |
Het |
Sbno1 |
T |
C |
5: 124,512,618 (GRCm39) |
S1384G |
possibly damaging |
Het |
Shmt1 |
T |
C |
11: 60,685,763 (GRCm39) |
D271G |
probably benign |
Het |
Sin3a |
C |
T |
9: 57,034,510 (GRCm39) |
R1228W |
probably damaging |
Het |
Slc25a39 |
T |
C |
11: 102,294,620 (GRCm39) |
R294G |
probably benign |
Het |
Smcr8 |
T |
A |
11: 60,670,254 (GRCm39) |
S467R |
probably damaging |
Het |
Spaca7 |
A |
G |
8: 12,636,480 (GRCm39) |
Y102C |
probably damaging |
Het |
Tacr1 |
A |
G |
6: 82,380,706 (GRCm39) |
Y39C |
probably damaging |
Het |
Tenm3 |
G |
A |
8: 48,752,680 (GRCm39) |
S894L |
possibly damaging |
Het |
Tmem115 |
T |
A |
9: 107,415,132 (GRCm39) |
M307K |
possibly damaging |
Het |
Tnn |
A |
G |
1: 159,943,846 (GRCm39) |
V989A |
possibly damaging |
Het |
Trabd2b |
T |
A |
4: 114,460,186 (GRCm39) |
N441K |
probably damaging |
Het |
Ttll1 |
T |
C |
15: 83,373,709 (GRCm39) |
K368R |
probably benign |
Het |
Tubgcp2 |
C |
T |
7: 139,576,705 (GRCm39) |
V858I |
probably benign |
Het |
Ufsp2 |
G |
T |
8: 46,436,614 (GRCm39) |
V122L |
probably benign |
Het |
Wdr26 |
A |
G |
1: 181,011,913 (GRCm39) |
C470R |
possibly damaging |
Het |
Xrcc5 |
A |
G |
1: 72,422,905 (GRCm39) |
I697V |
probably benign |
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 |
R3767:Xab2
|
UTSW |
8 |
3,669,053 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
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'- AAGGGGTCTACTGTTTGCAC -3'
(R):5'- CAGCGTGGCTCTTTAGGTCTAC -3'
Sequencing Primer
(F):5'- CAGCCTCTGTGTATGTGTTGATAATC -3'
(R):5'- AGGTCTACAACACTGGGCTTG -3'
|
Posted On |
2021-04-30 |