Incidental Mutation 'R5973:Xaf1'
| ID |
471558 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Xaf1
|
| Ensembl Gene |
ENSMUSG00000040483 |
| Gene Name |
XIAP associated factor 1 |
| Synonyms |
|
| MMRRC Submission |
044156-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.096)
|
| Stock # |
R5973 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
72192455-72204559 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 72194256 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 46
(M46L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121483
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094041]
[ENSMUST00000140842]
[ENSMUST00000146233]
[ENSMUST00000151440]
|
| AlphaFold |
Q5NBU8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094041
AA Change: M46L
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140842
AA Change: M46L
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000121472
Gene: ENSMUSG00000040483
AA Change: M46L
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2LXW|A
|
133 |
175 |
7e-13 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142921
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000146233
AA Change: M46L
PolyPhen 2
Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000123011
Gene: ENSMUSG00000040483
AA Change: M46L
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2LXW|A
|
228 |
270 |
3e-12 |
PDB |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000151440
AA Change: M46L
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000121483
Gene: ENSMUSG00000040483
AA Change: M46L
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2LXW|A
|
133 |
165 |
7e-9 |
PDB |
|
low complexity region
|
194 |
205 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which binds to and counteracts the inhibitory effect of a member of the IAP (inhibitor of apoptosis) protein family. IAP proteins bind to and inhibit caspases which are activated during apoptosis. The proportion of IAPs and proteins which interfere with their activity, such as the encoded protein, affect the progress of the apoptosis signaling pathway. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
T |
A |
5: 114,364,928 (GRCm39) |
I1536N |
probably damaging |
Het |
| Actr1b |
A |
G |
1: 36,741,162 (GRCm39) |
S140P |
probably damaging |
Het |
| Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
| Anapc7 |
A |
T |
5: 122,566,366 (GRCm39) |
T92S |
probably benign |
Het |
| Ash2l |
G |
A |
8: 26,307,642 (GRCm39) |
T585M |
possibly damaging |
Het |
| Asxl1 |
T |
C |
2: 153,243,931 (GRCm39) |
F1495L |
probably damaging |
Het |
| Atp5pf |
T |
C |
16: 84,625,328 (GRCm39) |
|
probably null |
Het |
| Bcl2a1c |
A |
G |
9: 114,159,465 (GRCm39) |
N81S |
probably benign |
Het |
| Bfsp2 |
A |
C |
9: 103,309,856 (GRCm39) |
|
probably null |
Het |
| Casq1 |
A |
G |
1: 172,047,068 (GRCm39) |
Y64H |
probably damaging |
Het |
| Ceacam16 |
A |
G |
7: 19,590,262 (GRCm39) |
V227A |
probably damaging |
Het |
| Cers6 |
T |
A |
2: 68,898,969 (GRCm39) |
|
probably null |
Het |
| Chrnb1 |
A |
G |
11: 69,686,671 (GRCm39) |
|
probably benign |
Het |
| Clpb |
G |
A |
7: 101,313,204 (GRCm39) |
V63I |
probably benign |
Het |
| Dnah11 |
G |
T |
12: 118,074,687 (GRCm39) |
D1388E |
probably benign |
Het |
| Dst |
T |
C |
1: 34,195,938 (GRCm39) |
L405P |
probably damaging |
Het |
| Dstyk |
A |
G |
1: 132,362,149 (GRCm39) |
E193G |
probably damaging |
Het |
| Dusp2 |
A |
T |
2: 127,179,208 (GRCm39) |
S188C |
probably damaging |
Het |
| Ep400 |
T |
C |
5: 110,877,697 (GRCm39) |
I810V |
unknown |
Het |
| Faim2 |
C |
T |
15: 99,419,132 (GRCm39) |
G79D |
probably benign |
Het |
| Fpgt |
A |
T |
3: 154,793,040 (GRCm39) |
I329K |
probably damaging |
Het |
| Fut8 |
A |
G |
12: 77,411,771 (GRCm39) |
T78A |
probably benign |
Het |
| Gm15130 |
A |
G |
2: 110,965,714 (GRCm39) |
|
probably benign |
Het |
| Gm17087 |
A |
C |
17: 8,785,529 (GRCm39) |
I58R |
probably benign |
Het |
| Grk2 |
T |
C |
19: 4,337,925 (GRCm39) |
D485G |
possibly damaging |
Het |
| Hax1 |
GTCATCATCATCATCATC |
GTCATCATCATCATCATCATC |
3: 89,905,247 (GRCm39) |
|
probably benign |
Het |
| Hmcn1 |
A |
G |
1: 150,439,568 (GRCm39) |
S5539P |
probably damaging |
Het |
| Hmcn2 |
G |
A |
2: 31,310,335 (GRCm39) |
V3310M |
probably damaging |
Het |
| Impdh1 |
A |
T |
6: 29,207,161 (GRCm39) |
L61Q |
probably damaging |
Het |
| Inhbb |
A |
T |
1: 119,345,806 (GRCm39) |
V161D |
possibly damaging |
Het |
| Kansl2 |
C |
T |
15: 98,427,306 (GRCm39) |
V192M |
probably damaging |
Het |
| Krt1c |
T |
C |
15: 101,724,747 (GRCm39) |
K288E |
probably damaging |
Het |
| Lyar |
A |
G |
5: 38,385,290 (GRCm39) |
K110R |
probably damaging |
Het |
| Lyrm9 |
C |
A |
11: 78,726,961 (GRCm39) |
H35N |
probably damaging |
Het |
| Mab21l1 |
A |
G |
3: 55,690,533 (GRCm39) |
D40G |
probably benign |
Het |
| Maml2 |
A |
C |
9: 13,532,915 (GRCm39) |
|
probably benign |
Het |
| Mbd5 |
A |
G |
2: 49,162,401 (GRCm39) |
H69R |
probably benign |
Het |
| Morc2b |
G |
T |
17: 33,356,446 (GRCm39) |
A442E |
probably damaging |
Het |
| Moxd2 |
A |
T |
6: 40,855,744 (GRCm39) |
L615Q |
probably damaging |
Het |
| Msh2 |
G |
A |
17: 88,016,011 (GRCm39) |
G548S |
probably damaging |
Het |
| Napg |
G |
A |
18: 63,128,054 (GRCm39) |
S279N |
possibly damaging |
Het |
| Ncor1 |
A |
T |
11: 62,240,136 (GRCm39) |
|
probably null |
Het |
| Nkiras2 |
G |
T |
11: 100,516,866 (GRCm39) |
R128L |
probably damaging |
Het |
| Npy4r |
T |
C |
14: 33,868,664 (GRCm39) |
D208G |
probably benign |
Het |
| Or10ak11 |
C |
T |
4: 118,687,413 (GRCm39) |
V75I |
probably benign |
Het |
| Or52e2 |
A |
G |
7: 102,804,081 (GRCm39) |
V291A |
possibly damaging |
Het |
| Or8b42 |
G |
T |
9: 38,341,627 (GRCm39) |
L16F |
probably damaging |
Het |
| Pcdhgb2 |
A |
G |
18: 37,823,560 (GRCm39) |
T184A |
probably benign |
Het |
| Plxna4 |
T |
C |
6: 32,228,000 (GRCm39) |
|
probably null |
Het |
| Pnldc1 |
C |
T |
17: 13,113,260 (GRCm39) |
E328K |
probably benign |
Het |
| Pon1 |
T |
A |
6: 5,185,334 (GRCm39) |
L55F |
probably damaging |
Het |
| Pramel51 |
T |
C |
12: 88,142,683 (GRCm39) |
I312V |
probably benign |
Het |
| Prkci |
G |
T |
3: 31,092,605 (GRCm39) |
D296Y |
probably damaging |
Het |
| Prkd1 |
T |
C |
12: 50,435,038 (GRCm39) |
H563R |
probably damaging |
Het |
| Ptpru |
T |
C |
4: 131,546,236 (GRCm39) |
N266S |
probably benign |
Het |
| Rapgef6 |
A |
T |
11: 54,530,609 (GRCm39) |
I589F |
probably damaging |
Het |
| Rcan3 |
A |
T |
4: 135,145,853 (GRCm39) |
S127T |
probably benign |
Het |
| Sh3tc2 |
A |
G |
18: 62,110,975 (GRCm39) |
D277G |
probably benign |
Het |
| Sipa1l3 |
G |
A |
7: 29,098,949 (GRCm39) |
A440V |
probably benign |
Het |
| Slc13a2 |
A |
C |
11: 78,291,358 (GRCm39) |
I372S |
probably damaging |
Het |
| Slco1a7 |
T |
A |
6: 141,700,182 (GRCm39) |
T117S |
probably benign |
Het |
| Spns1 |
A |
T |
7: 125,969,495 (GRCm39) |
I528N |
probably damaging |
Het |
| Sult6b2 |
T |
C |
6: 142,736,021 (GRCm39) |
K191R |
probably benign |
Het |
| Swt1 |
A |
G |
1: 151,278,700 (GRCm39) |
|
probably null |
Het |
| Tcn2 |
A |
T |
11: 3,877,546 (GRCm39) |
L34* |
probably null |
Het |
| Tmem131l |
C |
T |
3: 83,829,553 (GRCm39) |
A1035T |
possibly damaging |
Het |
| Trpc4 |
A |
G |
3: 54,223,263 (GRCm39) |
E733G |
probably damaging |
Het |
| Uap1l1 |
A |
T |
2: 25,254,642 (GRCm39) |
H184Q |
possibly damaging |
Het |
| Vil1 |
T |
G |
1: 74,455,192 (GRCm39) |
V48G |
possibly damaging |
Het |
| Vps39 |
A |
T |
2: 120,159,186 (GRCm39) |
H367Q |
probably damaging |
Het |
| Wars2 |
A |
G |
3: 99,094,962 (GRCm39) |
T86A |
probably benign |
Het |
| Wdr90 |
A |
G |
17: 26,064,107 (GRCm39) |
S1872P |
probably damaging |
Het |
| Wdr90 |
A |
G |
17: 26,065,381 (GRCm39) |
L1625P |
probably damaging |
Het |
| Zfp1005 |
A |
G |
2: 150,109,855 (GRCm39) |
T182A |
unknown |
Het |
|
| Other mutations in Xaf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02457:Xaf1
|
APN |
11 |
72,194,257 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0230:Xaf1
|
UTSW |
11 |
72,197,381 (GRCm39) |
intron |
probably benign |
|
|
R1955:Xaf1
|
UTSW |
11 |
72,197,432 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R2206:Xaf1
|
UTSW |
11 |
72,194,228 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R2207:Xaf1
|
UTSW |
11 |
72,194,228 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4864:Xaf1
|
UTSW |
11 |
72,197,682 (GRCm39) |
intron |
probably benign |
|
|
R6463:Xaf1
|
UTSW |
11 |
72,199,464 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6786:Xaf1
|
UTSW |
11 |
72,197,461 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7199:Xaf1
|
UTSW |
11 |
72,194,201 (GRCm39) |
nonsense |
probably null |
|
|
R9055:Xaf1
|
UTSW |
11 |
72,194,266 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9085:Xaf1
|
UTSW |
11 |
72,197,419 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9300:Xaf1
|
UTSW |
11 |
72,192,517 (GRCm39) |
missense |
probably benign |
0.22 |
|
R9331:Xaf1
|
UTSW |
11 |
72,197,470 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1186:Xaf1
|
UTSW |
11 |
72,199,856 (GRCm39) |
missense |
unknown |
|
|
Z1186:Xaf1
|
UTSW |
11 |
72,199,849 (GRCm39) |
frame shift |
probably null |
|
|
Z1186:Xaf1
|
UTSW |
11 |
72,199,846 (GRCm39) |
frame shift |
probably null |
|
|
Z1186:Xaf1
|
UTSW |
11 |
72,199,792 (GRCm39) |
missense |
unknown |
|
|
Z1186:Xaf1
|
UTSW |
11 |
72,199,476 (GRCm39) |
missense |
probably benign |
|
|
Z1186:Xaf1
|
UTSW |
11 |
72,197,434 (GRCm39) |
missense |
probably benign |
|
|
Z1186:Xaf1
|
UTSW |
11 |
72,197,429 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1186:Xaf1
|
UTSW |
11 |
72,197,426 (GRCm39) |
missense |
probably benign |
0.19 |
|
Z1186:Xaf1
|
UTSW |
11 |
72,199,881 (GRCm39) |
missense |
unknown |
|
|
Z1187:Xaf1
|
UTSW |
11 |
72,199,881 (GRCm39) |
missense |
unknown |
|
|
Z1187:Xaf1
|
UTSW |
11 |
72,199,856 (GRCm39) |
missense |
unknown |
|
|
Z1187:Xaf1
|
UTSW |
11 |
72,199,846 (GRCm39) |
frame shift |
probably null |
|
|
Z1187:Xaf1
|
UTSW |
11 |
72,199,792 (GRCm39) |
missense |
unknown |
|
|
Z1187:Xaf1
|
UTSW |
11 |
72,199,476 (GRCm39) |
missense |
probably benign |
|
|
Z1187:Xaf1
|
UTSW |
11 |
72,197,434 (GRCm39) |
missense |
probably benign |
|
|
Z1187:Xaf1
|
UTSW |
11 |
72,197,429 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1187:Xaf1
|
UTSW |
11 |
72,197,426 (GRCm39) |
missense |
probably benign |
0.19 |
|
Z1188:Xaf1
|
UTSW |
11 |
72,197,426 (GRCm39) |
missense |
probably benign |
0.19 |
|
Z1188:Xaf1
|
UTSW |
11 |
72,197,429 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1188:Xaf1
|
UTSW |
11 |
72,197,434 (GRCm39) |
missense |
probably benign |
|
|
Z1188:Xaf1
|
UTSW |
11 |
72,199,476 (GRCm39) |
missense |
probably benign |
|
|
Z1188:Xaf1
|
UTSW |
11 |
72,199,792 (GRCm39) |
missense |
unknown |
|
|
Z1188:Xaf1
|
UTSW |
11 |
72,199,846 (GRCm39) |
frame shift |
probably null |
|
|
Z1188:Xaf1
|
UTSW |
11 |
72,199,856 (GRCm39) |
missense |
unknown |
|
|
Z1188:Xaf1
|
UTSW |
11 |
72,199,881 (GRCm39) |
missense |
unknown |
|
|
Z1189:Xaf1
|
UTSW |
11 |
72,199,856 (GRCm39) |
missense |
unknown |
|
|
Z1189:Xaf1
|
UTSW |
11 |
72,199,847 (GRCm39) |
frame shift |
probably null |
|
|
Z1189:Xaf1
|
UTSW |
11 |
72,199,846 (GRCm39) |
frame shift |
probably null |
|
|
Z1189:Xaf1
|
UTSW |
11 |
72,199,792 (GRCm39) |
missense |
unknown |
|
|
Z1189:Xaf1
|
UTSW |
11 |
72,199,476 (GRCm39) |
missense |
probably benign |
|
|
Z1189:Xaf1
|
UTSW |
11 |
72,197,434 (GRCm39) |
missense |
probably benign |
|
|
Z1189:Xaf1
|
UTSW |
11 |
72,197,429 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1189:Xaf1
|
UTSW |
11 |
72,197,426 (GRCm39) |
missense |
probably benign |
0.19 |
|
Z1189:Xaf1
|
UTSW |
11 |
72,199,881 (GRCm39) |
missense |
unknown |
|
|
Z1190:Xaf1
|
UTSW |
11 |
72,199,881 (GRCm39) |
missense |
unknown |
|
|
Z1190:Xaf1
|
UTSW |
11 |
72,199,856 (GRCm39) |
missense |
unknown |
|
|
Z1190:Xaf1
|
UTSW |
11 |
72,199,846 (GRCm39) |
frame shift |
probably null |
|
|
Z1190:Xaf1
|
UTSW |
11 |
72,199,792 (GRCm39) |
missense |
unknown |
|
|
Z1190:Xaf1
|
UTSW |
11 |
72,199,476 (GRCm39) |
missense |
probably benign |
|
|
Z1190:Xaf1
|
UTSW |
11 |
72,197,434 (GRCm39) |
missense |
probably benign |
|
|
Z1190:Xaf1
|
UTSW |
11 |
72,197,429 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1190:Xaf1
|
UTSW |
11 |
72,197,426 (GRCm39) |
missense |
probably benign |
0.19 |
|
Z1191:Xaf1
|
UTSW |
11 |
72,199,856 (GRCm39) |
missense |
unknown |
|
|
Z1191:Xaf1
|
UTSW |
11 |
72,199,849 (GRCm39) |
frame shift |
probably null |
|
|
Z1191:Xaf1
|
UTSW |
11 |
72,199,846 (GRCm39) |
frame shift |
probably null |
|
|
Z1191:Xaf1
|
UTSW |
11 |
72,199,792 (GRCm39) |
missense |
unknown |
|
|
Z1191:Xaf1
|
UTSW |
11 |
72,199,476 (GRCm39) |
missense |
probably benign |
|
|
Z1191:Xaf1
|
UTSW |
11 |
72,197,434 (GRCm39) |
missense |
probably benign |
|
|
Z1191:Xaf1
|
UTSW |
11 |
72,197,429 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1191:Xaf1
|
UTSW |
11 |
72,197,426 (GRCm39) |
missense |
probably benign |
0.19 |
|
Z1191:Xaf1
|
UTSW |
11 |
72,199,881 (GRCm39) |
missense |
unknown |
|
|
Z1192:Xaf1
|
UTSW |
11 |
72,199,849 (GRCm39) |
frame shift |
probably null |
|
|
Z1192:Xaf1
|
UTSW |
11 |
72,199,847 (GRCm39) |
frame shift |
probably null |
|
|
Z1192:Xaf1
|
UTSW |
11 |
72,199,846 (GRCm39) |
frame shift |
probably null |
|
|
Z1192:Xaf1
|
UTSW |
11 |
72,199,792 (GRCm39) |
missense |
unknown |
|
|
Z1192:Xaf1
|
UTSW |
11 |
72,199,476 (GRCm39) |
missense |
probably benign |
|
|
Z1192:Xaf1
|
UTSW |
11 |
72,197,434 (GRCm39) |
missense |
probably benign |
|
|
Z1192:Xaf1
|
UTSW |
11 |
72,197,429 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1192:Xaf1
|
UTSW |
11 |
72,197,426 (GRCm39) |
missense |
probably benign |
0.19 |
|
Z1192:Xaf1
|
UTSW |
11 |
72,199,881 (GRCm39) |
missense |
unknown |
|
|
Z1192:Xaf1
|
UTSW |
11 |
72,199,856 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGCAACAAGGCGTCATGTC -3'
(R):5'- CTTTGTTCTGCCAGACCCATAG -3'
Sequencing Primer
(F):5'- CAACAAGGCGTCATGTCTTATGC -3'
(R):5'- CCATAGTCTTGGGGTAGCAAG -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation