Incidental Mutation 'R9331:Xaf1'
| ID |
706860 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Xaf1
|
| Ensembl Gene |
ENSMUSG00000040483 |
| Gene Name |
XIAP associated factor 1 |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.096)
|
| Stock # |
R9331 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
72192455-72204559 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 72197470 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 149
(S149P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123011
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094041]
[ENSMUST00000140842]
[ENSMUST00000146233]
[ENSMUST00000151440]
|
| AlphaFold |
Q5NBU8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094041
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140842
|
| SMART Domains |
Protein: ENSMUSP00000121472
Gene: ENSMUSG00000040483
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2LXW|A
|
133 |
175 |
7e-13 |
PDB |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000146233
AA Change: S149P
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000123011
Gene: ENSMUSG00000040483
AA Change: S149P
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2LXW|A
|
228 |
270 |
3e-12 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151440
|
| SMART Domains |
Protein: ENSMUSP00000121483
Gene: ENSMUSG00000040483
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
A |
G |
17: 24,616,324 (GRCm39) |
E922G |
probably benign |
Het |
| Abca8a |
A |
G |
11: 109,917,154 (GRCm39) |
L1615P |
probably damaging |
Het |
| Actrt3 |
T |
C |
3: 30,652,050 (GRCm39) |
D348G |
probably damaging |
Het |
| Adam3 |
A |
G |
8: 25,177,951 (GRCm39) |
M654T |
probably benign |
Het |
| Adamts8 |
A |
T |
9: 30,862,770 (GRCm39) |
H325L |
probably damaging |
Het |
| Agpat2 |
A |
G |
2: 26,487,318 (GRCm39) |
Y72H |
probably benign |
Het |
| Ap3m1 |
A |
G |
14: 21,095,666 (GRCm39) |
Y55H |
possibly damaging |
Het |
| Cacna1a |
C |
T |
8: 85,142,446 (GRCm39) |
A58V |
probably damaging |
Het |
| Cacna1c |
C |
T |
6: 119,084,909 (GRCm39) |
V10I |
|
Het |
| Ccnt1 |
T |
A |
15: 98,441,097 (GRCm39) |
K724* |
probably null |
Het |
| Cd72 |
T |
A |
4: 43,454,320 (GRCm39) |
T38S |
possibly damaging |
Het |
| Crispld1 |
T |
A |
1: 17,832,454 (GRCm39) |
I480K |
probably damaging |
Het |
| Diaph3 |
G |
T |
14: 87,378,461 (GRCm39) |
Y30* |
probably null |
Het |
| Ei24 |
A |
G |
9: 36,701,217 (GRCm39) |
I34T |
possibly damaging |
Het |
| Fdxacb1 |
G |
A |
9: 50,681,511 (GRCm39) |
S144N |
probably damaging |
Het |
| Fgf21 |
G |
T |
7: 45,263,614 (GRCm39) |
Q155K |
probably benign |
Het |
| Gdap1l1 |
A |
T |
2: 163,295,664 (GRCm39) |
R310S |
probably benign |
Het |
| Gm44501 |
G |
A |
17: 40,889,620 (GRCm39) |
V45I |
probably benign |
Het |
| Gne |
A |
G |
4: 44,066,845 (GRCm39) |
L56P |
probably damaging |
Het |
| Hcn4 |
T |
C |
9: 58,767,705 (GRCm39) |
S1089P |
probably damaging |
Het |
| Hexim1 |
C |
T |
11: 103,007,974 (GRCm39) |
T76M |
probably damaging |
Het |
| Hkdc1 |
A |
T |
10: 62,236,114 (GRCm39) |
L476* |
probably null |
Het |
| Hoxd8 |
CGCGGCGGCGGCGGCGGC |
CGCGGCGGCGGCGGC |
2: 74,535,942 (GRCm39) |
|
probably benign |
Het |
| Hyal4 |
A |
T |
6: 24,765,866 (GRCm39) |
I407L |
probably damaging |
Het |
| Ighv5-9-1 |
T |
C |
12: 113,699,878 (GRCm39) |
Y78C |
possibly damaging |
Het |
| Kif20a |
T |
A |
18: 34,762,562 (GRCm39) |
C478* |
probably null |
Het |
| Klk15 |
C |
T |
7: 43,587,790 (GRCm39) |
H73Y |
possibly damaging |
Het |
| Ltbp2 |
C |
T |
12: 84,922,965 (GRCm39) |
R34Q |
probably benign |
Het |
| Mccc1 |
A |
G |
3: 36,014,238 (GRCm39) |
V693A |
probably damaging |
Het |
| Muc5b |
C |
A |
7: 141,411,475 (GRCm39) |
Q1474K |
unknown |
Het |
| Nos1 |
T |
C |
5: 118,038,589 (GRCm39) |
V474A |
possibly damaging |
Het |
| Nprl2 |
G |
A |
9: 107,421,955 (GRCm39) |
V244M |
probably damaging |
Het |
| Npy2r |
A |
G |
3: 82,448,068 (GRCm39) |
S236P |
probably damaging |
Het |
| Or8b9 |
G |
A |
9: 37,766,710 (GRCm39) |
V199I |
probably benign |
Het |
| Or8c10 |
A |
G |
9: 38,279,003 (GRCm39) |
S44G |
probably benign |
Het |
| P2rx7 |
T |
C |
5: 122,818,961 (GRCm39) |
L461P |
probably benign |
Het |
| Pacc1 |
T |
C |
1: 191,077,318 (GRCm39) |
|
probably null |
Het |
| Pde12 |
T |
C |
14: 26,389,828 (GRCm39) |
I294V |
probably benign |
Het |
| Plcl1 |
T |
C |
1: 55,736,030 (GRCm39) |
L457P |
possibly damaging |
Het |
| Plekho2 |
C |
A |
9: 65,463,866 (GRCm39) |
A328S |
probably benign |
Het |
| Polg |
T |
C |
7: 79,108,148 (GRCm39) |
K556E |
probably damaging |
Het |
| Prl7a2 |
A |
G |
13: 27,849,062 (GRCm39) |
S76P |
probably damaging |
Het |
| Ptar1 |
T |
A |
19: 23,671,707 (GRCm39) |
C37S |
probably benign |
Het |
| Pwwp2b |
G |
A |
7: 138,835,357 (GRCm39) |
G266D |
probably damaging |
Het |
| Pygm |
T |
C |
19: 6,448,129 (GRCm39) |
F812L |
probably damaging |
Het |
| Smarcc2 |
A |
T |
10: 128,323,310 (GRCm39) |
T982S |
unknown |
Het |
| Spata31e2 |
T |
C |
1: 26,722,790 (GRCm39) |
R797G |
probably benign |
Het |
| Syne1 |
C |
G |
10: 5,073,666 (GRCm39) |
V1226L |
probably benign |
Het |
| Tmco1 |
C |
T |
1: 167,136,132 (GRCm39) |
|
probably benign |
Het |
| Tmub1 |
T |
C |
5: 24,650,985 (GRCm39) |
T225A |
probably damaging |
Het |
| Trmo |
A |
C |
4: 46,387,642 (GRCm39) |
C59W |
possibly damaging |
Het |
| Ttc6 |
C |
A |
12: 57,720,509 (GRCm39) |
A925D |
probably damaging |
Het |
| Tubb1 |
A |
G |
2: 174,297,472 (GRCm39) |
E27G |
probably damaging |
Het |
| Unkl |
G |
A |
17: 25,450,723 (GRCm39) |
C503Y |
probably damaging |
Het |
| Usp40 |
A |
G |
1: 87,901,828 (GRCm39) |
I785T |
probably damaging |
Het |
| Vmn2r32 |
G |
A |
7: 7,467,402 (GRCm39) |
Q709* |
probably null |
Het |
| Ythdc2 |
T |
A |
18: 44,970,499 (GRCm39) |
V271E |
possibly damaging |
Het |
| Zfp386 |
C |
T |
12: 116,011,433 (GRCm39) |
|
probably benign |
Het |
| Zfp456 |
T |
A |
13: 67,514,389 (GRCm39) |
E439V |
probably damaging |
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 |
|
|
R5973:Xaf1
|
UTSW |
11 |
72,194,256 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
|
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'- AATGCTCATGAGTACAGGCCG -3'
(R):5'- CAGAGCTGCTCTTTGATGGG -3'
Sequencing Primer
(F):5'- TACAGGCCGAGGGAGAAACC -3'
(R):5'- CTCTTTGATGGGATAGGCAAAATG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation