Incidental Mutation 'R1486:Acrbp'
| ID |
163463 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acrbp
|
| Ensembl Gene |
ENSMUSG00000072770 |
| Gene Name |
proacrosin binding protein |
| Synonyms |
OY-TES-1, sp32 |
| MMRRC Submission |
039539-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.085)
|
| Stock # |
R1486 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
125026890-125040228 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 125027585 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 78
(Y78N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108032
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032480]
[ENSMUST00000032481]
[ENSMUST00000088294]
[ENSMUST00000112413]
[ENSMUST00000112414]
[ENSMUST00000112417]
[ENSMUST00000140131]
|
| AlphaFold |
Q3V140 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032480
|
| SMART Domains |
Protein: ENSMUSP00000032480
Gene: ENSMUSG00000030330
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ING
|
5 |
107 |
5.5e-35 |
PFAM |
|
low complexity region
|
118 |
131 |
N/A |
INTRINSIC |
|
PHD
|
197 |
242 |
3.67e-12 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032481
AA Change: Y78N
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000032481
Gene: ENSMUSG00000072770
AA Change: Y78N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PBP_sp32
|
1 |
140 |
4.8e-78 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000088294
AA Change: Y78N
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000085632
Gene: ENSMUSG00000072770
AA Change: Y78N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PBP_sp32
|
1 |
239 |
1.6e-139 |
PFAM |
|
KAZAL
|
466 |
506 |
1.42e0 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000112412
|
| SMART Domains |
Protein: ENSMUSP00000108031
Gene: ENSMUSG00000072770
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PBP_sp32
|
1 |
87 |
6.5e-32 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112413
AA Change: Y78N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000108032
Gene: ENSMUSG00000072770
AA Change: Y78N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PBP_sp32
|
1 |
169 |
6.2e-100 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112414
AA Change: Y78N
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000108033
Gene: ENSMUSG00000072770
AA Change: Y78N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PBP_sp32
|
1 |
239 |
1.9e-138 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112417
|
| SMART Domains |
Protein: ENSMUSP00000108036
Gene: ENSMUSG00000030330
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ING
|
5 |
107 |
6.5e-35 |
PFAM |
|
low complexity region
|
118 |
126 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133695
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152574
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203287
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128277
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146229
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205110
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156091
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124159
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140131
|
| SMART Domains |
Protein: ENSMUSP00000121519
Gene: ENSMUSG00000030330
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ING
|
6 |
107 |
2.1e-35 |
PFAM |
|
low complexity region
|
114 |
139 |
N/A |
INTRINSIC |
|
PHD
|
198 |
243 |
3.67e-12 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140883
|
| SMART Domains |
Protein: ENSMUSP00000118561
Gene: ENSMUSG00000030330
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ING
|
5 |
107 |
1e-34 |
PFAM |
|
low complexity region
|
118 |
131 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151125
|
| SMART Domains |
Protein: ENSMUSP00000119709
Gene: ENSMUSG00000030330
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ING
|
5 |
107 |
1.4e-34 |
PFAM |
|
low complexity region
|
118 |
131 |
N/A |
INTRINSIC |
|
PDB:1WEU|A
|
167 |
216 |
3e-32 |
PDB |
|
SCOP:d1fp0a1
|
190 |
216 |
2e-3 |
SMART |
|
Blast:PHD
|
197 |
215 |
1e-7 |
BLAST |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 93.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is similar to proacrosin binding protein sp32 precursor found in mouse, guinea pig, and pig. This protein is located in the sperm acrosome and is thought to function as a binding protein to proacrosin for packaging and condensation of the acrosin zymogen in the acrosomal matrix. This protein is a member of the cancer/testis family of antigens and it is found to be immunogenic. In normal tissues, this mRNA is expressed only in testis, whereas it is detected in a range of different tumor types such as bladder, breast, lung, liver, and colon. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in delayed fertilization due to a delay in sperm penetration of the zona pellucida. Homozygous sperm also show reduced fertilization rates of oocytes with a thick or hardened zona pellucida. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A730015C16Rik |
A |
G |
4: 108,705,143 (GRCm39) |
E19G |
probably benign |
Het |
| A730018C14Rik |
T |
C |
12: 112,382,129 (GRCm39) |
|
noncoding transcript |
Het |
| Adamtsl4 |
T |
C |
3: 95,589,166 (GRCm39) |
S422G |
probably benign |
Het |
| Apba2 |
T |
C |
7: 64,386,696 (GRCm39) |
V429A |
probably damaging |
Het |
| Atf6 |
A |
G |
1: 170,622,260 (GRCm39) |
C454R |
probably damaging |
Het |
| Bhlhe40 |
T |
C |
6: 108,641,890 (GRCm39) |
I278T |
probably damaging |
Het |
| Birc6 |
G |
T |
17: 74,946,815 (GRCm39) |
V2845L |
probably damaging |
Het |
| Card11 |
T |
C |
5: 140,862,274 (GRCm39) |
I1008V |
probably benign |
Het |
| Catsperg1 |
C |
A |
7: 28,884,920 (GRCm39) |
K900N |
probably damaging |
Het |
| Cep20 |
A |
G |
16: 14,118,004 (GRCm39) |
V172A |
probably benign |
Het |
| Chek2 |
T |
G |
5: 110,989,093 (GRCm39) |
|
probably benign |
Het |
| Dnaaf9 |
A |
G |
2: 130,579,338 (GRCm39) |
L633P |
probably damaging |
Het |
| Dnah9 |
A |
T |
11: 65,725,098 (GRCm39) |
S4352T |
probably damaging |
Het |
| Eif3c |
C |
T |
7: 126,163,893 (GRCm39) |
R50Q |
probably damaging |
Het |
| Eml6 |
A |
C |
11: 29,755,114 (GRCm39) |
I887S |
possibly damaging |
Het |
| Gipc1 |
C |
T |
8: 84,387,808 (GRCm39) |
Q63* |
probably null |
Het |
| Grm4 |
A |
G |
17: 27,653,691 (GRCm39) |
L706P |
probably damaging |
Het |
| Irak3 |
T |
C |
10: 119,978,966 (GRCm39) |
D495G |
probably damaging |
Het |
| Itga9 |
T |
G |
9: 118,455,518 (GRCm39) |
V64G |
probably damaging |
Het |
| Iws1 |
T |
C |
18: 32,230,309 (GRCm39) |
I759T |
probably damaging |
Het |
| Kdm3b |
T |
A |
18: 34,967,357 (GRCm39) |
F1721I |
probably damaging |
Het |
| Lrrc8c |
T |
A |
5: 105,755,395 (GRCm39) |
V390E |
probably damaging |
Het |
| Mki67 |
G |
A |
7: 135,301,449 (GRCm39) |
T1195I |
probably benign |
Het |
| Mphosph8 |
C |
T |
14: 56,926,496 (GRCm39) |
T646I |
probably damaging |
Het |
| Ncdn |
A |
T |
4: 126,642,391 (GRCm39) |
V422D |
probably damaging |
Het |
| Nrg1 |
T |
C |
8: 32,308,372 (GRCm39) |
E548G |
probably damaging |
Het |
| Nt5el |
T |
C |
13: 105,246,291 (GRCm39) |
V284A |
probably benign |
Het |
| Nup37 |
T |
C |
10: 87,984,116 (GRCm39) |
Y11H |
probably damaging |
Het |
| Or1ad1 |
G |
A |
11: 50,875,608 (GRCm39) |
V27I |
probably benign |
Het |
| Or51f1e |
A |
T |
7: 102,747,637 (GRCm39) |
I230F |
probably damaging |
Het |
| Or52s19 |
T |
A |
7: 103,008,201 (GRCm39) |
M67L |
possibly damaging |
Het |
| Or8j3c |
T |
A |
2: 86,253,825 (GRCm39) |
H65L |
probably damaging |
Het |
| Pcgf1 |
T |
G |
6: 83,056,107 (GRCm39) |
S70R |
probably damaging |
Het |
| Potefam1 |
T |
G |
2: 111,030,703 (GRCm39) |
Q402P |
possibly damaging |
Het |
| Prps1l3 |
C |
T |
12: 57,285,573 (GRCm39) |
A121V |
probably benign |
Het |
| Rasal1 |
T |
C |
5: 120,792,917 (GRCm39) |
Y57H |
probably damaging |
Het |
| Rbm12b2 |
A |
G |
4: 12,094,841 (GRCm39) |
R567G |
probably benign |
Het |
| Rep15 |
T |
A |
6: 146,934,577 (GRCm39) |
F139I |
probably damaging |
Het |
| Ros1 |
T |
C |
10: 52,048,954 (GRCm39) |
Y92C |
probably damaging |
Het |
| Sin3b |
A |
G |
8: 73,477,141 (GRCm39) |
T803A |
probably benign |
Het |
| Skint11 |
G |
A |
4: 114,052,015 (GRCm39) |
|
probably null |
Het |
| Sobp |
T |
G |
10: 42,898,518 (GRCm39) |
S356R |
probably benign |
Het |
| Spats2l |
T |
C |
1: 57,939,970 (GRCm39) |
I228T |
probably damaging |
Het |
| Sqor |
G |
A |
2: 122,649,565 (GRCm39) |
|
probably null |
Het |
| Stox1 |
T |
C |
10: 62,500,415 (GRCm39) |
D715G |
probably benign |
Het |
| Tln2 |
C |
A |
9: 67,219,121 (GRCm39) |
G275W |
probably damaging |
Het |
| Tmc5 |
C |
T |
7: 118,272,655 (GRCm39) |
P942S |
probably benign |
Het |
| Tor4a |
A |
T |
2: 25,084,691 (GRCm39) |
I404N |
possibly damaging |
Het |
| Ttc3 |
G |
A |
16: 94,248,988 (GRCm39) |
R1162Q |
probably damaging |
Het |
| Zfp451 |
T |
C |
1: 33,816,808 (GRCm39) |
K164E |
probably damaging |
Het |
|
| Other mutations in Acrbp |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00096:Acrbp
|
APN |
6 |
125,027,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01656:Acrbp
|
APN |
6 |
125,030,675 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL02095:Acrbp
|
APN |
6 |
125,030,919 (GRCm39) |
nonsense |
probably null |
|
|
IGL02186:Acrbp
|
APN |
6 |
125,031,773 (GRCm39) |
splice site |
probably null |
|
|
IGL02473:Acrbp
|
APN |
6 |
125,031,661 (GRCm39) |
missense |
probably benign |
|
|
IGL02831:Acrbp
|
APN |
6 |
125,038,212 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL03110:Acrbp
|
APN |
6 |
125,039,436 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0071:Acrbp
|
UTSW |
6 |
125,027,915 (GRCm39) |
unclassified |
probably benign |
|
|
R0071:Acrbp
|
UTSW |
6 |
125,027,915 (GRCm39) |
unclassified |
probably benign |
|
|
R0279:Acrbp
|
UTSW |
6 |
125,030,917 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0483:Acrbp
|
UTSW |
6 |
125,031,759 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R1017:Acrbp
|
UTSW |
6 |
125,038,223 (GRCm39) |
splice site |
probably benign |
|
|
R4679:Acrbp
|
UTSW |
6 |
125,037,881 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4898:Acrbp
|
UTSW |
6 |
125,027,501 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4987:Acrbp
|
UTSW |
6 |
125,030,725 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5249:Acrbp
|
UTSW |
6 |
125,037,885 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5458:Acrbp
|
UTSW |
6 |
125,027,013 (GRCm39) |
unclassified |
probably benign |
|
|
R5579:Acrbp
|
UTSW |
6 |
125,038,062 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6491:Acrbp
|
UTSW |
6 |
125,028,442 (GRCm39) |
unclassified |
probably benign |
|
|
R7643:Acrbp
|
UTSW |
6 |
125,030,795 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8217:Acrbp
|
UTSW |
6 |
125,037,921 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9167:Acrbp
|
UTSW |
6 |
125,039,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9280:Acrbp
|
UTSW |
6 |
125,039,938 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9492:Acrbp
|
UTSW |
6 |
125,038,062 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAACACCTCTTTCCGCTGAGGAATC -3'
(R):5'- TGGAGCAACGATACTGAGCAAACTG -3'
Sequencing Primer
(F):5'- TTCCGCTGAGGAATCTCCAG -3'
(R):5'- TGGCAGAAGGACTCAAACC -3'
|
| Posted On |
2014-03-28 |
Incidental Mutation