Incidental Mutation 'R6483:Nasp'
| ID |
517198 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nasp
|
| Ensembl Gene |
ENSMUSG00000028693 |
| Gene Name |
nuclear autoantigenic sperm protein (histone-binding) |
| Synonyms |
Nasp-T, 5033430J04Rik, Epcs32, D4Ertd767e |
| MMRRC Submission |
044615-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6483 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
116458249-116485138 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 116476145 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 47
(L47Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079946
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030456]
[ENSMUST00000030457]
[ENSMUST00000081182]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030456
AA Change: L47Q
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000030456
Gene: ENSMUSG00000028693
AA Change: L47Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
18 |
N/A |
INTRINSIC |
|
TPR
|
43 |
76 |
8.51e0 |
SMART |
|
low complexity region
|
111 |
126 |
N/A |
INTRINSIC |
|
low complexity region
|
152 |
162 |
N/A |
INTRINSIC |
|
low complexity region
|
336 |
352 |
N/A |
INTRINSIC |
|
low complexity region
|
455 |
478 |
N/A |
INTRINSIC |
|
low complexity region
|
492 |
503 |
N/A |
INTRINSIC |
|
TPR
|
528 |
561 |
3.05e0 |
SMART |
|
TPR
|
570 |
603 |
2.38e-2 |
SMART |
|
low complexity region
|
620 |
640 |
N/A |
INTRINSIC |
|
low complexity region
|
703 |
715 |
N/A |
INTRINSIC |
|
low complexity region
|
742 |
759 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030457
AA Change: L47Q
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000030457
Gene: ENSMUSG00000028693
AA Change: L47Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
18 |
N/A |
INTRINSIC |
|
TPR
|
43 |
76 |
8.51e0 |
SMART |
|
low complexity region
|
111 |
126 |
N/A |
INTRINSIC |
|
low complexity region
|
133 |
153 |
N/A |
INTRINSIC |
|
low complexity region
|
167 |
178 |
N/A |
INTRINSIC |
|
TPR
|
203 |
236 |
3.05e0 |
SMART |
|
TPR
|
245 |
278 |
2.38e-2 |
SMART |
|
low complexity region
|
295 |
315 |
N/A |
INTRINSIC |
|
low complexity region
|
378 |
390 |
N/A |
INTRINSIC |
|
low complexity region
|
417 |
434 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000081182
AA Change: L47Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000079946
Gene: ENSMUSG00000028693
AA Change: L47Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
18 |
N/A |
INTRINSIC |
|
TPR
|
43 |
76 |
6.2e-2 |
SMART |
|
low complexity region
|
84 |
99 |
N/A |
INTRINSIC |
|
low complexity region
|
106 |
126 |
N/A |
INTRINSIC |
|
low complexity region
|
140 |
151 |
N/A |
INTRINSIC |
|
TPR
|
176 |
209 |
1.4e-2 |
SMART |
|
TPR
|
218 |
251 |
1.1e-4 |
SMART |
|
low complexity region
|
268 |
288 |
N/A |
INTRINSIC |
|
low complexity region
|
351 |
363 |
N/A |
INTRINSIC |
|
low complexity region
|
390 |
407 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134038
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148436
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154811
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.0%
|
| Validation Efficiency |
100% (46/46) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a H1 histone binding protein that is involved in transporting histones into the nucleus of dividing cells. Multiple isoforms are encoded by transcript variants of this gene. The somatic form is expressed in all mitotic cells, is localized to the nucleus, and is coupled to the cell cycle. The testicular form is expressed in embryonic tissues, tumor cells, and the testis. In male germ cells, this protein is localized to the cytoplasm of primary spermatocytes, the nucleus of spermatids, and the periacrosomal region of mature spermatozoa. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation display embryonic lethality before implantation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr8 |
T |
G |
14: 29,700,538 (GRCm39) |
L39R |
possibly damaging |
Het |
| Amer3 |
T |
C |
1: 34,626,771 (GRCm39) |
S337P |
probably damaging |
Het |
| Arhgef10l |
A |
T |
4: 140,344,226 (GRCm39) |
I12K |
probably damaging |
Het |
| Atp2b4 |
A |
G |
1: 133,657,618 (GRCm39) |
V624A |
possibly damaging |
Het |
| BB014433 |
A |
T |
8: 15,092,208 (GRCm39) |
L215Q |
probably benign |
Het |
| Bod1l |
A |
G |
5: 41,978,425 (GRCm39) |
V963A |
probably benign |
Het |
| Bpifa6 |
T |
C |
2: 153,832,354 (GRCm39) |
L287S |
probably benign |
Het |
| Bsnd |
A |
T |
4: 106,345,212 (GRCm39) |
L78Q |
probably damaging |
Het |
| C1qtnf3 |
T |
C |
15: 10,958,156 (GRCm39) |
|
probably null |
Het |
| Ccdc180 |
T |
G |
4: 45,921,950 (GRCm39) |
V1008G |
probably benign |
Het |
| Ccl1 |
T |
G |
11: 82,068,860 (GRCm39) |
D59A |
possibly damaging |
Het |
| Cfap58 |
T |
C |
19: 47,971,891 (GRCm39) |
I607T |
probably benign |
Het |
| Chd1l |
G |
A |
3: 97,494,483 (GRCm39) |
A399V |
probably damaging |
Het |
| Cntnap4 |
C |
T |
8: 113,484,105 (GRCm39) |
P386L |
possibly damaging |
Het |
| Col1a1 |
G |
A |
11: 94,833,444 (GRCm39) |
|
probably null |
Het |
| Dnajc13 |
A |
T |
9: 104,085,003 (GRCm39) |
D798E |
probably damaging |
Het |
| Eml6 |
T |
G |
11: 29,699,875 (GRCm39) |
I1754L |
probably benign |
Het |
| Ercc8 |
T |
A |
13: 108,320,344 (GRCm39) |
V310D |
probably damaging |
Het |
| Fat2 |
G |
A |
11: 55,187,171 (GRCm39) |
T1225I |
probably damaging |
Het |
| Gba1 |
A |
G |
3: 89,115,910 (GRCm39) |
Y510C |
probably damaging |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Gm43302 |
T |
A |
5: 105,423,726 (GRCm39) |
M416L |
probably benign |
Het |
| Grxcr2 |
A |
T |
18: 42,124,955 (GRCm39) |
V151E |
probably benign |
Het |
| Gtf2ird2 |
A |
G |
5: 134,240,066 (GRCm39) |
N296S |
probably benign |
Het |
| Herc1 |
T |
A |
9: 66,355,811 (GRCm39) |
I2354N |
possibly damaging |
Het |
| Inhbc |
G |
A |
10: 127,193,309 (GRCm39) |
R236* |
probably null |
Het |
| Itpr2 |
T |
C |
6: 146,013,975 (GRCm39) |
D2607G |
possibly damaging |
Het |
| Kcnh7 |
T |
A |
2: 62,676,118 (GRCm39) |
D298V |
probably benign |
Het |
| Klrb1c |
A |
G |
6: 128,761,148 (GRCm39) |
S160P |
probably benign |
Het |
| Mrgpra2a |
C |
G |
7: 47,076,437 (GRCm39) |
E274Q |
probably benign |
Het |
| Muc5ac |
T |
A |
7: 141,356,591 (GRCm39) |
F1059L |
probably benign |
Het |
| Naglu |
T |
C |
11: 100,962,007 (GRCm39) |
I160T |
probably damaging |
Het |
| Opa1 |
C |
T |
16: 29,447,525 (GRCm39) |
T873I |
possibly damaging |
Het |
| Or10a3n |
C |
T |
7: 108,493,318 (GRCm39) |
V99M |
possibly damaging |
Het |
| Or52x1 |
T |
C |
7: 104,853,500 (GRCm39) |
T17A |
probably benign |
Het |
| Or8u10 |
C |
A |
2: 85,915,784 (GRCm39) |
M112I |
probably benign |
Het |
| Pttg1 |
A |
G |
11: 43,315,671 (GRCm39) |
F48L |
probably damaging |
Het |
| Rho |
T |
C |
6: 115,909,218 (GRCm39) |
F85L |
possibly damaging |
Het |
| Rnasel |
T |
C |
1: 153,630,432 (GRCm39) |
V316A |
probably benign |
Het |
| Slc36a3 |
A |
G |
11: 55,026,089 (GRCm39) |
I243T |
probably benign |
Het |
| Tada2b |
G |
A |
5: 36,634,029 (GRCm39) |
T183M |
possibly damaging |
Het |
| Tbc1d22a |
A |
G |
15: 86,185,768 (GRCm39) |
M286V |
possibly damaging |
Het |
| Trim69 |
G |
T |
2: 121,998,081 (GRCm39) |
E18* |
probably null |
Het |
| Ttn |
T |
C |
2: 76,772,394 (GRCm39) |
T2503A |
possibly damaging |
Het |
| Uox |
C |
T |
3: 146,330,332 (GRCm39) |
R163* |
probably null |
Het |
| Zfp654 |
T |
A |
16: 64,612,310 (GRCm39) |
N192I |
possibly damaging |
Het |
| Zfp809 |
G |
A |
9: 22,147,540 (GRCm39) |
R58H |
probably benign |
Het |
|
| Other mutations in Nasp |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00657:Nasp
|
APN |
4 |
116,461,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00780:Nasp
|
APN |
4 |
116,461,196 (GRCm39) |
nonsense |
probably null |
|
|
IGL00833:Nasp
|
APN |
4 |
116,459,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02232:Nasp
|
APN |
4 |
116,461,997 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0023:Nasp
|
UTSW |
4 |
116,462,968 (GRCm39) |
splice site |
probably benign |
|
|
R0023:Nasp
|
UTSW |
4 |
116,462,968 (GRCm39) |
splice site |
probably benign |
|
|
R0179:Nasp
|
UTSW |
4 |
116,459,354 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0385:Nasp
|
UTSW |
4 |
116,467,892 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1707:Nasp
|
UTSW |
4 |
116,476,133 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1945:Nasp
|
UTSW |
4 |
116,479,965 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R2061:Nasp
|
UTSW |
4 |
116,468,323 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4983:Nasp
|
UTSW |
4 |
116,459,382 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5064:Nasp
|
UTSW |
4 |
116,469,167 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5687:Nasp
|
UTSW |
4 |
116,463,002 (GRCm39) |
intron |
probably benign |
|
|
R5713:Nasp
|
UTSW |
4 |
116,471,558 (GRCm39) |
missense |
probably benign |
0.34 |
|
R5839:Nasp
|
UTSW |
4 |
116,459,288 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6145:Nasp
|
UTSW |
4 |
116,468,274 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6159:Nasp
|
UTSW |
4 |
116,461,086 (GRCm39) |
splice site |
probably null |
|
|
R6234:Nasp
|
UTSW |
4 |
116,479,979 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R6286:Nasp
|
UTSW |
4 |
116,461,985 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6899:Nasp
|
UTSW |
4 |
116,461,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7276:Nasp
|
UTSW |
4 |
116,471,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7412:Nasp
|
UTSW |
4 |
116,467,785 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7763:Nasp
|
UTSW |
4 |
116,469,230 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8166:Nasp
|
UTSW |
4 |
116,468,112 (GRCm39) |
missense |
probably benign |
0.38 |
|
R8692:Nasp
|
UTSW |
4 |
116,469,280 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9093:Nasp
|
UTSW |
4 |
116,468,017 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9175:Nasp
|
UTSW |
4 |
116,471,576 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAATTAGACATGGGATTTCACGTAT -3'
(R):5'- GAAGCTCATTCTCAGTCATCCTG -3'
Sequencing Primer
(F):5'- GACATGGGATTTCACGTATATTAGG -3'
(R):5'- CTGGAGCTCACTTTGTAGACCAG -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation