Incidental Mutation 'R6000:Nckap1l'
| ID |
480807 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nckap1l
|
| Ensembl Gene |
ENSMUSG00000022488 |
| Gene Name |
NCK associated protein 1 like |
| Synonyms |
Hem1, 4930568P13Rik |
| MMRRC Submission |
044179-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.835)
|
| Stock # |
R6000 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
103362221-103407237 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 103387242 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 706
(S706P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035400
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047405]
[ENSMUST00000229127]
|
| AlphaFold |
Q8K1X4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047405
AA Change: S706P
PolyPhen 2
Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000035400
Gene: ENSMUSG00000022488
AA Change: S706P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Nckap1
|
7 |
1123 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229127
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229468
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229835
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230276
|
| Meta Mutation Damage Score |
0.4374 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.7%
|
| Validation Efficiency |
100% (64/64) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the HEM family of tissue-specific transmembrane proteins which are highly conserved from invertebrates through mammals. This gene is only expressed in hematopoietic cells. The encoded protein is a part of the Scar/WAVE complex which plays an important role in regulating cell shape in both metazoans and plants. Alternatively spliced transcript variants encoding different isoforms have been found.[provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit anemia, lymphopenia, neutrophilia and tissue-specific pathology, defective neutrophil migration, phagocytosis and F-actin polymerization, abnormal B and T cell development, impaired T cell activation and adhesion, and enhanced IL-17 production. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310034C09Rik |
T |
C |
16: 88,556,427 (GRCm39) |
C214R |
possibly damaging |
Het |
| Ahnak |
A |
T |
19: 8,990,475 (GRCm39) |
K3920* |
probably null |
Het |
| Alox12b |
A |
G |
11: 69,060,394 (GRCm39) |
D650G |
probably damaging |
Het |
| Amt |
A |
T |
9: 108,178,684 (GRCm39) |
Y400F |
probably benign |
Het |
| Ankrd11 |
A |
G |
8: 123,617,934 (GRCm39) |
S1973P |
possibly damaging |
Het |
| Aoc1 |
A |
T |
6: 48,884,573 (GRCm39) |
T539S |
probably benign |
Het |
| Arhgap44 |
CTGCT |
CTGCTTGCT |
11: 64,922,910 (GRCm39) |
|
probably null |
Het |
| Ccdc15 |
C |
T |
9: 37,227,060 (GRCm39) |
G292S |
probably benign |
Het |
| Ccdc162 |
C |
T |
10: 41,437,159 (GRCm39) |
C287Y |
possibly damaging |
Het |
| Ccn6 |
T |
C |
10: 39,034,296 (GRCm39) |
Y102C |
probably damaging |
Het |
| Cdk15 |
G |
A |
1: 59,328,818 (GRCm39) |
G244D |
probably damaging |
Het |
| Cep290 |
T |
A |
10: 100,377,649 (GRCm39) |
Y1560N |
probably damaging |
Het |
| Cfap251 |
A |
G |
5: 123,392,435 (GRCm39) |
|
probably benign |
Het |
| Cic |
A |
C |
7: 24,971,423 (GRCm39) |
I385L |
probably benign |
Het |
| Cobl |
A |
T |
11: 12,319,684 (GRCm39) |
F231L |
probably benign |
Het |
| Cpeb1 |
T |
C |
7: 81,011,428 (GRCm39) |
D171G |
possibly damaging |
Het |
| Csnk1g2 |
T |
A |
10: 80,474,778 (GRCm39) |
V305E |
probably damaging |
Het |
| Cyp2c29 |
A |
G |
19: 39,296,050 (GRCm39) |
|
probably null |
Het |
| Dner |
A |
T |
1: 84,361,650 (GRCm39) |
M653K |
possibly damaging |
Het |
| Dst |
T |
A |
1: 34,251,304 (GRCm39) |
M4311K |
possibly damaging |
Het |
| Ep400 |
A |
G |
5: 110,831,067 (GRCm39) |
S2200P |
unknown |
Het |
| Ephb2 |
A |
T |
4: 136,411,341 (GRCm39) |
S440T |
possibly damaging |
Het |
| Ercc1 |
A |
T |
7: 19,081,086 (GRCm39) |
|
probably benign |
Het |
| Folh1 |
T |
A |
7: 86,375,142 (GRCm39) |
N615Y |
probably benign |
Het |
| Gm7298 |
T |
C |
6: 121,742,038 (GRCm39) |
Y487H |
possibly damaging |
Het |
| Gucy1b2 |
A |
T |
14: 62,656,499 (GRCm39) |
I286N |
probably benign |
Het |
| Hr |
A |
G |
14: 70,805,273 (GRCm39) |
D1005G |
probably damaging |
Het |
| Ifrd1 |
C |
A |
12: 40,266,243 (GRCm39) |
V117F |
possibly damaging |
Het |
| Ift140 |
A |
T |
17: 25,255,934 (GRCm39) |
T210S |
probably benign |
Het |
| Igll1 |
C |
A |
16: 16,681,805 (GRCm39) |
|
probably benign |
Het |
| Ino80 |
G |
T |
2: 119,204,989 (GRCm39) |
S1512R |
probably benign |
Het |
| Intu |
A |
T |
3: 40,608,578 (GRCm39) |
K197* |
probably null |
Het |
| Kdm6b |
A |
G |
11: 69,294,424 (GRCm39) |
L1216P |
unknown |
Het |
| Klrb1c |
T |
G |
6: 128,761,120 (GRCm39) |
D169A |
probably damaging |
Het |
| Lamp3 |
T |
A |
16: 19,519,698 (GRCm39) |
T162S |
possibly damaging |
Het |
| Mapk10 |
G |
A |
5: 103,114,342 (GRCm39) |
P319S |
probably damaging |
Het |
| Mapk10 |
G |
A |
5: 103,114,341 (GRCm39) |
P319L |
probably damaging |
Het |
| Mical3 |
T |
C |
6: 120,998,281 (GRCm39) |
T702A |
probably benign |
Het |
| Mstn |
C |
T |
1: 53,100,828 (GRCm39) |
|
probably benign |
Het |
| Nckap5l |
G |
A |
15: 99,324,766 (GRCm39) |
T579I |
probably damaging |
Het |
| Or13p3 |
A |
T |
4: 118,567,441 (GRCm39) |
N279I |
probably damaging |
Het |
| Or4a27 |
C |
A |
2: 88,559,575 (GRCm39) |
A123S |
probably damaging |
Het |
| Or8s16 |
G |
A |
15: 98,211,317 (GRCm39) |
T38I |
probably benign |
Het |
| Pcdh18 |
A |
C |
3: 49,708,913 (GRCm39) |
S801A |
probably damaging |
Het |
| Pde11a |
A |
T |
2: 75,848,204 (GRCm39) |
D874E |
probably damaging |
Het |
| Pfdn6 |
G |
T |
17: 34,158,589 (GRCm39) |
P62T |
probably damaging |
Het |
| Pkd1l1 |
A |
G |
11: 8,900,427 (GRCm39) |
I38T |
probably benign |
Het |
| Prkdc |
A |
T |
16: 15,647,561 (GRCm39) |
I3662F |
possibly damaging |
Het |
| Psg26 |
A |
T |
7: 18,216,617 (GRCm39) |
L74* |
probably null |
Het |
| Rassf6 |
A |
G |
5: 90,751,736 (GRCm39) |
V341A |
probably damaging |
Het |
| Rsad2 |
C |
A |
12: 26,497,150 (GRCm39) |
|
probably null |
Het |
| Rwdd3 |
A |
G |
3: 120,950,162 (GRCm39) |
Y95H |
probably damaging |
Het |
| Scfd1 |
A |
G |
12: 51,492,457 (GRCm39) |
I589V |
possibly damaging |
Het |
| Sgsm1 |
A |
T |
5: 113,434,704 (GRCm39) |
I131N |
probably damaging |
Het |
| Tecpr1 |
A |
G |
5: 144,148,239 (GRCm39) |
S389P |
probably benign |
Het |
| Tle3 |
T |
A |
9: 61,281,296 (GRCm39) |
I29N |
probably damaging |
Het |
| Tmem63c |
C |
A |
12: 87,103,971 (GRCm39) |
N73K |
probably damaging |
Het |
| Tpm2 |
T |
A |
4: 43,518,301 (GRCm39) |
|
probably null |
Het |
| Trak2 |
A |
T |
1: 58,950,971 (GRCm39) |
D405E |
possibly damaging |
Het |
| Ttn |
C |
A |
2: 76,575,516 (GRCm39) |
A23380S |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,715,495 (GRCm39) |
|
probably benign |
Het |
| Tub |
T |
C |
7: 108,628,857 (GRCm39) |
S391P |
probably damaging |
Het |
| Ush2a |
G |
T |
1: 187,999,223 (GRCm39) |
E178* |
probably null |
Het |
| Vamp9 |
G |
T |
5: 100,089,226 (GRCm39) |
A164S |
probably benign |
Het |
| Ylpm1 |
C |
A |
12: 85,044,030 (GRCm39) |
T256K |
unknown |
Het |
| Zfp1007 |
A |
G |
5: 109,824,730 (GRCm39) |
V240A |
probably benign |
Het |
|
| Other mutations in Nckap1l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01548:Nckap1l
|
APN |
15 |
103,371,147 (GRCm39) |
missense |
probably benign |
0.42 |
|
IGL01818:Nckap1l
|
APN |
15 |
103,386,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01912:Nckap1l
|
APN |
15 |
103,382,573 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL01945:Nckap1l
|
APN |
15 |
103,370,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01947:Nckap1l
|
APN |
15 |
103,399,442 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL02218:Nckap1l
|
APN |
15 |
103,391,954 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
IGL02317:Nckap1l
|
APN |
15 |
103,370,005 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02376:Nckap1l
|
APN |
15 |
103,379,658 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL03263:Nckap1l
|
APN |
15 |
103,372,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
hem-haw
|
UTSW |
15 |
103,379,659 (GRCm39) |
nonsense |
probably null |
|
|
Sinstral
|
UTSW |
15 |
103,392,040 (GRCm39) |
missense |
probably benign |
|
|
stammer
|
UTSW |
15 |
103,382,248 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
stutter
|
UTSW |
15 |
103,384,526 (GRCm39) |
critical splice donor site |
probably null |
|
|
tentative
|
UTSW |
15 |
103,382,586 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02802:Nckap1l
|
UTSW |
15 |
103,372,963 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0016:Nckap1l
|
UTSW |
15 |
103,384,063 (GRCm39) |
missense |
probably benign |
|
|
R0016:Nckap1l
|
UTSW |
15 |
103,384,063 (GRCm39) |
missense |
probably benign |
|
|
R0114:Nckap1l
|
UTSW |
15 |
103,363,455 (GRCm39) |
missense |
probably benign |
|
|
R0137:Nckap1l
|
UTSW |
15 |
103,390,391 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0375:Nckap1l
|
UTSW |
15 |
103,382,586 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0390:Nckap1l
|
UTSW |
15 |
103,362,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0412:Nckap1l
|
UTSW |
15 |
103,373,079 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0467:Nckap1l
|
UTSW |
15 |
103,405,854 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1245:Nckap1l
|
UTSW |
15 |
103,364,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1592:Nckap1l
|
UTSW |
15 |
103,390,607 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1593:Nckap1l
|
UTSW |
15 |
103,387,281 (GRCm39) |
missense |
probably null |
0.00 |
|
R1879:Nckap1l
|
UTSW |
15 |
103,373,028 (GRCm39) |
missense |
probably benign |
|
|
R2081:Nckap1l
|
UTSW |
15 |
103,405,881 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2144:Nckap1l
|
UTSW |
15 |
103,384,103 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2228:Nckap1l
|
UTSW |
15 |
103,364,361 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2229:Nckap1l
|
UTSW |
15 |
103,364,361 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2411:Nckap1l
|
UTSW |
15 |
103,391,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3965:Nckap1l
|
UTSW |
15 |
103,373,016 (GRCm39) |
nonsense |
probably null |
|
|
R3971:Nckap1l
|
UTSW |
15 |
103,370,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4270:Nckap1l
|
UTSW |
15 |
103,381,549 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R4348:Nckap1l
|
UTSW |
15 |
103,395,246 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4351:Nckap1l
|
UTSW |
15 |
103,395,246 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4748:Nckap1l
|
UTSW |
15 |
103,381,483 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4918:Nckap1l
|
UTSW |
15 |
103,392,040 (GRCm39) |
missense |
probably benign |
|
|
R5230:Nckap1l
|
UTSW |
15 |
103,392,066 (GRCm39) |
missense |
probably benign |
0.30 |
|
R5595:Nckap1l
|
UTSW |
15 |
103,384,085 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R5642:Nckap1l
|
UTSW |
15 |
103,363,452 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5701:Nckap1l
|
UTSW |
15 |
103,381,195 (GRCm39) |
missense |
probably benign |
0.34 |
|
R6229:Nckap1l
|
UTSW |
15 |
103,381,549 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R6367:Nckap1l
|
UTSW |
15 |
103,384,149 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6420:Nckap1l
|
UTSW |
15 |
103,399,893 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6440:Nckap1l
|
UTSW |
15 |
103,379,659 (GRCm39) |
nonsense |
probably null |
|
|
R6957:Nckap1l
|
UTSW |
15 |
103,399,938 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7023:Nckap1l
|
UTSW |
15 |
103,384,493 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7083:Nckap1l
|
UTSW |
15 |
103,390,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7360:Nckap1l
|
UTSW |
15 |
103,384,526 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7361:Nckap1l
|
UTSW |
15 |
103,379,709 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7457:Nckap1l
|
UTSW |
15 |
103,362,233 (GRCm39) |
start gained |
probably benign |
|
|
R7582:Nckap1l
|
UTSW |
15 |
103,390,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7662:Nckap1l
|
UTSW |
15 |
103,371,012 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7699:Nckap1l
|
UTSW |
15 |
103,371,248 (GRCm39) |
splice site |
probably null |
|
|
R7951:Nckap1l
|
UTSW |
15 |
103,381,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8059:Nckap1l
|
UTSW |
15 |
103,401,714 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8124:Nckap1l
|
UTSW |
15 |
103,382,248 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8152:Nckap1l
|
UTSW |
15 |
103,386,957 (GRCm39) |
splice site |
probably null |
|
|
R8829:Nckap1l
|
UTSW |
15 |
103,387,242 (GRCm39) |
missense |
probably benign |
|
|
R8832:Nckap1l
|
UTSW |
15 |
103,387,242 (GRCm39) |
missense |
probably benign |
|
|
R9294:Nckap1l
|
UTSW |
15 |
103,381,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9338:Nckap1l
|
UTSW |
15 |
103,379,991 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9668:Nckap1l
|
UTSW |
15 |
103,382,277 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGCAGAGCTCCAAACACAG -3'
(R):5'- TGCTCACTCTACTAAACAAGGGG -3'
Sequencing Primer
(F):5'- GCTCCAAACACAGCCTGGTATTTC -3'
(R):5'- CTCACTCTACTAAACAAGGGGGATAG -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation