Incidental Mutation 'R5399:Cux1'
ID |
429855 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cux1
|
Ensembl Gene |
ENSMUSG00000029705 |
Gene Name |
cut-like homeobox 1 |
Synonyms |
Cux-1, Cutl1, CDP, Cux |
MMRRC Submission |
042970-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.861)
|
Stock # |
R5399 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
136248135-136567490 bp(-) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 136252604 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 568
(E568G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135054
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000175918]
[ENSMUST00000175998]
[ENSMUST00000176216]
[ENSMUST00000176745]
[ENSMUST00000177297]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000175918
|
SMART Domains |
Protein: ENSMUSP00000135606 Gene: ENSMUSG00000029705
Domain | Start | End | E-Value | Type |
coiled coil region
|
73 |
328 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000175998
AA Change: E362G
PolyPhen 2
Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000135816 Gene: ENSMUSG00000029705 AA Change: E362G
Domain | Start | End | E-Value | Type |
coiled coil region
|
1 |
39 |
N/A |
INTRINSIC |
low complexity region
|
52 |
64 |
N/A |
INTRINSIC |
coiled coil region
|
76 |
148 |
N/A |
INTRINSIC |
Pfam:CASP_C
|
204 |
430 |
8.6e-72 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000176216
AA Change: E568G
PolyPhen 2
Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000135054 Gene: ENSMUSG00000029705 AA Change: E568G
Domain | Start | End | E-Value | Type |
coiled coil region
|
16 |
45 |
N/A |
INTRINSIC |
coiled coil region
|
110 |
365 |
N/A |
INTRINSIC |
internal_repeat_1
|
369 |
390 |
9.35e-5 |
PROSPERO |
Pfam:CASP_C
|
421 |
647 |
1.2e-71 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176745
AA Change: E566G
PolyPhen 2
Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000135512 Gene: ENSMUSG00000029705 AA Change: E566G
Domain | Start | End | E-Value | Type |
coiled coil region
|
16 |
45 |
N/A |
INTRINSIC |
coiled coil region
|
110 |
363 |
N/A |
INTRINSIC |
internal_repeat_1
|
367 |
388 |
8.95e-5 |
PROSPERO |
Pfam:CASP_C
|
419 |
645 |
1.2e-71 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177297
|
SMART Domains |
Protein: ENSMUSP00000134819 Gene: ENSMUSG00000029705
Domain | Start | End | E-Value | Type |
coiled coil region
|
16 |
45 |
N/A |
INTRINSIC |
coiled coil region
|
110 |
365 |
N/A |
INTRINSIC |
internal_repeat_1
|
369 |
390 |
8.99e-6 |
PROSPERO |
Pfam:CASP_C
|
422 |
527 |
1.8e-17 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.3%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Homozygotes for a targeted null mutation exhibit delayed lung development and neonatal mortality. Survivors show growth retardation and hair defects. Homozygotes for a partially deleted protein have curly hair, and females tend to lose their litters. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6820408C15Rik |
G |
T |
2: 152,440,868 |
L214F |
probably damaging |
Het |
Abcb1b |
T |
C |
5: 8,827,410 |
S657P |
probably benign |
Het |
Abcb5 |
T |
A |
12: 118,911,499 |
Y646F |
probably benign |
Het |
Agl |
A |
T |
3: 116,781,628 |
L620Q |
probably damaging |
Het |
Anapc15 |
C |
T |
7: 101,898,603 |
P68L |
probably damaging |
Het |
Arhgap23 |
A |
G |
11: 97,500,917 |
N1420S |
probably damaging |
Het |
Arntl2 |
T |
G |
6: 146,822,661 |
D350E |
probably damaging |
Het |
Barx2 |
A |
G |
9: 31,854,111 |
|
probably null |
Het |
Birc6 |
C |
A |
17: 74,604,578 |
S28R |
possibly damaging |
Het |
Btbd19 |
G |
A |
4: 117,123,760 |
A104V |
probably damaging |
Het |
Casp4 |
A |
T |
9: 5,324,928 |
K247* |
probably null |
Het |
Clk4 |
T |
C |
11: 51,275,257 |
Y17H |
probably damaging |
Het |
Cntnap1 |
A |
G |
11: 101,183,316 |
Q722R |
probably benign |
Het |
Col6a6 |
A |
G |
9: 105,709,107 |
V1905A |
possibly damaging |
Het |
Csmd1 |
C |
A |
8: 16,710,597 |
G174V |
probably damaging |
Het |
Cul1 |
T |
A |
6: 47,485,084 |
|
probably null |
Het |
Dnaaf2 |
A |
G |
12: 69,196,742 |
I515T |
probably damaging |
Het |
Fbn1 |
T |
C |
2: 125,332,333 |
I1868V |
possibly damaging |
Het |
Fcgbp |
G |
T |
7: 28,105,055 |
V1863L |
probably benign |
Het |
G2e3 |
T |
C |
12: 51,357,194 |
|
probably null |
Het |
Gabrr2 |
T |
C |
4: 33,071,458 |
|
probably null |
Het |
Gad1-ps |
G |
A |
10: 99,445,147 |
|
noncoding transcript |
Het |
Gbgt1 |
C |
T |
2: 28,503,218 |
P106L |
probably damaging |
Het |
Gm13023 |
T |
C |
4: 143,795,032 |
F406S |
probably benign |
Het |
Gm6657 |
A |
C |
12: 78,197,453 |
N60T |
probably damaging |
Het |
Gm7102 |
C |
T |
19: 61,175,926 |
G24R |
unknown |
Het |
Golga3 |
A |
G |
5: 110,205,024 |
E927G |
probably damaging |
Het |
Hfm1 |
T |
A |
5: 106,917,562 |
I84F |
possibly damaging |
Het |
Htt |
G |
T |
5: 34,877,151 |
D1989Y |
probably damaging |
Het |
Ihh |
C |
T |
1: 74,946,277 |
A350T |
probably benign |
Het |
Irx4 |
G |
C |
13: 73,265,539 |
A43P |
probably benign |
Het |
Itk |
A |
G |
11: 46,338,111 |
V414A |
probably benign |
Het |
Itsn2 |
A |
T |
12: 4,653,535 |
I744L |
probably benign |
Het |
Kdm5b |
G |
A |
1: 134,622,098 |
|
probably null |
Het |
Kif14 |
A |
G |
1: 136,503,324 |
D1153G |
probably benign |
Het |
Morc3 |
A |
G |
16: 93,862,539 |
|
probably null |
Het |
Msc |
A |
T |
1: 14,755,556 |
C65S |
probably benign |
Het |
Mybpc1 |
A |
G |
10: 88,523,014 |
V343A |
probably damaging |
Het |
Myo5c |
T |
C |
9: 75,288,074 |
I1218T |
possibly damaging |
Het |
Mypn |
C |
T |
10: 63,120,186 |
V1163I |
probably benign |
Het |
Obox3 |
A |
T |
7: 15,626,288 |
M152K |
probably benign |
Het |
Olfr1 |
AGCGGTCGTAGGC |
AGC |
11: 73,395,654 |
|
probably null |
Het |
Olfr1204 |
T |
A |
2: 88,852,655 |
L235H |
probably damaging |
Het |
Olfr1264 |
T |
A |
2: 90,021,923 |
T48S |
probably benign |
Het |
Olfr328 |
A |
G |
11: 58,552,143 |
V32A |
probably benign |
Het |
Pcdhb21 |
G |
T |
18: 37,515,719 |
V634L |
probably benign |
Het |
Ppp1r9b |
G |
A |
11: 94,992,148 |
A201T |
probably benign |
Het |
Prss23 |
A |
T |
7: 89,509,966 |
D298E |
probably benign |
Het |
Rab4b |
A |
T |
7: 27,176,162 |
N31K |
probably benign |
Het |
Ros1 |
A |
G |
10: 52,090,944 |
|
probably null |
Het |
Rragb |
G |
A |
X: 153,140,554 |
G24E |
probably damaging |
Het |
Rtl1 |
A |
T |
12: 109,590,302 |
L1701Q |
probably damaging |
Het |
Sbno1 |
T |
A |
5: 124,392,741 |
N831Y |
probably benign |
Het |
Selp |
A |
G |
1: 164,126,586 |
K152E |
possibly damaging |
Het |
Sema4b |
A |
G |
7: 80,224,886 |
T675A |
probably benign |
Het |
Slc36a3 |
T |
C |
11: 55,146,180 |
I100V |
possibly damaging |
Het |
Slco1a4 |
T |
A |
6: 141,830,707 |
I196F |
probably damaging |
Het |
Spata13 |
G |
A |
14: 60,747,541 |
S828N |
probably benign |
Het |
Stard13 |
A |
T |
5: 151,047,801 |
Y643* |
probably null |
Het |
Tll1 |
T |
C |
8: 64,085,488 |
H374R |
probably damaging |
Het |
Trmt10a |
T |
A |
3: 138,147,504 |
I42K |
probably damaging |
Het |
Trmu |
A |
T |
15: 85,896,408 |
|
probably null |
Het |
Trp53 |
T |
A |
11: 69,588,546 |
D183E |
probably benign |
Het |
Ttc22 |
T |
G |
4: 106,636,757 |
F305V |
probably damaging |
Het |
Unc13c |
A |
G |
9: 73,749,688 |
F1077S |
possibly damaging |
Het |
Utrn |
T |
A |
10: 12,640,983 |
Q2289L |
probably damaging |
Het |
Vmn1r65 |
C |
A |
7: 6,008,810 |
E142* |
probably null |
Het |
Vmn2r63 |
A |
T |
7: 42,928,277 |
V279D |
probably benign |
Het |
Zfp810 |
G |
A |
9: 22,278,829 |
T261I |
possibly damaging |
Het |
Zkscan17 |
A |
G |
11: 59,502,918 |
|
probably null |
Het |
|
Other mutations in Cux1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00846:Cux1
|
APN |
5 |
136,326,796 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL00966:Cux1
|
APN |
5 |
136,311,491 (GRCm38) |
intron |
probably benign |
|
IGL01129:Cux1
|
APN |
5 |
136,304,718 (GRCm38) |
intron |
probably benign |
|
IGL01885:Cux1
|
APN |
5 |
136,308,447 (GRCm38) |
missense |
possibly damaging |
0.90 |
IGL01947:Cux1
|
APN |
5 |
136,275,125 (GRCm38) |
missense |
probably benign |
0.04 |
IGL02259:Cux1
|
APN |
5 |
136,326,833 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL02666:Cux1
|
APN |
5 |
136,275,315 (GRCm38) |
nonsense |
probably null |
|
IGL02826:Cux1
|
APN |
5 |
136,308,003 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL03014:Cux1
|
UTSW |
5 |
136,565,525 (GRCm38) |
intron |
probably benign |
|
R0047:Cux1
|
UTSW |
5 |
136,363,253 (GRCm38) |
splice site |
probably benign |
|
R0047:Cux1
|
UTSW |
5 |
136,363,253 (GRCm38) |
splice site |
probably benign |
|
R0057:Cux1
|
UTSW |
5 |
136,256,282 (GRCm38) |
missense |
probably damaging |
1.00 |
R0149:Cux1
|
UTSW |
5 |
136,279,497 (GRCm38) |
missense |
probably damaging |
1.00 |
R0295:Cux1
|
UTSW |
5 |
136,313,212 (GRCm38) |
missense |
probably benign |
0.04 |
R0361:Cux1
|
UTSW |
5 |
136,279,497 (GRCm38) |
missense |
probably damaging |
1.00 |
R0533:Cux1
|
UTSW |
5 |
136,307,859 (GRCm38) |
missense |
probably damaging |
1.00 |
R0630:Cux1
|
UTSW |
5 |
136,286,835 (GRCm38) |
missense |
probably damaging |
1.00 |
R0801:Cux1
|
UTSW |
5 |
136,326,929 (GRCm38) |
missense |
probably damaging |
0.97 |
R0884:Cux1
|
UTSW |
5 |
136,307,835 (GRCm38) |
missense |
probably damaging |
1.00 |
R0976:Cux1
|
UTSW |
5 |
136,313,290 (GRCm38) |
missense |
probably damaging |
1.00 |
R1073:Cux1
|
UTSW |
5 |
136,252,541 (GRCm38) |
critical splice donor site |
probably null |
|
R1222:Cux1
|
UTSW |
5 |
136,275,149 (GRCm38) |
missense |
probably benign |
0.18 |
R1518:Cux1
|
UTSW |
5 |
136,308,279 (GRCm38) |
missense |
probably benign |
0.29 |
R1686:Cux1
|
UTSW |
5 |
136,275,381 (GRCm38) |
nonsense |
probably null |
|
R1687:Cux1
|
UTSW |
5 |
136,312,669 (GRCm38) |
missense |
probably damaging |
1.00 |
R1758:Cux1
|
UTSW |
5 |
136,392,322 (GRCm38) |
missense |
probably damaging |
1.00 |
R1797:Cux1
|
UTSW |
5 |
136,275,315 (GRCm38) |
missense |
probably benign |
0.22 |
R1919:Cux1
|
UTSW |
5 |
136,363,319 (GRCm38) |
nonsense |
probably null |
|
R2051:Cux1
|
UTSW |
5 |
136,332,658 (GRCm38) |
missense |
probably damaging |
1.00 |
R2339:Cux1
|
UTSW |
5 |
136,287,008 (GRCm38) |
missense |
probably damaging |
1.00 |
R3438:Cux1
|
UTSW |
5 |
136,311,560 (GRCm38) |
missense |
probably damaging |
0.97 |
R3713:Cux1
|
UTSW |
5 |
136,565,543 (GRCm38) |
intron |
probably benign |
|
R3800:Cux1
|
UTSW |
5 |
136,316,033 (GRCm38) |
missense |
probably damaging |
1.00 |
R3964:Cux1
|
UTSW |
5 |
136,282,942 (GRCm38) |
missense |
probably damaging |
1.00 |
R4135:Cux1
|
UTSW |
5 |
136,307,896 (GRCm38) |
missense |
probably damaging |
1.00 |
R4198:Cux1
|
UTSW |
5 |
136,286,848 (GRCm38) |
missense |
probably damaging |
1.00 |
R4467:Cux1
|
UTSW |
5 |
136,312,722 (GRCm38) |
missense |
probably damaging |
1.00 |
R4498:Cux1
|
UTSW |
5 |
136,312,993 (GRCm38) |
missense |
probably damaging |
1.00 |
R4622:Cux1
|
UTSW |
5 |
136,308,300 (GRCm38) |
missense |
probably damaging |
0.99 |
R4623:Cux1
|
UTSW |
5 |
136,308,300 (GRCm38) |
missense |
probably damaging |
0.99 |
R4651:Cux1
|
UTSW |
5 |
136,567,229 (GRCm38) |
missense |
probably damaging |
1.00 |
R4652:Cux1
|
UTSW |
5 |
136,567,229 (GRCm38) |
missense |
probably damaging |
1.00 |
R4658:Cux1
|
UTSW |
5 |
136,250,594 (GRCm38) |
missense |
possibly damaging |
0.80 |
R4665:Cux1
|
UTSW |
5 |
136,286,799 (GRCm38) |
missense |
probably damaging |
1.00 |
R4704:Cux1
|
UTSW |
5 |
136,249,201 (GRCm38) |
missense |
probably benign |
0.01 |
R4867:Cux1
|
UTSW |
5 |
136,274,961 (GRCm38) |
intron |
probably benign |
|
R4965:Cux1
|
UTSW |
5 |
136,311,556 (GRCm38) |
missense |
possibly damaging |
0.77 |
R5090:Cux1
|
UTSW |
5 |
136,313,200 (GRCm38) |
missense |
possibly damaging |
0.95 |
R5155:Cux1
|
UTSW |
5 |
136,565,441 (GRCm38) |
intron |
probably benign |
|
R5226:Cux1
|
UTSW |
5 |
136,370,173 (GRCm38) |
missense |
probably benign |
0.01 |
R5252:Cux1
|
UTSW |
5 |
136,308,297 (GRCm38) |
missense |
probably damaging |
0.98 |
R5266:Cux1
|
UTSW |
5 |
136,312,694 (GRCm38) |
missense |
probably damaging |
1.00 |
R5509:Cux1
|
UTSW |
5 |
136,275,317 (GRCm38) |
missense |
probably benign |
0.13 |
R5609:Cux1
|
UTSW |
5 |
136,392,320 (GRCm38) |
missense |
probably damaging |
1.00 |
R5681:Cux1
|
UTSW |
5 |
136,308,184 (GRCm38) |
missense |
probably damaging |
1.00 |
R5993:Cux1
|
UTSW |
5 |
136,363,271 (GRCm38) |
missense |
probably benign |
0.00 |
R6049:Cux1
|
UTSW |
5 |
136,332,710 (GRCm38) |
missense |
probably damaging |
1.00 |
R6290:Cux1
|
UTSW |
5 |
136,311,558 (GRCm38) |
missense |
probably damaging |
0.99 |
R6310:Cux1
|
UTSW |
5 |
136,275,164 (GRCm38) |
missense |
probably benign |
0.10 |
R6351:Cux1
|
UTSW |
5 |
136,309,792 (GRCm38) |
missense |
probably damaging |
1.00 |
R6531:Cux1
|
UTSW |
5 |
136,275,119 (GRCm38) |
missense |
probably benign |
0.03 |
R6590:Cux1
|
UTSW |
5 |
136,340,117 (GRCm38) |
missense |
probably damaging |
0.99 |
R6663:Cux1
|
UTSW |
5 |
136,485,847 (GRCm38) |
missense |
probably damaging |
1.00 |
R6690:Cux1
|
UTSW |
5 |
136,340,117 (GRCm38) |
missense |
probably damaging |
0.99 |
R6777:Cux1
|
UTSW |
5 |
136,565,568 (GRCm38) |
intron |
probably benign |
|
R6786:Cux1
|
UTSW |
5 |
136,567,231 (GRCm38) |
missense |
probably damaging |
1.00 |
R6817:Cux1
|
UTSW |
5 |
136,373,173 (GRCm38) |
splice site |
probably null |
|
R6989:Cux1
|
UTSW |
5 |
136,279,648 (GRCm38) |
nonsense |
probably null |
|
R7011:Cux1
|
UTSW |
5 |
136,360,033 (GRCm38) |
missense |
probably damaging |
1.00 |
R7167:Cux1
|
UTSW |
5 |
136,310,041 (GRCm38) |
splice site |
probably null |
|
R7699:Cux1
|
UTSW |
5 |
136,485,739 (GRCm38) |
critical splice donor site |
probably null |
|
R7861:Cux1
|
UTSW |
5 |
136,252,604 (GRCm38) |
missense |
possibly damaging |
0.58 |
R7876:Cux1
|
UTSW |
5 |
136,363,307 (GRCm38) |
missense |
probably benign |
0.00 |
R7916:Cux1
|
UTSW |
5 |
136,282,961 (GRCm38) |
missense |
probably damaging |
1.00 |
R8023:Cux1
|
UTSW |
5 |
136,373,397 (GRCm38) |
missense |
probably damaging |
0.99 |
R8154:Cux1
|
UTSW |
5 |
136,252,580 (GRCm38) |
missense |
probably damaging |
1.00 |
R8267:Cux1
|
UTSW |
5 |
136,282,999 (GRCm38) |
missense |
probably damaging |
1.00 |
R8289:Cux1
|
UTSW |
5 |
136,308,504 (GRCm38) |
missense |
probably damaging |
0.99 |
R8305:Cux1
|
UTSW |
5 |
136,360,009 (GRCm38) |
missense |
probably benign |
0.02 |
R8319:Cux1
|
UTSW |
5 |
136,565,397 (GRCm38) |
missense |
probably benign |
0.02 |
R8405:Cux1
|
UTSW |
5 |
136,275,387 (GRCm38) |
missense |
possibly damaging |
0.83 |
R8483:Cux1
|
UTSW |
5 |
136,275,090 (GRCm38) |
missense |
possibly damaging |
0.83 |
R8506:Cux1
|
UTSW |
5 |
136,308,504 (GRCm38) |
missense |
probably damaging |
0.99 |
R8671:Cux1
|
UTSW |
5 |
136,250,600 (GRCm38) |
missense |
probably damaging |
1.00 |
R8680:Cux1
|
UTSW |
5 |
136,307,856 (GRCm38) |
missense |
possibly damaging |
0.46 |
R8737:Cux1
|
UTSW |
5 |
136,282,942 (GRCm38) |
missense |
probably damaging |
1.00 |
R8738:Cux1
|
UTSW |
5 |
136,373,366 (GRCm38) |
missense |
probably damaging |
1.00 |
R8793:Cux1
|
UTSW |
5 |
136,565,685 (GRCm38) |
missense |
unknown |
|
R8897:Cux1
|
UTSW |
5 |
136,286,769 (GRCm38) |
missense |
probably damaging |
1.00 |
R8926:Cux1
|
UTSW |
5 |
136,309,550 (GRCm38) |
intron |
probably benign |
|
R8954:Cux1
|
UTSW |
5 |
136,373,349 (GRCm38) |
nonsense |
probably null |
|
R9092:Cux1
|
UTSW |
5 |
136,485,817 (GRCm38) |
missense |
probably damaging |
1.00 |
R9205:Cux1
|
UTSW |
5 |
136,370,135 (GRCm38) |
missense |
probably damaging |
1.00 |
R9550:Cux1
|
UTSW |
5 |
136,311,533 (GRCm38) |
missense |
probably damaging |
0.99 |
R9578:Cux1
|
UTSW |
5 |
136,254,065 (GRCm38) |
critical splice donor site |
probably null |
|
R9682:Cux1
|
UTSW |
5 |
136,308,262 (GRCm38) |
missense |
probably benign |
|
R9701:Cux1
|
UTSW |
5 |
136,314,315 (GRCm38) |
missense |
probably damaging |
0.97 |
R9712:Cux1
|
UTSW |
5 |
136,309,819 (GRCm38) |
missense |
probably benign |
0.35 |
|
Predicted Primers |
PCR Primer
(F):5'- ACTGTTGCTGTTCACTGGCC -3'
(R):5'- TTTAGCTCCCCAGTGGAACTG -3'
Sequencing Primer
(F):5'- CACAGTTTACATTACACCTGAGGGG -3'
(R):5'- TCCCCAGTGGAACTGTGACC -3'
|
Posted On |
2016-09-06 |