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) question?
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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