Incidental Mutation 'R5399:Cux1'
ID 429855
Institutional Source Beutler Lab
Gene Symbol Cux1
Ensembl Gene ENSMUSG00000029705
Gene Name cut-like homeobox 1
Synonyms CDP, Cutl1, Cux, Cux-1
MMRRC Submission 042970-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.892) question?
Stock # R5399 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 136276989-136596344 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 136281458 bp (GRCm39)
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: 152,282,788 (GRCm39) L214F probably damaging Het
Abcb1b T C 5: 8,877,410 (GRCm39) S657P probably benign Het
Abcb5 T A 12: 118,875,234 (GRCm39) Y646F probably benign Het
Agl A T 3: 116,575,277 (GRCm39) L620Q probably damaging Het
Anapc15 C T 7: 101,547,810 (GRCm39) P68L probably damaging Het
Arhgap23 A G 11: 97,391,743 (GRCm39) N1420S probably damaging Het
Barx2 A G 9: 31,765,407 (GRCm39) probably null Het
Birc6 C A 17: 74,911,573 (GRCm39) S28R possibly damaging Het
Bmal2 T G 6: 146,724,159 (GRCm39) D350E probably damaging Het
Btbd19 G A 4: 116,980,957 (GRCm39) A104V probably damaging Het
Casp4 A T 9: 5,324,928 (GRCm39) K247* probably null Het
Ccdc196 A C 12: 78,244,227 (GRCm39) N60T probably damaging Het
Clk4 T C 11: 51,166,084 (GRCm39) Y17H probably damaging Het
Cntnap1 A G 11: 101,074,142 (GRCm39) Q722R probably benign Het
Col6a6 A G 9: 105,586,306 (GRCm39) V1905A possibly damaging Het
Csmd1 C A 8: 16,760,613 (GRCm39) G174V probably damaging Het
Cul1 T A 6: 47,462,018 (GRCm39) probably null Het
Dnaaf2 A G 12: 69,243,516 (GRCm39) I515T probably damaging Het
Fbn1 T C 2: 125,174,253 (GRCm39) I1868V possibly damaging Het
Fcgbp G T 7: 27,804,480 (GRCm39) V1863L probably benign Het
G2e3 T C 12: 51,403,977 (GRCm39) probably null Het
Gabrr2 T C 4: 33,071,458 (GRCm39) probably null Het
Gad1-ps G A 10: 99,281,009 (GRCm39) noncoding transcript Het
Gbgt1 C T 2: 28,393,230 (GRCm39) P106L probably damaging Het
Golga3 A G 5: 110,352,890 (GRCm39) E927G probably damaging Het
Hfm1 T A 5: 107,065,428 (GRCm39) I84F possibly damaging Het
Htt G T 5: 35,034,495 (GRCm39) D1989Y probably damaging Het
Ihh C T 1: 74,985,436 (GRCm39) A350T probably benign Het
Irx4 G C 13: 73,413,658 (GRCm39) A43P probably benign Het
Itk A G 11: 46,228,938 (GRCm39) V414A probably benign Het
Itsn2 A T 12: 4,703,535 (GRCm39) I744L probably benign Het
Kdm5b G A 1: 134,549,836 (GRCm39) probably null Het
Kif14 A G 1: 136,431,062 (GRCm39) D1153G probably benign Het
Morc3 A G 16: 93,659,427 (GRCm39) probably null Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Msc A T 1: 14,825,780 (GRCm39) C65S probably benign Het
Mybpc1 A G 10: 88,358,876 (GRCm39) V343A probably damaging Het
Myo5c T C 9: 75,195,356 (GRCm39) I1218T possibly damaging Het
Mypn C T 10: 62,955,965 (GRCm39) V1163I probably benign Het
Obox3 A T 7: 15,360,213 (GRCm39) M152K probably benign Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or2t47 A G 11: 58,442,969 (GRCm39) V32A probably benign Het
Or4c106 T A 2: 88,682,999 (GRCm39) L235H probably damaging Het
Or4c3 T A 2: 89,852,267 (GRCm39) T48S probably benign Het
Pcdhb21 G T 18: 37,648,772 (GRCm39) V634L probably benign Het
Ppp1r9b G A 11: 94,882,974 (GRCm39) A201T probably benign Het
Pramel25 T C 4: 143,521,602 (GRCm39) F406S probably benign Het
Prss23 A T 7: 89,159,174 (GRCm39) D298E probably benign Het
Rab4b A T 7: 26,875,587 (GRCm39) N31K probably benign Het
Ros1 A G 10: 51,967,040 (GRCm39) probably null Het
Rragb G A X: 151,923,550 (GRCm39) G24E probably damaging Het
Rtl1 A T 12: 109,556,736 (GRCm39) L1701Q probably damaging Het
Sbno1 T A 5: 124,530,804 (GRCm39) N831Y probably benign Het
Selp A G 1: 163,954,155 (GRCm39) K152E possibly damaging Het
Sema4b A G 7: 79,874,634 (GRCm39) T675A probably benign Het
Slc36a3 T C 11: 55,037,006 (GRCm39) I100V possibly damaging Het
Slco1a4 T A 6: 141,776,433 (GRCm39) I196F probably damaging Het
Spata13 G A 14: 60,984,990 (GRCm39) S828N probably benign Het
Stard13 A T 5: 150,971,266 (GRCm39) Y643* probably null Het
Tll1 T C 8: 64,538,522 (GRCm39) H374R probably damaging Het
Trmt10a T A 3: 137,853,265 (GRCm39) I42K probably damaging Het
Trmu A T 15: 85,780,609 (GRCm39) probably null Het
Trp53 T A 11: 69,479,372 (GRCm39) D183E probably benign Het
Ttc22 T G 4: 106,493,954 (GRCm39) F305V probably damaging Het
Unc13c A G 9: 73,656,970 (GRCm39) F1077S possibly damaging Het
Utrn T A 10: 12,516,727 (GRCm39) Q2289L probably damaging Het
Vmn1r65 C A 7: 6,011,809 (GRCm39) E142* probably null Het
Vmn2r63 A T 7: 42,577,701 (GRCm39) V279D probably benign Het
Zfp810 G A 9: 22,190,125 (GRCm39) T261I possibly damaging Het
Zkscan17 A G 11: 59,393,744 (GRCm39) probably null Het
Other mutations in Cux1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00846:Cux1 APN 5 136,355,650 (GRCm39) missense probably damaging 1.00
IGL00966:Cux1 APN 5 136,340,345 (GRCm39) intron probably benign
IGL01129:Cux1 APN 5 136,333,572 (GRCm39) intron probably benign
IGL01885:Cux1 APN 5 136,337,301 (GRCm39) missense possibly damaging 0.90
IGL01947:Cux1 APN 5 136,303,979 (GRCm39) missense probably benign 0.04
IGL02259:Cux1 APN 5 136,355,687 (GRCm39) missense probably damaging 1.00
IGL02666:Cux1 APN 5 136,304,169 (GRCm39) nonsense probably null
IGL02826:Cux1 APN 5 136,336,857 (GRCm39) missense probably damaging 1.00
IGL03014:Cux1 UTSW 5 136,594,379 (GRCm39) intron probably benign
R0047:Cux1 UTSW 5 136,392,107 (GRCm39) splice site probably benign
R0047:Cux1 UTSW 5 136,392,107 (GRCm39) splice site probably benign
R0057:Cux1 UTSW 5 136,285,136 (GRCm39) missense probably damaging 1.00
R0149:Cux1 UTSW 5 136,308,351 (GRCm39) missense probably damaging 1.00
R0295:Cux1 UTSW 5 136,342,066 (GRCm39) missense probably benign 0.04
R0361:Cux1 UTSW 5 136,308,351 (GRCm39) missense probably damaging 1.00
R0533:Cux1 UTSW 5 136,336,713 (GRCm39) missense probably damaging 1.00
R0630:Cux1 UTSW 5 136,315,689 (GRCm39) missense probably damaging 1.00
R0801:Cux1 UTSW 5 136,355,783 (GRCm39) missense probably damaging 0.97
R0884:Cux1 UTSW 5 136,336,689 (GRCm39) missense probably damaging 1.00
R0976:Cux1 UTSW 5 136,342,144 (GRCm39) missense probably damaging 1.00
R1073:Cux1 UTSW 5 136,281,395 (GRCm39) critical splice donor site probably null
R1222:Cux1 UTSW 5 136,304,003 (GRCm39) missense probably benign 0.18
R1518:Cux1 UTSW 5 136,337,133 (GRCm39) missense probably benign 0.29
R1686:Cux1 UTSW 5 136,304,235 (GRCm39) nonsense probably null
R1687:Cux1 UTSW 5 136,341,523 (GRCm39) missense probably damaging 1.00
R1758:Cux1 UTSW 5 136,421,176 (GRCm39) missense probably damaging 1.00
R1797:Cux1 UTSW 5 136,304,169 (GRCm39) missense probably benign 0.22
R1919:Cux1 UTSW 5 136,392,173 (GRCm39) nonsense probably null
R2051:Cux1 UTSW 5 136,361,512 (GRCm39) missense probably damaging 1.00
R2339:Cux1 UTSW 5 136,315,862 (GRCm39) missense probably damaging 1.00
R3438:Cux1 UTSW 5 136,340,414 (GRCm39) missense probably damaging 0.97
R3713:Cux1 UTSW 5 136,594,397 (GRCm39) intron probably benign
R3800:Cux1 UTSW 5 136,344,887 (GRCm39) missense probably damaging 1.00
R3964:Cux1 UTSW 5 136,311,796 (GRCm39) missense probably damaging 1.00
R4135:Cux1 UTSW 5 136,336,750 (GRCm39) missense probably damaging 1.00
R4198:Cux1 UTSW 5 136,315,702 (GRCm39) missense probably damaging 1.00
R4467:Cux1 UTSW 5 136,341,576 (GRCm39) missense probably damaging 1.00
R4498:Cux1 UTSW 5 136,341,847 (GRCm39) missense probably damaging 1.00
R4622:Cux1 UTSW 5 136,337,154 (GRCm39) missense probably damaging 0.99
R4623:Cux1 UTSW 5 136,337,154 (GRCm39) missense probably damaging 0.99
R4651:Cux1 UTSW 5 136,596,083 (GRCm39) missense probably damaging 1.00
R4652:Cux1 UTSW 5 136,596,083 (GRCm39) missense probably damaging 1.00
R4658:Cux1 UTSW 5 136,279,448 (GRCm39) missense possibly damaging 0.80
R4665:Cux1 UTSW 5 136,315,653 (GRCm39) missense probably damaging 1.00
R4704:Cux1 UTSW 5 136,278,055 (GRCm39) missense probably benign 0.01
R4867:Cux1 UTSW 5 136,303,815 (GRCm39) intron probably benign
R4965:Cux1 UTSW 5 136,340,410 (GRCm39) missense possibly damaging 0.77
R5090:Cux1 UTSW 5 136,342,054 (GRCm39) missense possibly damaging 0.95
R5155:Cux1 UTSW 5 136,594,295 (GRCm39) intron probably benign
R5226:Cux1 UTSW 5 136,399,027 (GRCm39) missense probably benign 0.01
R5252:Cux1 UTSW 5 136,337,151 (GRCm39) missense probably damaging 0.98
R5266:Cux1 UTSW 5 136,341,548 (GRCm39) missense probably damaging 1.00
R5509:Cux1 UTSW 5 136,304,171 (GRCm39) missense probably benign 0.13
R5609:Cux1 UTSW 5 136,421,174 (GRCm39) missense probably damaging 1.00
R5681:Cux1 UTSW 5 136,337,038 (GRCm39) missense probably damaging 1.00
R5993:Cux1 UTSW 5 136,392,125 (GRCm39) missense probably benign 0.00
R6049:Cux1 UTSW 5 136,361,564 (GRCm39) missense probably damaging 1.00
R6290:Cux1 UTSW 5 136,340,412 (GRCm39) missense probably damaging 0.99
R6310:Cux1 UTSW 5 136,304,018 (GRCm39) missense probably benign 0.10
R6351:Cux1 UTSW 5 136,338,646 (GRCm39) missense probably damaging 1.00
R6531:Cux1 UTSW 5 136,303,973 (GRCm39) missense probably benign 0.03
R6590:Cux1 UTSW 5 136,368,971 (GRCm39) missense probably damaging 0.99
R6663:Cux1 UTSW 5 136,514,701 (GRCm39) missense probably damaging 1.00
R6690:Cux1 UTSW 5 136,368,971 (GRCm39) missense probably damaging 0.99
R6777:Cux1 UTSW 5 136,594,422 (GRCm39) intron probably benign
R6786:Cux1 UTSW 5 136,596,085 (GRCm39) missense probably damaging 1.00
R6817:Cux1 UTSW 5 136,402,027 (GRCm39) splice site probably null
R6989:Cux1 UTSW 5 136,308,502 (GRCm39) nonsense probably null
R7011:Cux1 UTSW 5 136,388,887 (GRCm39) missense probably damaging 1.00
R7167:Cux1 UTSW 5 136,338,895 (GRCm39) splice site probably null
R7699:Cux1 UTSW 5 136,514,593 (GRCm39) critical splice donor site probably null
R7861:Cux1 UTSW 5 136,281,458 (GRCm39) missense possibly damaging 0.58
R7876:Cux1 UTSW 5 136,392,161 (GRCm39) missense probably benign 0.00
R7916:Cux1 UTSW 5 136,311,815 (GRCm39) missense probably damaging 1.00
R8023:Cux1 UTSW 5 136,402,251 (GRCm39) missense probably damaging 0.99
R8154:Cux1 UTSW 5 136,281,434 (GRCm39) missense probably damaging 1.00
R8267:Cux1 UTSW 5 136,311,853 (GRCm39) missense probably damaging 1.00
R8289:Cux1 UTSW 5 136,337,358 (GRCm39) missense probably damaging 0.99
R8305:Cux1 UTSW 5 136,388,863 (GRCm39) missense probably benign 0.02
R8319:Cux1 UTSW 5 136,594,251 (GRCm39) missense probably benign 0.02
R8405:Cux1 UTSW 5 136,304,241 (GRCm39) missense possibly damaging 0.83
R8483:Cux1 UTSW 5 136,303,944 (GRCm39) missense possibly damaging 0.83
R8506:Cux1 UTSW 5 136,337,358 (GRCm39) missense probably damaging 0.99
R8671:Cux1 UTSW 5 136,279,454 (GRCm39) missense probably damaging 1.00
R8680:Cux1 UTSW 5 136,336,710 (GRCm39) missense possibly damaging 0.46
R8737:Cux1 UTSW 5 136,311,796 (GRCm39) missense probably damaging 1.00
R8738:Cux1 UTSW 5 136,402,220 (GRCm39) missense probably damaging 1.00
R8793:Cux1 UTSW 5 136,594,539 (GRCm39) missense unknown
R8897:Cux1 UTSW 5 136,315,623 (GRCm39) missense probably damaging 1.00
R8926:Cux1 UTSW 5 136,338,404 (GRCm39) intron probably benign
R8954:Cux1 UTSW 5 136,402,203 (GRCm39) nonsense probably null
R9092:Cux1 UTSW 5 136,514,671 (GRCm39) missense probably damaging 1.00
R9205:Cux1 UTSW 5 136,398,989 (GRCm39) missense probably damaging 1.00
R9550:Cux1 UTSW 5 136,340,387 (GRCm39) missense probably damaging 0.99
R9578:Cux1 UTSW 5 136,282,919 (GRCm39) critical splice donor site probably null
R9682:Cux1 UTSW 5 136,337,116 (GRCm39) missense probably benign
R9701:Cux1 UTSW 5 136,343,169 (GRCm39) missense probably damaging 0.97
R9712:Cux1 UTSW 5 136,338,673 (GRCm39) 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