Incidental Mutation 'R7861:Cux1'
ID 607503
Institutional Source Beutler Lab
Gene Symbol Cux1
Ensembl Gene ENSMUSG00000029705
Gene Name cut-like homeobox 1
Synonyms Cux-1, Cutl1, CDP, Cux
MMRRC Submission 045914-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.861) question?
Stock # R7861 (G1)
Quality Score 225.009
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: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700016H13Rik T A 5: 103,649,494 (GRCm38) I50F possibly damaging Het
Abcc3 T C 11: 94,357,249 (GRCm38) D1175G probably null Het
Accs C A 2: 93,835,732 (GRCm38) *503L probably null Het
Adgra2 A G 8: 27,114,457 (GRCm38) E520G probably damaging Het
Aldh7a1 C A 18: 56,548,453 (GRCm38) C215F probably benign Het
Apbb1ip A C 2: 22,816,978 (GRCm38) D9A unknown Het
Atad2 G A 15: 58,125,780 (GRCm38) A228V probably benign Het
Atp10a T C 7: 58,788,359 (GRCm38) S430P probably damaging Het
Atp1a3 T C 7: 25,001,148 (GRCm38) D6G unknown Het
Brca1 A T 11: 101,526,422 (GRCm38) N295K possibly damaging Het
Caly C A 7: 140,081,388 (GRCm38) probably benign Het
Ces1h A G 8: 93,357,425 (GRCm38) Y386H unknown Het
Col14a1 A G 15: 55,444,616 (GRCm38) D1044G unknown Het
Csf2rb A G 15: 78,349,157 (GRCm38) D888G probably damaging Het
Dhrs7b T A 11: 60,855,742 (GRCm38) L219Q probably damaging Het
Dlg5 G A 14: 24,245,212 (GRCm38) P80L probably damaging Het
Dnah14 C T 1: 181,616,759 (GRCm38) P545S probably damaging Het
Dnajc24 A T 2: 106,002,035 (GRCm38) M1K probably null Het
Dusp12 C T 1: 170,874,526 (GRCm38) W301* probably null Het
Dyrk1a G T 16: 94,691,716 (GRCm38) G603* probably null Het
Eif4g1 T A 16: 20,679,702 (GRCm38) V403E probably benign Het
Epn3 T C 11: 94,496,274 (GRCm38) E90G probably damaging Het
Etl4 A G 2: 20,805,910 (GRCm38) S1303G probably benign Het
Evpl A T 11: 116,228,069 (GRCm38) Y627N probably damaging Het
Fbxw25 A T 9: 109,664,557 (GRCm38) L22* probably null Het
Fcamr T A 1: 130,814,638 (GRCm38) N587K probably benign Het
Fgd6 A G 10: 94,103,331 (GRCm38) N946S probably benign Het
Fndc3b A T 3: 27,468,999 (GRCm38) I477N possibly damaging Het
Grifin C T 5: 140,564,525 (GRCm38) A54T probably benign Het
Gtf2b A G 3: 142,781,344 (GRCm38) I180M probably damaging Het
Invs A T 4: 48,397,559 (GRCm38) D378V possibly damaging Het
Itgb6 T C 2: 60,628,444 (GRCm38) E378G probably damaging Het
Khdc1a T C 1: 21,350,399 (GRCm38) I81T possibly damaging Het
Kif20b T A 19: 34,939,922 (GRCm38) D617E probably damaging Het
Kifc3 T A 8: 95,107,537 (GRCm38) probably null Het
Kirrel3 C T 9: 35,020,123 (GRCm38) H403Y possibly damaging Het
Klf15 G A 6: 90,466,838 (GRCm38) V132I probably benign Het
Kmt2a A G 9: 44,818,734 (GRCm38) S3429P unknown Het
Lama1 T G 17: 67,809,221 (GRCm38) L2361R Het
Lrp1b T C 2: 40,697,558 (GRCm38) D3895G Het
Mcoln3 A C 3: 146,124,791 (GRCm38) E92A possibly damaging Het
Myo3b T C 2: 70,108,688 (GRCm38) M135T probably damaging Het
Mysm1 A G 4: 94,946,967 (GRCm38) *820Q probably null Het
Ncoa7 A G 10: 30,691,060 (GRCm38) S541P probably benign Het
Nup54 T C 5: 92,431,093 (GRCm38) T33A unknown Het
Or10al2 C A 17: 37,672,517 (GRCm38) Q165K possibly damaging Het
Or13a17 T G 7: 140,691,571 (GRCm38) I222S probably damaging Het
Or1s2 T C 19: 13,781,446 (GRCm38) V276A possibly damaging Het
Or4k42 T A 2: 111,490,024 (GRCm38) I45F probably damaging Het
Or51a5 T A 7: 103,122,692 (GRCm38) I27F probably benign Het
Otud6b A G 4: 14,826,414 (GRCm38) C18R probably benign Het
Pde4d A G 13: 109,935,324 (GRCm38) E284G probably damaging Het
Peg10 CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC CATC 6: 4,756,431 (GRCm38) probably benign Het
Pidd1 C A 7: 141,440,142 (GRCm38) W598L probably damaging Het
Pira2 A T 7: 3,844,544 (GRCm38) C49S probably damaging Het
Pramel11 T C 4: 143,897,718 (GRCm38) M70V possibly damaging Het
Prdx1 T G 4: 116,693,738 (GRCm38) D135E probably benign Het
Rab15 T A 12: 76,803,129 (GRCm38) Y88F probably damaging Het
Rem2 C A 14: 54,477,799 (GRCm38) H144Q probably damaging Het
Sel1l3 T C 5: 53,144,064 (GRCm38) D737G probably damaging Het
Srd5a3 C T 5: 76,147,819 (GRCm38) Q119* probably null Het
Suclg2 G T 6: 95,594,722 (GRCm38) Q120K probably benign Het
Tacc2 T A 7: 130,625,431 (GRCm38) M1282K probably benign Het
Tbc1d5 T A 17: 50,756,692 (GRCm38) Q620L probably damaging Het
Tdrd3 G T 14: 87,472,154 (GRCm38) A91S probably damaging Het
Thsd7b T A 1: 130,159,698 (GRCm38) F1184Y probably benign Het
Trim28 T A 7: 13,028,412 (GRCm38) V321E possibly damaging Het
Trim5 C A 7: 104,266,468 (GRCm38) probably null Het
Ugt2b37 A T 5: 87,242,440 (GRCm38) Y382* probably null Het
Usp40 C T 1: 87,982,130 (GRCm38) G534D probably damaging Het
Usp53 A T 3: 122,934,463 (GRCm38) H823Q probably benign Het
Vmn2r12 T A 5: 109,087,963 (GRCm38) M508L probably benign Het
Vmn2r56 T A 7: 12,715,424 (GRCm38) I296F probably benign Het
Vps13a T C 19: 16,655,304 (GRCm38) S2563G probably damaging Het
Wdr59 A G 8: 111,494,280 (GRCm38) F207L Het
Zan A G 5: 137,407,033 (GRCm38) S3777P unknown Het
Zfp277 T C 12: 40,315,881 (GRCm38) N530D possibly damaging Het
Zfp365 G A 10: 67,909,919 (GRCm38) R10W probably damaging Het
Zfp384 A T 6: 125,036,325 (GRCm38) H452L probably damaging Het
Zftraf1 C T 15: 76,648,186 (GRCm38) D241N probably benign Het
Zfyve28 A T 5: 34,217,143 (GRCm38) L509Q probably damaging 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
R5399:Cux1 UTSW 5 136,252,604 (GRCm38) missense possibly damaging 0.58
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
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'- AACTGTTGCTGTTCACTGGC -3'
(R):5'- TTAGCTCCCCAGTGGAACTG -3'

Sequencing Primer
(F):5'- CACAGTTTACATTACACCTGAGGGG -3'
(R):5'- TCCCCAGTGGAACTGTGACC -3'
Posted On 2019-12-20