Incidental Mutation 'R4704:Cux1'
ID 356285
Institutional Source Beutler Lab
Gene Symbol Cux1
Ensembl Gene ENSMUSG00000029705
Gene Name cut-like homeobox 1
Synonyms CDP, Cutl1, Cux, Cux-1
MMRRC Submission 041952-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.847) question?
Stock # R4704 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 136276989-136596344 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 136278055 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 645 (V645A)
Ref Sequence ENSEMBL: ENSMUSP00000135054 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005188] [ENSMUST00000175918] [ENSMUST00000175998] [ENSMUST00000176216] [ENSMUST00000176745] [ENSMUST00000177297] [ENSMUST00000196245] [ENSMUST00000196447] [ENSMUST00000196397]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000005188
SMART Domains Protein: ENSMUSP00000005188
Gene: ENSMUSG00000005057

DomainStartEndE-ValueType
low complexity region 6 16 N/A INTRINSIC
Pfam:Phe_ZIP 17 73 9.3e-22 PFAM
Blast:PH 95 168 2e-21 BLAST
low complexity region 169 180 N/A INTRINSIC
PH 187 301 4.97e-9 SMART
low complexity region 340 350 N/A INTRINSIC
low complexity region 388 404 N/A INTRINSIC
SH2 407 492 1.38e-21 SMART
low complexity region 509 525 N/A INTRINSIC
low complexity region 548 576 N/A INTRINSIC
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: V439A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000135816
Gene: ENSMUSG00000029705
AA Change: V439A

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 probably benign
Transcript: ENSMUST00000176216
AA Change: V645A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000135054
Gene: ENSMUSG00000029705
AA Change: V645A

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: V643A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000135512
Gene: ENSMUSG00000029705
AA Change: V643A

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
Predicted Effect probably benign
Transcript: ENSMUST00000196245
Predicted Effect probably benign
Transcript: ENSMUST00000196447
SMART Domains Protein: ENSMUSP00000142728
Gene: ENSMUSG00000005057

DomainStartEndE-ValueType
Pfam:Phe_ZIP 16 74 9.1e-28 PFAM
Blast:PH 95 168 9e-22 BLAST
low complexity region 169 180 N/A INTRINSIC
PH 187 301 2.2e-11 SMART
low complexity region 340 350 N/A INTRINSIC
low complexity region 406 417 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000196397
SMART Domains Protein: ENSMUSP00000142398
Gene: ENSMUSG00000005057

DomainStartEndE-ValueType
Pfam:Phe_ZIP 16 74 1.5e-30 PFAM
Blast:PH 95 168 2e-21 BLAST
low complexity region 169 180 N/A INTRINSIC
PH 187 301 4.97e-9 SMART
low complexity region 340 350 N/A INTRINSIC
low complexity region 388 404 N/A INTRINSIC
SH2 407 492 1.38e-21 SMART
low complexity region 509 525 N/A INTRINSIC
low complexity region 548 576 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 97% (89/92)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057M21Rik A T 7: 130,959,259 (GRCm39) M147K probably damaging Het
Abca13 A G 11: 9,226,990 (GRCm39) D582G possibly damaging Het
Abca2 T C 2: 25,333,424 (GRCm39) L1683P probably damaging Het
Adam39 A G 8: 41,278,833 (GRCm39) H408R probably benign Het
Adcy4 A G 14: 56,012,482 (GRCm39) S554P possibly damaging Het
Ahnak T C 19: 8,990,545 (GRCm39) I3943T probably damaging Het
Ahnak T G 19: 8,989,622 (GRCm39) probably benign Het
Alkal2 T A 12: 30,937,195 (GRCm39) S109R probably damaging Het
Apobec4 A G 1: 152,632,001 (GRCm39) T10A probably benign Het
Arhgef40 A G 14: 52,239,767 (GRCm39) N1327S probably damaging Het
Arpc3 A G 5: 122,538,471 (GRCm39) M1V probably null Het
Ascc1 A G 10: 59,885,624 (GRCm39) Y225C probably damaging Het
Ascc3 A G 10: 50,535,110 (GRCm39) I668V probably benign Het
Bdnf T A 2: 109,554,037 (GRCm39) M137K possibly damaging Het
Cacna1b T C 2: 24,544,475 (GRCm39) D1231G probably damaging Het
Cds2 T A 2: 132,142,522 (GRCm39) Y239* probably null Het
Cpped1 G A 16: 11,703,493 (GRCm39) probably benign Het
Ctu2 G A 8: 123,206,042 (GRCm39) R261Q probably damaging Het
Cyp4f13 A G 17: 33,144,709 (GRCm39) C401R probably damaging Het
Dpt T G 1: 164,646,518 (GRCm39) Y162* probably null Het
Ednra A G 8: 78,394,592 (GRCm39) probably benign Het
Eepd1 A G 9: 25,394,122 (GRCm39) T129A probably benign Het
Eif2s1 A G 12: 78,923,944 (GRCm39) T134A probably benign Het
Eloa A G 4: 135,738,525 (GRCm39) V145A probably benign Het
Enam T A 5: 88,651,650 (GRCm39) L1053* probably null Het
Eng T C 2: 32,568,924 (GRCm39) S484P probably benign Het
Eogt A T 6: 97,090,813 (GRCm39) V442E probably damaging Het
Fam185a C T 5: 21,685,471 (GRCm39) probably benign Het
Gm4922 C T 10: 18,660,567 (GRCm39) V52I probably benign Het
Gnao1 A G 8: 94,538,004 (GRCm39) E14G probably benign Het
Gpr75 C A 11: 30,841,110 (GRCm39) A5D probably benign Het
Hbq1b T A 11: 32,237,448 (GRCm39) probably benign Het
Hdac7 G A 15: 97,694,097 (GRCm39) T724M probably damaging Het
Ifi204 C A 1: 173,587,927 (GRCm39) probably benign Het
Ift88 A G 14: 57,718,307 (GRCm39) probably benign Het
Irak4 A G 15: 94,464,781 (GRCm39) probably null Het
Kalrn T C 16: 34,024,327 (GRCm39) D610G probably damaging Het
Kifc2 T C 15: 76,547,177 (GRCm39) probably null Het
Kmt2c G A 5: 25,519,025 (GRCm39) Q2362* probably null Het
Kntc1 G A 5: 123,949,496 (GRCm39) E1956K probably damaging Het
Lama3 T C 18: 12,686,280 (GRCm39) V2781A probably benign Het
Lipt2 A G 7: 99,809,534 (GRCm39) E207G probably damaging Het
Mag A T 7: 30,608,598 (GRCm39) L172Q probably damaging Het
Map1b A T 13: 99,566,983 (GRCm39) C1913S unknown Het
Mical3 A G 6: 120,935,649 (GRCm39) S1626P probably benign Het
Mslnl G T 17: 25,957,952 (GRCm39) W65L possibly damaging Het
Muc20 G T 16: 32,599,448 (GRCm39) A3332S possibly damaging Het
Nadk C A 4: 155,669,684 (GRCm39) P157T probably benign Het
Nkx2-3 G A 19: 43,601,123 (GRCm39) E62K probably damaging Het
Or6c2 T C 10: 129,362,171 (GRCm39) L25P possibly damaging Het
Pclo A G 5: 14,726,494 (GRCm39) probably benign Het
Pcna-ps2 T A 19: 9,260,786 (GRCm39) V15E possibly damaging Het
Plekhg3 G T 12: 76,625,012 (GRCm39) G1285W probably damaging Het
Pramel29 A T 4: 143,935,162 (GRCm39) I193N probably damaging Het
Procr A G 2: 155,596,258 (GRCm39) S142G probably damaging Het
Ptpn3 A T 4: 57,270,119 (GRCm39) N14K possibly damaging Het
Rin1 C A 19: 5,105,018 (GRCm39) L693I probably damaging Het
Ripk4 C A 16: 97,547,204 (GRCm39) E290* probably null Het
Rnf213 A G 11: 119,331,175 (GRCm39) Y2128C probably damaging Het
Saal1 T C 7: 46,349,164 (GRCm39) probably benign Het
Selplg T C 5: 113,957,094 (GRCm39) D404G probably benign Het
Serpinf1 C A 11: 75,301,867 (GRCm39) A263S probably damaging Het
Sgo2b A T 8: 64,380,824 (GRCm39) D669E probably damaging Het
Slc30a9 T C 5: 67,499,616 (GRCm39) probably benign Het
Sri A T 5: 8,112,430 (GRCm39) probably null Het
Sspo G A 6: 48,475,638 (GRCm39) C4918Y probably damaging Het
Szt2 A G 4: 118,251,026 (GRCm39) Y361H probably damaging Het
Tbc1d12 T A 19: 38,889,781 (GRCm39) W404R probably damaging Het
Tcf20 T C 15: 82,735,928 (GRCm39) E1841G possibly damaging Het
Tep1 T C 14: 51,074,530 (GRCm39) T1832A probably benign Het
Tmem132e G A 11: 82,334,357 (GRCm39) A623T probably damaging Het
Tmem201 A T 4: 149,811,774 (GRCm39) F357Y possibly damaging Het
Trappc13 T G 13: 104,303,329 (GRCm39) probably benign Het
Trav6-5 C T 14: 53,728,883 (GRCm39) Q47* probably null Het
Ubxn1 T A 19: 8,849,399 (GRCm39) D47E probably benign Het
Vmn2r45 G T 7: 8,486,535 (GRCm39) S251* probably null Het
Wnk1 A G 6: 119,942,705 (GRCm39) L774S possibly damaging Het
Zfp189 T C 4: 49,530,081 (GRCm39) S395P probably damaging 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
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
R5399:Cux1 UTSW 5 136,281,458 (GRCm39) missense possibly damaging 0.58
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'- ACACAGCTGAGACAGTGCAG -3'
(R):5'- CATCTGGGAAGTAGGTTGGCTC -3'

Sequencing Primer
(F):5'- ATGGGTGACTACAGGGCTG -3'
(R):5'- AAGTAGGTTGGCTCAGGAGTATCTC -3'
Posted On 2015-10-21