Incidental Mutation 'R6920:Rhot1'
ID 539593
Institutional Source Beutler Lab
Gene Symbol Rhot1
Ensembl Gene ENSMUSG00000017686
Gene Name ras homolog family member T1
Synonyms 2210403N23Rik, FLJ11040, Arht1, Miro1, C430039G08Rik
MMRRC Submission 045040-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6920 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 80099845-80158733 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 80132921 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 218 (N218K)
Ref Sequence ENSEMBL: ENSMUSP00000017831 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017831] [ENSMUST00000055056] [ENSMUST00000077451] [ENSMUST00000092857]
AlphaFold Q8BG51
Predicted Effect probably benign
Transcript: ENSMUST00000017831
AA Change: N218K

PolyPhen 2 Score 0.356 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000017831
Gene: ENSMUSG00000017686
AA Change: N218K

DomainStartEndE-ValueType
Pfam:Arf 7 177 5.5e-6 PFAM
Pfam:Miro 19 134 2.5e-18 PFAM
Pfam:Ras 19 181 1.4e-20 PFAM
EFh 201 229 6.75e0 SMART
Pfam:EF_assoc_2 231 319 5.3e-36 PFAM
EFh 321 349 1.67e0 SMART
Pfam:EF_assoc_1 353 427 1.8e-33 PFAM
Pfam:Miro 433 543 6.6e-16 PFAM
Pfam:Ras 433 566 1.7e-6 PFAM
transmembrane domain 638 660 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000055056
AA Change: N218K

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000057669
Gene: ENSMUSG00000017686
AA Change: N218K

DomainStartEndE-ValueType
Pfam:Arf 7 177 5.6e-6 PFAM
Pfam:Miro 19 134 2.5e-18 PFAM
Pfam:Ras 19 181 1.4e-20 PFAM
EFh 201 229 6.75e0 SMART
Pfam:EF_assoc_2 231 319 5.4e-36 PFAM
EFh 321 349 1.67e0 SMART
Pfam:EF_assoc_1 353 427 1.8e-33 PFAM
Pfam:Miro 433 543 6.7e-16 PFAM
Pfam:Ras 433 577 1.6e-6 PFAM
transmembrane domain 647 669 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000077451
AA Change: N218K

PolyPhen 2 Score 0.331 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000076664
Gene: ENSMUSG00000017686
AA Change: N218K

DomainStartEndE-ValueType
Pfam:Roc 19 135 9.4e-11 PFAM
Pfam:Ras 19 181 9.1e-21 PFAM
EFh 201 229 6.75e0 SMART
Pfam:EF_assoc_2 232 318 8.3e-36 PFAM
EFh 321 349 1.67e0 SMART
Pfam:EF_assoc_1 354 426 7e-32 PFAM
Pfam:Ras 433 566 1.5e-6 PFAM
transmembrane domain 679 701 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000092857
AA Change: N218K

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000090533
Gene: ENSMUSG00000017686
AA Change: N218K

DomainStartEndE-ValueType
small_GTPase 15 182 5.1e-8 SMART
EFh 201 229 3.3e-2 SMART
Pfam:EF_assoc_2 231 319 2.9e-33 PFAM
EFh 321 349 8.1e-3 SMART
Pfam:EF_assoc_1 353 427 1e-30 PFAM
Pfam:Miro 433 543 8e-15 PFAM
Pfam:Ras 433 566 2.5e-5 PFAM
transmembrane domain 606 628 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000134894
SMART Domains Protein: ENSMUSP00000117941
Gene: ENSMUSG00000017686

DomainStartEndE-ValueType
Pfam:EF_assoc_2 1 80 1.3e-34 PFAM
Blast:EFh 83 111 2e-10 BLAST
Pfam:EF_assoc_1 116 188 4.3e-33 PFAM
Pfam:Ras 195 331 1.3e-7 PFAM
transmembrane domain 409 431 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.1%
  • 20x: 97.2%
Validation Efficiency 100% (65/65)
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele die neonatally exhibiting cyanosis, respiratory failure, loss of brainstem cranial motor neurons, decreased cervical motor neuron number and phrenic nerve branching, and alterations in retrograde mitochondrial transport and run length in cortical axons. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A T 3: 137,773,811 (GRCm39) Y1000F probably damaging Het
1700018B08Rik A G 8: 122,262,160 (GRCm39) probably null Het
Aadat T C 8: 60,982,467 (GRCm39) F245L probably damaging Het
Adcy10 T G 1: 165,403,227 (GRCm39) L1575W probably damaging Het
Anks4b A T 7: 119,782,231 (GRCm39) T421S probably damaging Het
Anpep A T 7: 79,475,097 (GRCm39) I155N probably damaging Het
Arnt T C 3: 95,397,932 (GRCm39) F572L probably damaging Het
Brip1 G A 11: 86,039,362 (GRCm39) Q391* probably null Het
Brpf3 C A 17: 29,042,970 (GRCm39) H1004N probably benign Het
Cand2 T A 6: 115,768,250 (GRCm39) V465D possibly damaging Het
Card10 G T 15: 78,686,609 (GRCm39) Y69* probably null Het
Catsperd A T 17: 56,962,175 (GRCm39) K450* probably null Het
Ccdc137 T C 11: 120,351,009 (GRCm39) L137P probably damaging Het
Cic T C 7: 24,990,107 (GRCm39) S1905P probably damaging Het
Csmd3 C T 15: 47,507,601 (GRCm39) G2971S probably damaging Het
Dmxl2 A G 9: 54,379,496 (GRCm39) Y183H probably damaging Het
Drosha T C 15: 12,834,396 (GRCm39) Y167H unknown Het
E330034G19Rik A G 14: 24,358,310 (GRCm39) K214R unknown Het
Fam180a T G 6: 35,290,765 (GRCm39) I73L possibly damaging Het
Fbxo28 G T 1: 182,168,986 (GRCm39) H51N probably benign Het
Gm12728 T G 4: 105,647,533 (GRCm39) probably null Het
Gm973 T C 1: 59,591,620 (GRCm39) C335R possibly damaging Het
Gpx8 A G 13: 113,179,770 (GRCm39) V177A probably damaging Het
Hdlbp A G 1: 93,340,083 (GRCm39) probably null Het
Htt T G 5: 35,034,444 (GRCm39) Y1972D probably null Het
Igkv6-14 T C 6: 70,412,116 (GRCm39) Y56C possibly damaging Het
Kcnma1 A G 14: 23,576,602 (GRCm39) probably null Het
Klc1 T C 12: 111,754,019 (GRCm39) S105P probably damaging Het
Klhl20 T C 1: 160,921,266 (GRCm39) D63G possibly damaging Het
Lamc3 A G 2: 31,798,701 (GRCm39) D469G probably damaging Het
Lrit1 G C 14: 36,782,052 (GRCm39) V242L probably damaging Het
Mboat4 G A 8: 34,591,865 (GRCm39) R434H probably benign Het
Mttp T C 3: 137,821,043 (GRCm39) K270E possibly damaging Het
Muc5ac G A 7: 141,347,035 (GRCm39) C337Y possibly damaging Het
Nars1 A G 18: 64,634,471 (GRCm39) V484A probably damaging Het
Noxa1 G T 2: 24,981,844 (GRCm39) probably null Het
Or14c45 A G 7: 86,176,522 (GRCm39) T186A probably benign Het
Or7g18 T A 9: 18,786,821 (GRCm39) L63H probably damaging Het
Osbpl7 G A 11: 96,941,584 (GRCm39) G36S probably damaging Het
P4htm C T 9: 108,460,812 (GRCm39) G220D probably benign Het
Pcdhga7 A G 18: 37,848,199 (GRCm39) I69V probably benign Het
Pla2g4e C T 2: 120,015,795 (GRCm39) E250K possibly damaging Het
Plcd4 A G 1: 74,604,994 (GRCm39) probably benign Het
Ppfia3 C A 7: 45,008,231 (GRCm39) G213V possibly damaging Het
Ppp1r1a A G 15: 103,441,513 (GRCm39) S67P probably damaging Het
Prss43 T C 9: 110,657,680 (GRCm39) F193S probably benign Het
Rfx1 A G 8: 84,822,117 (GRCm39) Y872C probably damaging Het
Sall1 A G 8: 89,757,021 (GRCm39) F1028L probably damaging Het
Siglec1 G A 2: 130,919,997 (GRCm39) Q845* probably null Het
Slc38a9 C T 13: 112,838,060 (GRCm39) T275I possibly damaging Het
Slc39a4 A T 15: 76,497,470 (GRCm39) S481T probably damaging Het
Ssr1 A T 13: 38,169,998 (GRCm39) N191K probably damaging Het
Tenm4 A T 7: 96,544,757 (GRCm39) S2258C probably damaging Het
Tm7sf3 T G 6: 146,507,645 (GRCm39) R472S possibly damaging Het
Tmprss11a G A 5: 86,576,494 (GRCm39) T119M probably benign Het
Traip C T 9: 107,838,240 (GRCm39) R142* probably null Het
Utrn T C 10: 12,626,214 (GRCm39) N100D probably damaging Het
Vmn1r74 T C 7: 11,581,575 (GRCm39) S292P probably benign Het
Vmn2r71 A T 7: 85,273,108 (GRCm39) I641F probably damaging Het
Vmn2r9 T A 5: 108,996,912 (GRCm39) Y119F possibly damaging Het
Vmn2r98 A G 17: 19,285,510 (GRCm39) N110S probably damaging Het
Vwce A G 19: 10,642,057 (GRCm39) T928A probably benign Het
Zfp608 T A 18: 55,121,337 (GRCm39) K83N probably damaging Het
Zfp808 A G 13: 62,320,982 (GRCm39) H737R probably benign Het
Zswim4 T C 8: 84,940,714 (GRCm39) N795S probably benign Het
Other mutations in Rhot1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00807:Rhot1 APN 11 80,116,928 (GRCm39) missense probably benign 0.27
IGL01335:Rhot1 APN 11 80,141,055 (GRCm39) missense probably damaging 1.00
IGL01631:Rhot1 APN 11 80,156,600 (GRCm39) missense probably damaging 1.00
IGL03009:Rhot1 APN 11 80,111,080 (GRCm39) splice site probably null
IGL03106:Rhot1 APN 11 80,133,407 (GRCm39) nonsense probably null
R0554:Rhot1 UTSW 11 80,134,264 (GRCm39) nonsense probably null
R0720:Rhot1 UTSW 11 80,114,769 (GRCm39) missense probably damaging 1.00
R1319:Rhot1 UTSW 11 80,136,847 (GRCm39) missense probably damaging 0.98
R3825:Rhot1 UTSW 11 80,116,907 (GRCm39) missense probably damaging 0.98
R4713:Rhot1 UTSW 11 80,116,428 (GRCm39) missense probably benign 0.00
R4917:Rhot1 UTSW 11 80,100,027 (GRCm39) utr 5 prime probably benign
R4971:Rhot1 UTSW 11 80,124,300 (GRCm39) missense probably damaging 1.00
R5159:Rhot1 UTSW 11 80,111,098 (GRCm39) missense probably damaging 1.00
R5177:Rhot1 UTSW 11 80,137,592 (GRCm39) missense possibly damaging 0.90
R5231:Rhot1 UTSW 11 80,118,160 (GRCm39) critical splice donor site probably null
R5659:Rhot1 UTSW 11 80,141,181 (GRCm39) splice site probably null
R5941:Rhot1 UTSW 11 80,141,996 (GRCm39) intron probably benign
R6216:Rhot1 UTSW 11 80,141,885 (GRCm39) missense probably benign 0.00
R6984:Rhot1 UTSW 11 80,124,310 (GRCm39) nonsense probably null
R7199:Rhot1 UTSW 11 80,137,560 (GRCm39) missense probably damaging 1.00
R7383:Rhot1 UTSW 11 80,114,760 (GRCm39) missense probably damaging 1.00
R7453:Rhot1 UTSW 11 80,139,366 (GRCm39) critical splice donor site probably null
R7922:Rhot1 UTSW 11 80,156,629 (GRCm39) missense probably benign 0.01
R7996:Rhot1 UTSW 11 80,148,363 (GRCm39) missense probably damaging 1.00
R8116:Rhot1 UTSW 11 80,141,879 (GRCm39) missense probably benign 0.00
R8298:Rhot1 UTSW 11 80,137,502 (GRCm39) missense probably benign 0.01
R8322:Rhot1 UTSW 11 80,148,386 (GRCm39) missense possibly damaging 0.95
R8371:Rhot1 UTSW 11 80,134,292 (GRCm39) missense probably damaging 1.00
R8408:Rhot1 UTSW 11 80,114,786 (GRCm39) missense probably damaging 1.00
R9155:Rhot1 UTSW 11 80,148,380 (GRCm39) missense probably null 0.59
R9338:Rhot1 UTSW 11 80,145,568 (GRCm39) missense probably benign 0.08
Z1176:Rhot1 UTSW 11 80,133,447 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- ACCTCCATGTTCAGACTCCG -3'
(R):5'- AAGCCTCCATTCCTAGGACTAAG -3'

Sequencing Primer
(F):5'- TCCATGTTCAGACTCCGTACTAAAC -3'
(R):5'- ACTAAGAGGCTTTTTATATCCTGGG -3'
Posted On 2018-11-06