Incidental Mutation 'R1823:Plekhg1'
ID 206582
Institutional Source Beutler Lab
Gene Symbol Plekhg1
Ensembl Gene ENSMUSG00000040624
Gene Name pleckstrin homology domain containing, family G (with RhoGef domain) member 1
Synonyms D10Ertd733e
MMRRC Submission 039851-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.252) question?
Stock # R1823 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 3690364-3917303 bp(+) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to T at 3853658 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000042438] [ENSMUST00000042438] [ENSMUST00000120274] [ENSMUST00000120274]
AlphaFold A0A5F8MPP0
Predicted Effect probably null
Transcript: ENSMUST00000042438
SMART Domains Protein: ENSMUSP00000040495
Gene: ENSMUSG00000040624

DomainStartEndE-ValueType
low complexity region 11 30 N/A INTRINSIC
RhoGEF 116 291 4.17e-52 SMART
PH 323 417 2.54e-6 SMART
low complexity region 419 431 N/A INTRINSIC
low complexity region 1151 1162 N/A INTRINSIC
low complexity region 1186 1197 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000042438
SMART Domains Protein: ENSMUSP00000040495
Gene: ENSMUSG00000040624

DomainStartEndE-ValueType
low complexity region 11 30 N/A INTRINSIC
RhoGEF 116 291 4.17e-52 SMART
PH 323 417 2.54e-6 SMART
low complexity region 419 431 N/A INTRINSIC
low complexity region 1151 1162 N/A INTRINSIC
low complexity region 1186 1197 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000120274
SMART Domains Protein: ENSMUSP00000114056
Gene: ENSMUSG00000040624

DomainStartEndE-ValueType
low complexity region 11 30 N/A INTRINSIC
RhoGEF 116 291 4.17e-52 SMART
PH 323 417 2.54e-6 SMART
low complexity region 419 431 N/A INTRINSIC
low complexity region 1151 1162 N/A INTRINSIC
low complexity region 1186 1197 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000120274
SMART Domains Protein: ENSMUSP00000114056
Gene: ENSMUSG00000040624

DomainStartEndE-ValueType
low complexity region 11 30 N/A INTRINSIC
RhoGEF 116 291 4.17e-52 SMART
PH 323 417 2.54e-6 SMART
low complexity region 419 431 N/A INTRINSIC
low complexity region 1151 1162 N/A INTRINSIC
low complexity region 1186 1197 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131525
Predicted Effect probably null
Transcript: ENSMUST00000136671
SMART Domains Protein: ENSMUSP00000119950
Gene: ENSMUSG00000040624

DomainStartEndE-ValueType
low complexity region 67 86 N/A INTRINSIC
RhoGEF 172 347 4.17e-52 SMART
PH 379 473 2.54e-6 SMART
low complexity region 475 487 N/A INTRINSIC
low complexity region 1207 1218 N/A INTRINSIC
low complexity region 1242 1253 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137111
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144543
Predicted Effect probably null
Transcript: ENSMUST00000154727
SMART Domains Protein: ENSMUSP00000122131
Gene: ENSMUSG00000040624

DomainStartEndE-ValueType
RhoGEF 4 146 2.25e-25 SMART
PH 178 272 2.54e-6 SMART
low complexity region 274 286 N/A INTRINSIC
low complexity region 1006 1017 N/A INTRINSIC
low complexity region 1041 1052 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000154727
SMART Domains Protein: ENSMUSP00000122131
Gene: ENSMUSG00000040624

DomainStartEndE-ValueType
RhoGEF 4 146 2.25e-25 SMART
PH 178 272 2.54e-6 SMART
low complexity region 274 286 N/A INTRINSIC
low complexity region 1006 1017 N/A INTRINSIC
low complexity region 1041 1052 N/A INTRINSIC
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.1%
  • 20x: 91.6%
Validation Efficiency 98% (87/89)
Allele List at MGI

All alleles(13) : Targeted(2) Gene trapped(11)

Other mutations in this stock
Total: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy1 G A 11: 7,111,312 (GRCm39) V868I probably benign Het
Ahnak G T 19: 8,982,269 (GRCm39) M1184I probably damaging Het
Akap11 T C 14: 78,748,928 (GRCm39) E1153G probably damaging Het
Amy1 T C 3: 113,356,376 (GRCm39) N260S probably null Het
Ankrd6 A G 4: 32,824,427 (GRCm39) L129P probably damaging Het
Aox1 A T 1: 58,351,518 (GRCm39) T702S probably benign Het
Apobec1 G T 6: 122,555,845 (GRCm39) T204K possibly damaging Het
Arhgef19 A G 4: 140,976,457 (GRCm39) R433G probably benign Het
Atf6b T A 17: 34,867,618 (GRCm39) H110Q possibly damaging Het
Btnl4 C T 17: 34,694,826 (GRCm39) probably null Het
Camsap2 T C 1: 136,201,521 (GRCm39) T662A possibly damaging Het
Cbs G A 17: 31,843,245 (GRCm39) H229Y probably damaging Het
Cct8 G A 16: 87,287,442 (GRCm39) R111* probably null Het
Cdc42bpb C T 12: 111,293,993 (GRCm39) A250T probably damaging Het
Chrd A G 16: 20,560,097 (GRCm39) probably benign Het
Ckap2l A G 2: 129,117,499 (GRCm39) F559L probably damaging Het
Cltrn A G X: 162,901,230 (GRCm39) D184G possibly damaging Het
D630003M21Rik T C 2: 158,059,477 (GRCm39) Y141C probably damaging Het
Dbf4 T C 5: 8,447,539 (GRCm39) N557S probably benign Het
Dct T G 14: 118,273,935 (GRCm39) N324T probably benign Het
Dip2a A T 10: 76,114,336 (GRCm39) L999* probably null Het
Dock10 T A 1: 80,520,814 (GRCm39) probably null Het
Dync2li1 A T 17: 84,957,225 (GRCm39) D330V probably damaging Het
Eif4g3 T A 4: 137,907,802 (GRCm39) D1267E probably benign Het
Enc1 A G 13: 97,382,486 (GRCm39) E332G possibly damaging Het
Fat2 C T 11: 55,147,606 (GRCm39) V3879I probably benign Het
Fh1 A T 1: 175,444,114 (GRCm39) I117K probably damaging Het
Fkbp15 A G 4: 62,255,328 (GRCm39) L227P probably damaging Het
Fpr1 T A 17: 18,097,315 (GRCm39) M225L probably benign Het
Fras1 A T 5: 96,918,547 (GRCm39) I3528F probably damaging Het
Grm7 A G 6: 111,184,730 (GRCm39) T354A probably benign Het
Ift27 T A 15: 78,057,978 (GRCm39) I9F possibly damaging Het
Igf1r A G 7: 67,844,729 (GRCm39) D834G possibly damaging Het
Igsf9b T A 9: 27,243,028 (GRCm39) L738Q probably damaging Het
Itgam A T 7: 127,663,904 (GRCm39) T44S probably benign Het
Ivd T A 2: 118,692,515 (GRCm39) I5N probably benign Het
Jcad T C 18: 4,675,780 (GRCm39) S1181P probably damaging Het
Kctd18 A G 1: 57,995,524 (GRCm39) V251A probably benign Het
Mycbp2 A G 14: 103,489,945 (GRCm39) V953A possibly damaging Het
Myo18a T C 11: 77,715,923 (GRCm39) probably benign Het
Myo3a A T 2: 22,345,091 (GRCm39) Y509F probably damaging Het
Myocd C A 11: 65,069,496 (GRCm39) M909I probably benign Het
Ndufv3 G A 17: 31,750,219 (GRCm39) R467Q probably damaging Het
Nkpd1 G A 7: 19,257,177 (GRCm39) V319M probably damaging Het
Or13p4 T A 4: 118,547,389 (GRCm39) N87Y probably damaging Het
Or1af1 T C 2: 37,110,344 (GRCm39) V281A probably damaging Het
Or1p1c C T 11: 74,161,043 (GRCm39) A276V probably damaging Het
Or2q1 G T 6: 42,795,202 (GRCm39) A266S possibly damaging Het
Or2t1 T A 14: 14,328,774 (GRCm38) L221Q probably damaging Het
Or4c111 A G 2: 88,843,722 (GRCm39) S229P probably benign Het
Or5b101 C A 19: 13,005,181 (GRCm39) V171L probably benign Het
Parp4 T C 14: 56,827,329 (GRCm39) probably benign Het
Pcdhb9 A G 18: 37,535,871 (GRCm39) T622A probably benign Het
Pdpk1 A T 17: 24,317,150 (GRCm39) probably benign Het
Pkhd1 C A 1: 20,417,681 (GRCm39) G2490V probably damaging Het
Plekhh2 A G 17: 84,882,617 (GRCm39) Y708C probably damaging Het
Pnp T C 14: 51,187,786 (GRCm39) F107L probably damaging Het
Postn T A 3: 54,292,708 (GRCm39) probably null Het
Prcp A T 7: 92,577,883 (GRCm39) D349V probably damaging Het
Prl3a1 A T 13: 27,454,177 (GRCm39) I52F probably damaging Het
Pym1 G A 10: 128,601,913 (GRCm39) probably benign Het
Rad9a A T 19: 4,247,241 (GRCm39) I248N probably damaging Het
Ror2 T G 13: 53,264,341 (GRCm39) E917A probably benign Het
Rsf1 G A 7: 97,229,117 (GRCm39) probably benign Het
Sema6d A G 2: 124,501,476 (GRCm39) probably null Het
Shisal1 T C 15: 84,290,669 (GRCm39) T213A probably benign Het
Slc4a2 C T 5: 24,632,618 (GRCm39) A12V probably damaging Het
Slco6b1 T G 1: 96,888,901 (GRCm39) noncoding transcript Het
Slf2 A T 19: 44,923,687 (GRCm39) H167L possibly damaging Het
Snx9 G T 17: 5,970,946 (GRCm39) G429V probably damaging Het
Sod3 G T 5: 52,525,504 (GRCm39) V68L probably benign Het
Spta1 T A 1: 174,074,115 (GRCm39) D2351E probably benign Het
Srpk3 G A X: 72,821,561 (GRCm39) R425Q possibly damaging Het
Tatdn1 C T 15: 58,788,005 (GRCm39) G171E probably damaging Het
Tbc1d22a T C 15: 86,119,770 (GRCm39) V22A possibly damaging Het
Tnfsf9 A G 17: 57,412,738 (GRCm39) T103A probably benign Het
Tpm3-rs7 T C 14: 113,552,595 (GRCm39) L163P possibly damaging Het
Trim52 T A 14: 106,344,401 (GRCm39) C20S probably damaging Het
Ucp1 C T 8: 84,020,661 (GRCm39) T157I probably damaging Het
Uspl1 T A 5: 149,151,224 (GRCm39) L794Q probably benign Het
Vmn1r5 T A 6: 56,962,580 (GRCm39) V85E probably damaging Het
Vmn1r58 A G 7: 5,413,405 (GRCm39) I275T possibly damaging Het
Vmn2r79 A G 7: 86,687,080 (GRCm39) I820M probably damaging Het
Wscd1 C A 11: 71,651,044 (GRCm39) P124T probably benign Het
Zfp780b A T 7: 27,662,525 (GRCm39) C677S possibly damaging Het
Other mutations in Plekhg1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01589:Plekhg1 APN 10 3,913,631 (GRCm39) missense probably benign 0.02
IGL01639:Plekhg1 APN 10 3,906,751 (GRCm39) missense probably damaging 0.98
IGL01766:Plekhg1 APN 10 3,823,400 (GRCm39) missense probably damaging 1.00
IGL01983:Plekhg1 APN 10 3,895,904 (GRCm39) missense probably damaging 1.00
IGL02226:Plekhg1 APN 10 3,895,916 (GRCm39) missense probably damaging 0.99
IGL02420:Plekhg1 APN 10 3,914,106 (GRCm39) missense probably damaging 1.00
IGL02441:Plekhg1 APN 10 3,908,103 (GRCm39) missense possibly damaging 0.89
IGL02505:Plekhg1 APN 10 3,907,139 (GRCm39) missense probably damaging 0.97
IGL02659:Plekhg1 APN 10 3,907,069 (GRCm39) nonsense probably null
IGL02730:Plekhg1 APN 10 3,823,242 (GRCm39) missense possibly damaging 0.59
BB006:Plekhg1 UTSW 10 3,869,170 (GRCm39) missense probably damaging 0.99
BB016:Plekhg1 UTSW 10 3,869,170 (GRCm39) missense probably damaging 0.99
PIT4453001:Plekhg1 UTSW 10 3,913,469 (GRCm39) missense
R0041:Plekhg1 UTSW 10 3,914,076 (GRCm39) nonsense probably null
R0041:Plekhg1 UTSW 10 3,914,074 (GRCm39) missense probably benign 0.02
R0068:Plekhg1 UTSW 10 3,890,504 (GRCm39) nonsense probably null
R0068:Plekhg1 UTSW 10 3,890,502 (GRCm39) missense probably damaging 0.99
R0333:Plekhg1 UTSW 10 3,914,419 (GRCm39) missense probably damaging 1.00
R0427:Plekhg1 UTSW 10 3,914,235 (GRCm39) missense probably benign 0.01
R0499:Plekhg1 UTSW 10 3,887,971 (GRCm39) missense probably damaging 1.00
R0504:Plekhg1 UTSW 10 3,887,853 (GRCm39) missense probably damaging 1.00
R1499:Plekhg1 UTSW 10 3,890,538 (GRCm39) splice site probably benign
R1501:Plekhg1 UTSW 10 3,907,361 (GRCm39) missense probably benign 0.02
R1565:Plekhg1 UTSW 10 3,890,526 (GRCm39) missense probably damaging 1.00
R1801:Plekhg1 UTSW 10 3,913,904 (GRCm39) missense probably damaging 1.00
R1858:Plekhg1 UTSW 10 3,895,917 (GRCm39) missense possibly damaging 0.95
R1984:Plekhg1 UTSW 10 3,908,181 (GRCm39) missense probably damaging 1.00
R2420:Plekhg1 UTSW 10 3,908,048 (GRCm39) missense probably benign 0.39
R2421:Plekhg1 UTSW 10 3,908,048 (GRCm39) missense probably benign 0.39
R2422:Plekhg1 UTSW 10 3,908,048 (GRCm39) missense probably benign 0.39
R2437:Plekhg1 UTSW 10 3,913,564 (GRCm39) missense probably damaging 1.00
R2872:Plekhg1 UTSW 10 3,913,982 (GRCm39) missense probably benign
R2872:Plekhg1 UTSW 10 3,913,982 (GRCm39) missense probably benign
R3830:Plekhg1 UTSW 10 3,823,400 (GRCm39) missense probably damaging 1.00
R4058:Plekhg1 UTSW 10 3,907,087 (GRCm39) missense probably damaging 1.00
R4059:Plekhg1 UTSW 10 3,907,087 (GRCm39) missense probably damaging 1.00
R4649:Plekhg1 UTSW 10 3,906,985 (GRCm39) missense probably benign 0.00
R4731:Plekhg1 UTSW 10 3,907,506 (GRCm39) missense probably benign 0.01
R4732:Plekhg1 UTSW 10 3,907,506 (GRCm39) missense probably benign 0.01
R4733:Plekhg1 UTSW 10 3,907,506 (GRCm39) missense probably benign 0.01
R4772:Plekhg1 UTSW 10 3,823,130 (GRCm39) missense probably damaging 1.00
R4772:Plekhg1 UTSW 10 3,823,127 (GRCm39) missense probably benign 0.00
R4803:Plekhg1 UTSW 10 3,907,186 (GRCm39) missense probably benign 0.02
R5086:Plekhg1 UTSW 10 3,853,649 (GRCm39) missense probably damaging 1.00
R5175:Plekhg1 UTSW 10 3,915,516 (GRCm39) unclassified probably benign
R5283:Plekhg1 UTSW 10 3,906,654 (GRCm39) missense probably benign 0.00
R5862:Plekhg1 UTSW 10 3,887,914 (GRCm39) missense probably damaging 1.00
R6163:Plekhg1 UTSW 10 3,914,369 (GRCm39) missense probably damaging 1.00
R6564:Plekhg1 UTSW 10 3,914,153 (GRCm39) missense probably damaging 1.00
R6700:Plekhg1 UTSW 10 3,907,373 (GRCm39) missense probably benign
R6930:Plekhg1 UTSW 10 3,913,770 (GRCm39) missense possibly damaging 0.56
R7033:Plekhg1 UTSW 10 3,890,251 (GRCm39) missense probably damaging 0.97
R7200:Plekhg1 UTSW 10 3,906,810 (GRCm39) missense
R7223:Plekhg1 UTSW 10 3,823,343 (GRCm39) missense
R7353:Plekhg1 UTSW 10 3,914,327 (GRCm39) missense
R7488:Plekhg1 UTSW 10 3,907,491 (GRCm39) missense
R7554:Plekhg1 UTSW 10 3,913,647 (GRCm39) missense
R7929:Plekhg1 UTSW 10 3,869,170 (GRCm39) missense probably damaging 0.99
R8014:Plekhg1 UTSW 10 3,907,758 (GRCm39) missense
R8104:Plekhg1 UTSW 10 3,902,326 (GRCm39) missense
R8167:Plekhg1 UTSW 10 3,907,453 (GRCm39) missense
R8167:Plekhg1 UTSW 10 3,907,452 (GRCm39) missense
R8215:Plekhg1 UTSW 10 3,907,521 (GRCm39) missense
R8263:Plekhg1 UTSW 10 3,907,651 (GRCm39) missense
R8682:Plekhg1 UTSW 10 3,897,523 (GRCm39) missense
R8746:Plekhg1 UTSW 10 3,907,777 (GRCm39) missense
R9148:Plekhg1 UTSW 10 3,907,527 (GRCm39) missense
R9220:Plekhg1 UTSW 10 3,913,805 (GRCm39) missense
R9245:Plekhg1 UTSW 10 3,907,141 (GRCm39) missense
R9520:Plekhg1 UTSW 10 3,906,822 (GRCm39) missense
R9778:Plekhg1 UTSW 10 3,887,966 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- ATAGATGCCAGTGATTCATCTTGC -3'
(R):5'- CTGGAGACCAAGCTAGTGTG -3'

Sequencing Primer
(F):5'- GAATGCATACGGGACCAA -3'
(R):5'- ACCAAGCTAGTGTGATATTTGGATGC -3'
Posted On 2014-06-23