Incidental Mutation 'R9220:Plekhg1'
ID 699410
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
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.252) question?
Stock # R9220 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 3690364-3917303 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 3913805 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 1231 (S1231P)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042438] [ENSMUST00000120274]
AlphaFold A0A5F8MPP0
Predicted Effect probably damaging
Transcript: ENSMUST00000042438
AA Change: S1176P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000040495
Gene: ENSMUSG00000040624
AA Change: S1176P

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 damaging
Transcript: ENSMUST00000120274
AA Change: S1176P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114056
Gene: ENSMUSG00000040624
AA Change: S1176P

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
SMART Domains Protein: ENSMUSP00000119950
Gene: ENSMUSG00000040624
AA Change: S1231P

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 probably benign
Transcript: ENSMUST00000141367
Predicted Effect
SMART Domains Protein: ENSMUSP00000122131
Gene: ENSMUSG00000040624
AA Change: S1030P

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.9%
  • 20x: 99.7%
Validation Efficiency
Allele List at MGI

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

Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acte1 G T 7: 143,434,902 (GRCm39) probably null Het
Afg3l2 T G 18: 67,562,266 (GRCm39) I270L probably benign Het
Akap6 A T 12: 53,187,232 (GRCm39) I1549F possibly damaging Het
Ank2 T C 3: 126,737,086 (GRCm39) T2933A unknown Het
Atp1a3 C A 7: 24,696,625 (GRCm39) E309* probably null Het
B4galt2 T C 4: 117,734,399 (GRCm39) Y250C probably damaging Het
Bcl2l13 C A 6: 120,847,735 (GRCm39) T129K possibly damaging Het
Bltp3b A T 10: 89,626,457 (GRCm39) T384S probably benign Het
Clp1 A T 2: 84,554,076 (GRCm39) H364Q probably damaging Het
Ddx27 T C 2: 166,871,433 (GRCm39) V510A probably benign Het
Dicer1 A G 12: 104,679,415 (GRCm39) C521R probably damaging Het
Dnah10 A T 5: 124,871,437 (GRCm39) I2486F probably benign Het
Eml1 C A 12: 108,480,702 (GRCm39) C389* probably null Het
Fabp6 C T 11: 43,489,572 (GRCm39) G23D probably benign Het
Fam3b A T 16: 97,302,111 (GRCm39) S38T probably benign Het
Fsd1l A T 4: 53,679,799 (GRCm39) K166* probably null Het
Galc A G 12: 98,220,523 (GRCm39) S115P probably damaging Het
Gpn1 G A 5: 31,664,884 (GRCm39) A303T probably benign Het
Grid2 A T 6: 63,885,888 (GRCm39) S95C probably damaging Het
Helz T A 11: 107,560,873 (GRCm39) S1312T probably benign Het
Matn2 T C 15: 34,410,325 (GRCm39) F506L possibly damaging Het
Mcemp1 A G 8: 3,717,512 (GRCm39) S148G probably benign Het
Minar1 T A 9: 89,484,398 (GRCm39) D333V probably damaging Het
Ndrg1 A G 15: 66,805,711 (GRCm39) probably null Het
Nlrp4a A T 7: 26,149,523 (GRCm39) N377Y probably damaging Het
Nox4 C T 7: 86,970,774 (GRCm39) T217I probably benign Het
Or7g21 T C 9: 19,033,193 (GRCm39) F311S possibly damaging Het
Or8b52 A T 9: 38,576,803 (GRCm39) Y112* probably null Het
Phf8-ps T C 17: 33,286,494 (GRCm39) I103V probably benign Het
Plekhd1 T A 12: 80,768,726 (GRCm39) F403Y possibly damaging Het
Plekhg3 T A 12: 76,618,839 (GRCm39) M497K probably benign Het
Rpap1 T C 2: 119,604,669 (GRCm39) H413R probably damaging Het
Rragd A G 4: 32,995,924 (GRCm39) T90A probably damaging Het
Septin9 T C 11: 117,242,396 (GRCm39) M286T probably benign Het
Shpk GACCTTAGCCAGAAGGAGCCTTAGTTCATCAA GA 11: 73,113,996 (GRCm39) probably null Het
Slc22a2 T A 17: 12,838,757 (GRCm39) D528E probably benign Het
Slirp G A 12: 87,494,376 (GRCm39) R47K probably benign Het
Sncg T C 14: 34,096,474 (GRCm39) T22A possibly damaging Het
Tnfrsf21 A G 17: 43,398,801 (GRCm39) S636G probably damaging Het
Unc80 T G 1: 66,546,534 (GRCm39) S535R probably damaging Het
Vmn1r149 A T 7: 22,137,378 (GRCm39) S93T probably benign Het
Vps13d A G 4: 144,783,058 (GRCm39) Y3957H Het
Wdr35 T A 12: 9,036,000 (GRCm39) V257E possibly damaging Het
Wscd1 A G 11: 71,662,750 (GRCm39) T264A probably benign Het
Zfp266 G A 9: 20,413,337 (GRCm39) Q108* probably null Het
Zfp62 T A 11: 49,106,075 (GRCm39) S55R probably benign 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
R1823:Plekhg1 UTSW 10 3,853,658 (GRCm39) critical splice donor site probably null
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
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'- GCAGATTTCTCTCCCCAGAC -3'
(R):5'- GACATGAGTTTGCTAGCCCTG -3'

Sequencing Primer
(F):5'- GATTTCTCTCCCCAGACAGAAC -3'
(R):5'- CCCTGACGGCAAATCCTG -3'
Posted On 2022-02-07