Incidental Mutation 'R7122:Iqsec3'
ID 552071
Institutional Source Beutler Lab
Gene Symbol Iqsec3
Ensembl Gene ENSMUSG00000040797
Gene Name IQ motif and Sec7 domain 3
Synonyms BRAG3, synarfGEF
MMRRC Submission 045245-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7122 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 121349892-121450637 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 121450317 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 69 (V69G)
Ref Sequence ENSEMBL: ENSMUSP00000038653 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046373] [ENSMUST00000129815] [ENSMUST00000151397] [ENSMUST00000152103]
AlphaFold Q3TES0
Predicted Effect unknown
Transcript: ENSMUST00000046373
AA Change: V69G
SMART Domains Protein: ENSMUSP00000038653
Gene: ENSMUSG00000040797
AA Change: V69G

DomainStartEndE-ValueType
coiled coil region 20 56 N/A INTRINSIC
low complexity region 57 95 N/A INTRINSIC
Blast:Sec7 285 354 5e-16 BLAST
low complexity region 367 386 N/A INTRINSIC
Blast:Sec7 476 507 2e-9 BLAST
low complexity region 508 531 N/A INTRINSIC
low complexity region 542 594 N/A INTRINSIC
low complexity region 598 628 N/A INTRINSIC
Sec7 652 843 9.53e-89 SMART
PH 874 985 4.03e0 SMART
low complexity region 1065 1105 N/A INTRINSIC
low complexity region 1126 1144 N/A INTRINSIC
low complexity region 1160 1178 N/A INTRINSIC
low complexity region 1182 1194 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000129815
AA Change: V69G

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000120847
Gene: ENSMUSG00000040797
AA Change: V69G

DomainStartEndE-ValueType
coiled coil region 20 56 N/A INTRINSIC
low complexity region 57 95 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000151397
AA Change: V69G
SMART Domains Protein: ENSMUSP00000145523
Gene: ENSMUSG00000040797
AA Change: V69G

DomainStartEndE-ValueType
coiled coil region 20 56 N/A INTRINSIC
low complexity region 57 95 N/A INTRINSIC
Blast:Sec7 288 354 2e-16 BLAST
low complexity region 367 386 N/A INTRINSIC
Blast:Sec7 476 507 9e-10 BLAST
low complexity region 508 531 N/A INTRINSIC
low complexity region 542 594 N/A INTRINSIC
low complexity region 598 628 N/A INTRINSIC
Pfam:Sec7 655 722 6.9e-11 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000152103
AA Change: V69G

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000116317
Gene: ENSMUSG00000040797
AA Change: V69G

DomainStartEndE-ValueType
coiled coil region 20 56 N/A INTRINSIC
low complexity region 57 95 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 99% (75/76)
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c20 T A 13: 4,561,275 (GRCm39) E126V probably benign Het
Alg3 A T 16: 20,426,602 (GRCm39) L213H probably damaging Het
Atp1a4 T A 1: 172,059,503 (GRCm39) Y863F possibly damaging Het
Atp6v0e A G 17: 26,914,390 (GRCm39) T72A probably benign Het
Aup1 A G 6: 83,032,123 (GRCm39) T97A probably benign Het
Bcl6 T C 16: 23,791,652 (GRCm39) D234G probably damaging Het
Cdc42bpa T C 1: 179,892,583 (GRCm39) L249P probably damaging Het
Celsr3 A G 9: 108,705,766 (GRCm39) K750E possibly damaging Het
Ces1g C A 8: 94,043,665 (GRCm39) G425C possibly damaging Het
Chl1 T C 6: 103,683,409 (GRCm39) L745P probably damaging Het
Csmd2 G A 4: 128,343,020 (GRCm39) V1471M Het
Dnah12 G A 14: 26,500,869 (GRCm39) probably null Het
E4f1 G A 17: 24,663,808 (GRCm39) Q569* probably null Het
Efcab3 A T 11: 104,899,787 (GRCm39) I4350F possibly damaging Het
Fbxw24 A T 9: 109,430,328 (GRCm39) C439S probably benign Het
Ftdc2 C A 16: 58,458,140 (GRCm39) A54S probably benign Het
Gmip C T 8: 70,270,452 (GRCm39) P721S probably benign Het
Grip1 A G 10: 119,871,279 (GRCm39) I669V possibly damaging Het
Gsn A T 2: 35,185,061 (GRCm39) K339* probably null Het
Herc1 G T 9: 66,307,056 (GRCm39) A959S possibly damaging Het
Hic1 A G 11: 75,060,056 (GRCm39) V97A probably benign Het
Il11ra1 A G 4: 41,766,189 (GRCm39) Y242C probably damaging Het
Jak3 T A 8: 72,138,601 (GRCm39) M933K probably damaging Het
Kbtbd7 G A 14: 79,665,757 (GRCm39) V530I probably damaging Het
Kif22 G A 7: 126,632,150 (GRCm39) R345C probably benign Het
Klhl7 G A 5: 24,343,433 (GRCm39) E250K probably damaging Het
Klk1b4 A G 7: 43,860,531 (GRCm39) H183R probably damaging Het
Lhfpl4 C T 6: 113,153,632 (GRCm39) V140I probably benign Het
Lhx5 T A 5: 120,574,410 (GRCm39) M238K probably benign Het
Lin28b A T 10: 45,345,244 (GRCm39) H27Q probably benign Het
Mgat4c A T 10: 102,214,070 (GRCm39) R18* probably null Het
Myct1 C A 10: 5,554,492 (GRCm39) H120N probably damaging Het
Nek1 A T 8: 61,559,829 (GRCm39) D984V probably benign Het
Nfu1 A T 6: 86,986,863 (GRCm39) probably benign Het
Nipsnap1 A T 11: 4,833,366 (GRCm39) probably null Het
Nlrp9c A G 7: 26,085,046 (GRCm39) Y178H probably damaging Het
Nrxn3 T A 12: 89,477,377 (GRCm39) M520K probably damaging Het
Oacyl A G 18: 65,853,323 (GRCm39) D143G probably benign Het
Obox5 A G 7: 15,492,732 (GRCm39) Y229C probably damaging Het
Or1j12 A G 2: 36,342,702 (GRCm39) Y35C probably damaging Het
Or1j18 G A 2: 36,624,436 (GRCm39) M34I probably benign Het
Or2a5 T C 6: 42,874,024 (GRCm39) V213A probably damaging Het
Or52n5 T C 7: 104,588,405 (GRCm39) L224P probably damaging Het
Otogl C T 10: 107,702,515 (GRCm39) A713T probably benign Het
Pcdhb17 A C 18: 37,619,566 (GRCm39) N452T probably benign Het
Pi16 A G 17: 29,545,313 (GRCm39) Y192C probably damaging Het
Pla2g5 T C 4: 138,531,830 (GRCm39) D58G probably damaging Het
Plpp4 G T 7: 128,981,207 (GRCm39) V153F unknown Het
Plxna2 C A 1: 194,326,876 (GRCm39) S270* probably null Het
Pole T A 5: 110,472,968 (GRCm39) probably null Het
Prmt7 T C 8: 106,961,732 (GRCm39) F215S unknown Het
Ptpn21 C T 12: 98,655,171 (GRCm39) V599I probably damaging Het
Rab26 C A 17: 24,749,652 (GRCm39) R131L probably damaging Het
Raph1 A T 1: 60,565,136 (GRCm39) V117D probably benign Het
Sacs T C 14: 61,447,845 (GRCm39) V3297A probably damaging Het
Serpine1 C A 5: 137,095,796 (GRCm39) A262S probably benign Het
Sgf29 A G 7: 126,271,221 (GRCm39) D193G probably null Het
Sh3rf2 G A 18: 42,237,227 (GRCm39) probably null Het
Sipa1l1 T C 12: 82,469,236 (GRCm39) V1245A possibly damaging Het
Slc22a7 A G 17: 46,749,224 (GRCm39) L31P probably damaging Het
Slc24a5 G A 2: 124,930,111 (GRCm39) V471I probably benign Het
Slc26a7 A T 4: 14,533,639 (GRCm39) Y395N probably damaging Het
Slc38a2 T C 15: 96,591,182 (GRCm39) M229V probably damaging Het
Sorbs1 G C 19: 40,365,244 (GRCm39) R180G probably benign Het
Susd1 G A 4: 59,411,318 (GRCm39) R225* probably null Het
Suz12 T A 11: 79,884,419 (GRCm39) F92I probably damaging Het
Tmem114 C A 16: 8,242,610 (GRCm39) probably benign Het
Tmem68 A G 4: 3,564,107 (GRCm39) V159A probably benign Het
Tpra1 T A 6: 88,885,276 (GRCm39) I76N probably damaging Het
Trim45 A G 3: 100,839,353 (GRCm39) T752A unknown Het
Trp63 C A 16: 25,639,227 (GRCm39) H138Q probably damaging Het
Ugt2a2 T C 5: 87,608,255 (GRCm39) D528G possibly damaging Het
Vmn2r39 T G 7: 9,017,761 (GRCm39) K858N possibly damaging Het
Zfp629 A T 7: 127,210,484 (GRCm39) S442T probably damaging Het
Other mutations in Iqsec3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01349:Iqsec3 APN 6 121,450,083 (GRCm39) missense possibly damaging 0.90
IGL01615:Iqsec3 APN 6 121,387,580 (GRCm39) missense probably damaging 1.00
IGL01728:Iqsec3 APN 6 121,389,623 (GRCm39) utr 3 prime probably benign
IGL01935:Iqsec3 APN 6 121,360,951 (GRCm39) missense probably damaging 1.00
IGL02146:Iqsec3 APN 6 121,360,916 (GRCm39) missense probably damaging 0.99
IGL02369:Iqsec3 APN 6 121,389,893 (GRCm39) utr 3 prime probably benign
IGL02684:Iqsec3 APN 6 121,389,900 (GRCm39) nonsense probably null
IGL03180:Iqsec3 APN 6 121,390,467 (GRCm39) utr 3 prime probably benign
R0032:Iqsec3 UTSW 6 121,450,089 (GRCm39) missense possibly damaging 0.71
R0088:Iqsec3 UTSW 6 121,450,248 (GRCm39) missense probably damaging 0.97
R0189:Iqsec3 UTSW 6 121,390,521 (GRCm39) utr 3 prime probably benign
R0193:Iqsec3 UTSW 6 121,387,683 (GRCm39) missense probably damaging 1.00
R0528:Iqsec3 UTSW 6 121,389,743 (GRCm39) utr 3 prime probably benign
R1885:Iqsec3 UTSW 6 121,405,326 (GRCm39) intron probably benign
R2698:Iqsec3 UTSW 6 121,390,430 (GRCm39) utr 3 prime probably benign
R3751:Iqsec3 UTSW 6 121,353,214 (GRCm39) missense probably benign 0.19
R3753:Iqsec3 UTSW 6 121,353,214 (GRCm39) missense probably benign 0.19
R3947:Iqsec3 UTSW 6 121,364,783 (GRCm39) nonsense probably null
R3948:Iqsec3 UTSW 6 121,364,783 (GRCm39) nonsense probably null
R3949:Iqsec3 UTSW 6 121,364,783 (GRCm39) nonsense probably null
R4006:Iqsec3 UTSW 6 121,353,187 (GRCm39) missense probably damaging 1.00
R4007:Iqsec3 UTSW 6 121,353,187 (GRCm39) missense probably damaging 1.00
R4210:Iqsec3 UTSW 6 121,389,999 (GRCm39) utr 3 prime probably benign
R4535:Iqsec3 UTSW 6 121,356,977 (GRCm39) missense possibly damaging 0.80
R4567:Iqsec3 UTSW 6 121,364,721 (GRCm39) missense probably damaging 1.00
R5096:Iqsec3 UTSW 6 121,363,657 (GRCm39) missense probably damaging 1.00
R5135:Iqsec3 UTSW 6 121,360,878 (GRCm39) missense probably damaging 1.00
R5289:Iqsec3 UTSW 6 121,363,659 (GRCm39) critical splice acceptor site probably null
R5537:Iqsec3 UTSW 6 121,389,603 (GRCm39) utr 3 prime probably benign
R6555:Iqsec3 UTSW 6 121,361,178 (GRCm39) missense probably damaging 1.00
R6942:Iqsec3 UTSW 6 121,450,062 (GRCm39) missense probably damaging 1.00
R7372:Iqsec3 UTSW 6 121,360,991 (GRCm39) nonsense probably null
R7394:Iqsec3 UTSW 6 121,363,569 (GRCm39) missense possibly damaging 0.47
R7559:Iqsec3 UTSW 6 121,364,739 (GRCm39) missense probably damaging 1.00
R7729:Iqsec3 UTSW 6 121,360,940 (GRCm39) missense probably damaging 1.00
R7815:Iqsec3 UTSW 6 121,450,317 (GRCm39) missense probably benign 0.17
R8114:Iqsec3 UTSW 6 121,390,458 (GRCm39) missense unknown
R8115:Iqsec3 UTSW 6 121,449,989 (GRCm39) missense unknown
R8197:Iqsec3 UTSW 6 121,389,971 (GRCm39) missense unknown
R8353:Iqsec3 UTSW 6 121,364,779 (GRCm39) missense probably damaging 1.00
R8453:Iqsec3 UTSW 6 121,364,779 (GRCm39) missense probably damaging 1.00
R8467:Iqsec3 UTSW 6 121,358,676 (GRCm39) missense probably benign 0.28
R8500:Iqsec3 UTSW 6 121,389,813 (GRCm39) utr 3 prime probably benign
R8514:Iqsec3 UTSW 6 121,390,521 (GRCm39) missense unknown
R8890:Iqsec3 UTSW 6 121,389,515 (GRCm39) missense probably damaging 1.00
R8909:Iqsec3 UTSW 6 121,390,118 (GRCm39) missense unknown
R8970:Iqsec3 UTSW 6 121,366,528 (GRCm39) missense probably damaging 1.00
R8993:Iqsec3 UTSW 6 121,390,272 (GRCm39) missense unknown
R9012:Iqsec3 UTSW 6 121,389,996 (GRCm39) missense unknown
R9534:Iqsec3 UTSW 6 121,367,077 (GRCm39) missense possibly damaging 0.80
Predicted Primers PCR Primer
(F):5'- ACAGTGCTCAAGTCCTTCAC -3'
(R):5'- TCTACCTCAAGGAGCTCACG -3'

Sequencing Primer
(F):5'- ACTGAGGAGTCTGAACCCTG -3'
(R):5'- TCAAGGAGCTCACGGCCATC -3'
Posted On 2019-05-15