Incidental Mutation 'R2149:1700006A11Rik'
ID 234081
Institutional Source Beutler Lab
Gene Symbol 1700006A11Rik
Ensembl Gene ENSMUSG00000027973
Gene Name RIKEN cDNA 1700006A11 gene
Synonyms
MMRRC Submission 040152-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R2149 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 124194639-124219688 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 124203335 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 414 (E414G)
Ref Sequence ENSEMBL: ENSMUSP00000029598 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029598] [ENSMUST00000198630]
AlphaFold B9EHI3
Predicted Effect probably benign
Transcript: ENSMUST00000029598
AA Change: E414G

PolyPhen 2 Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000029598
Gene: ENSMUSG00000027973
AA Change: E414G

DomainStartEndE-ValueType
RhoGAP 78 251 3.63e-37 SMART
RhoGAP 377 543 3.19e-24 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000082981
Predicted Effect probably benign
Transcript: ENSMUST00000198630
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 C A 1: 71,302,647 (GRCm39) V2191L probably benign Het
Abca13 A G 11: 9,217,508 (GRCm39) T317A possibly damaging Het
Acap3 T G 4: 155,990,082 (GRCm39) L750R probably damaging Het
Anapc7 T A 5: 122,581,889 (GRCm39) S511T probably benign Het
Anp32a T A 9: 62,279,084 (GRCm39) F46Y probably benign Het
Anxa2 TCCC TCC 9: 69,397,036 (GRCm39) probably null Het
Arfgef1 C T 1: 10,270,103 (GRCm39) A349T probably benign Het
Arid2 T C 15: 96,268,716 (GRCm39) I943T probably damaging Het
Armh4 T C 14: 49,989,028 (GRCm39) D647G probably benign Het
Auh G A 13: 52,989,532 (GRCm39) P308L probably benign Het
Btnl6 T C 17: 34,733,321 (GRCm39) N218S possibly damaging Het
Capn11 T C 17: 45,944,033 (GRCm39) probably null Het
Clcnkb C T 4: 141,135,328 (GRCm39) G470D probably damaging Het
Clic6 T A 16: 92,296,095 (GRCm39) S252T probably benign Het
Col28a1 T C 6: 8,155,383 (GRCm39) K318E possibly damaging Het
Col5a3 A T 9: 20,682,566 (GRCm39) V1626D unknown Het
Col6a4 C A 9: 105,954,128 (GRCm39) A404S probably benign Het
Cyp2j5 G T 4: 96,529,577 (GRCm39) H265N possibly damaging Het
Dennd3 A T 15: 73,426,909 (GRCm39) H762L probably benign Het
Dock2 A G 11: 34,179,472 (GRCm39) probably null Het
Ecrg4 A G 1: 43,781,496 (GRCm39) D126G probably damaging Het
Emilin2 T C 17: 71,580,987 (GRCm39) S580G probably benign Het
Fbn2 C A 18: 58,235,397 (GRCm39) probably null Het
Gfm1 T C 3: 67,381,893 (GRCm39) L693P probably damaging Het
Glb1 T C 9: 114,279,716 (GRCm39) Y375H probably damaging Het
Gpha2 A G 19: 6,277,012 (GRCm39) T38A probably damaging Het
Gtf2h3 T C 5: 124,737,848 (GRCm39) probably benign Het
Hmgxb3 T C 18: 61,290,746 (GRCm39) T376A probably benign Het
Hspa12b A G 2: 130,984,977 (GRCm39) D416G probably damaging Het
Immt C T 6: 71,821,659 (GRCm39) R28* probably null Het
Iqgap1 T C 7: 80,412,308 (GRCm39) Y180C probably damaging Het
Kcnq3 T A 15: 65,895,578 (GRCm39) D322V probably damaging Het
Kifc2 C A 15: 76,546,421 (GRCm39) L268I probably benign Het
Lama1 T C 17: 68,080,860 (GRCm39) M1296T possibly damaging Het
Lipk A G 19: 33,999,017 (GRCm39) N104S possibly damaging Het
Lrrc14b T A 13: 74,511,876 (GRCm39) N68I possibly damaging Het
Lrrc28 A T 7: 67,181,430 (GRCm39) D268E probably damaging Het
Ly6c2 T C 15: 74,980,392 (GRCm39) *132W probably null Het
Msh6 A G 17: 88,293,516 (GRCm39) E757G probably damaging Het
Mtss2 T C 8: 111,453,015 (GRCm39) V47A possibly damaging Het
Muc2 CGTG CGTGTG 7: 141,699,185 (GRCm38) probably null Het
Nalcn A T 14: 123,607,429 (GRCm39) I680N probably benign Het
Nup214 C T 2: 31,924,478 (GRCm39) S1669F probably damaging Het
Odr4 A T 1: 150,264,310 (GRCm39) N66K probably benign Het
Oosp2 A T 19: 11,626,978 (GRCm39) L17* probably null Het
Or10a5 A T 7: 106,635,545 (GRCm39) Y61F possibly damaging Het
Or13a28 C T 7: 140,217,965 (GRCm39) T117M probably damaging Het
Or8b48 T C 9: 38,492,804 (GRCm39) V77A probably benign Het
Or9i2 A C 19: 13,815,946 (GRCm39) V197G probably damaging Het
Pacc1 T G 1: 191,077,306 (GRCm39) F210V probably benign Het
Parvb A G 15: 84,116,369 (GRCm39) K33E possibly damaging Het
Pde4dip T A 3: 97,700,152 (GRCm39) Q300L possibly damaging Het
Phf2 T C 13: 48,958,165 (GRCm39) K950E unknown Het
Pira2 G A 7: 3,847,170 (GRCm39) P124L probably damaging Het
Plpp4 C T 7: 128,981,095 (GRCm39) T157I probably benign Het
Polrmt G A 10: 79,576,109 (GRCm39) Q545* probably null Het
Ptprs A G 17: 56,724,706 (GRCm39) F1511L probably damaging Het
Sbno1 T C 5: 124,540,182 (GRCm39) probably null Het
Setd1a T A 7: 127,385,690 (GRCm39) V256D possibly damaging Het
Slamf1 T C 1: 171,594,840 (GRCm39) S16P probably damaging Het
Slc16a14 T C 1: 84,885,120 (GRCm39) D473G probably damaging Het
Slc8a2 A T 7: 15,893,089 (GRCm39) H917L probably damaging Het
Sorbs2 A C 8: 46,248,480 (GRCm39) D442A probably damaging Het
Srp68 G T 11: 116,151,693 (GRCm39) T301K possibly damaging Het
Stab2 A T 10: 86,700,904 (GRCm39) C457* probably null Het
Stk31 T G 6: 49,416,152 (GRCm39) S652R possibly damaging Het
Stra6 T G 9: 58,059,822 (GRCm39) S594R probably benign Het
Tbc1d9 G A 8: 83,998,078 (GRCm39) E1212K probably damaging Het
Thada C T 17: 84,749,192 (GRCm39) R593Q probably damaging Het
Tmem131 C A 1: 36,851,690 (GRCm39) V938L probably benign Het
Tmem132c T A 5: 127,540,026 (GRCm39) W351R probably damaging Het
Trim10 C T 17: 37,187,906 (GRCm39) A374V probably benign Het
Try10 T C 6: 41,333,495 (GRCm39) V80A probably benign Het
Ttn T C 2: 76,559,707 (GRCm39) T29565A possibly damaging Het
Uggt2 G T 14: 119,312,757 (GRCm39) Q351K probably benign Het
Vmn1r120 A T 7: 20,786,889 (GRCm39) V274D probably damaging Het
Vmn1r62 A T 7: 5,678,358 (GRCm39) H13L probably benign Het
Vmn2r101 C T 17: 19,809,225 (GRCm39) T118I probably benign Het
Vmn2r114 ATTT ATT 17: 23,509,906 (GRCm39) probably null Het
Vps51 A G 19: 6,118,164 (GRCm39) V777A probably benign Het
Wnt5a A G 14: 28,235,274 (GRCm39) Y86C probably damaging Het
Xpa T C 4: 46,183,189 (GRCm39) E200G probably damaging Het
Zc3h12a C T 4: 125,020,435 (GRCm39) R136K possibly damaging Het
Zc3hav1 T C 6: 38,313,472 (GRCm39) H191R probably damaging Het
Zfp804a A G 2: 82,089,008 (GRCm39) T946A probably benign Het
Other mutations in 1700006A11Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01118:1700006A11Rik APN 3 124,195,058 (GRCm39) missense probably benign 0.30
IGL02552:1700006A11Rik APN 3 124,208,145 (GRCm39) missense probably damaging 1.00
IGL03092:1700006A11Rik APN 3 124,200,119 (GRCm39) missense probably damaging 1.00
R0094:1700006A11Rik UTSW 3 124,203,427 (GRCm39) splice site probably benign
R0097:1700006A11Rik UTSW 3 124,206,129 (GRCm39) missense probably benign 0.13
R0097:1700006A11Rik UTSW 3 124,206,129 (GRCm39) missense probably benign 0.13
R0184:1700006A11Rik UTSW 3 124,212,899 (GRCm39) missense probably damaging 1.00
R0361:1700006A11Rik UTSW 3 124,207,283 (GRCm39) missense possibly damaging 0.69
R1542:1700006A11Rik UTSW 3 124,208,055 (GRCm39) missense possibly damaging 0.95
R1549:1700006A11Rik UTSW 3 124,210,441 (GRCm39) missense probably benign 0.00
R1779:1700006A11Rik UTSW 3 124,200,163 (GRCm39) missense probably damaging 0.99
R1839:1700006A11Rik UTSW 3 124,203,369 (GRCm39) missense probably damaging 0.99
R1986:1700006A11Rik UTSW 3 124,212,977 (GRCm39) missense probably damaging 0.99
R2042:1700006A11Rik UTSW 3 124,210,377 (GRCm39) splice site probably benign
R2258:1700006A11Rik UTSW 3 124,207,267 (GRCm39) missense possibly damaging 0.84
R2291:1700006A11Rik UTSW 3 124,207,450 (GRCm39) missense probably damaging 1.00
R2509:1700006A11Rik UTSW 3 124,200,102 (GRCm39) missense probably benign 0.44
R4912:1700006A11Rik UTSW 3 124,213,505 (GRCm39) missense possibly damaging 0.68
R5074:1700006A11Rik UTSW 3 124,210,482 (GRCm39) missense probably benign 0.01
R5303:1700006A11Rik UTSW 3 124,199,999 (GRCm39) missense probably damaging 1.00
R5307:1700006A11Rik UTSW 3 124,199,999 (GRCm39) missense probably damaging 1.00
R5308:1700006A11Rik UTSW 3 124,199,999 (GRCm39) missense probably damaging 1.00
R5796:1700006A11Rik UTSW 3 124,215,077 (GRCm39) missense possibly damaging 0.66
R6018:1700006A11Rik UTSW 3 124,210,448 (GRCm39) missense probably damaging 1.00
R6198:1700006A11Rik UTSW 3 124,210,499 (GRCm39) splice site probably null
R6504:1700006A11Rik UTSW 3 124,213,569 (GRCm39) missense probably benign
R7124:1700006A11Rik UTSW 3 124,208,042 (GRCm39) missense probably benign 0.04
R7248:1700006A11Rik UTSW 3 124,207,959 (GRCm39) critical splice donor site probably null
R7351:1700006A11Rik UTSW 3 124,206,159 (GRCm39) missense probably damaging 1.00
R7709:1700006A11Rik UTSW 3 124,201,334 (GRCm39) missense probably damaging 1.00
R7773:1700006A11Rik UTSW 3 124,206,180 (GRCm39) missense probably benign 0.00
R8193:1700006A11Rik UTSW 3 124,213,517 (GRCm39) missense possibly damaging 0.84
R8201:1700006A11Rik UTSW 3 124,195,046 (GRCm39) missense probably benign 0.00
R9157:1700006A11Rik UTSW 3 124,207,220 (GRCm39) missense probably benign 0.22
R9313:1700006A11Rik UTSW 3 124,207,220 (GRCm39) missense probably benign 0.22
R9585:1700006A11Rik UTSW 3 124,199,993 (GRCm39) missense possibly damaging 0.73
R9683:1700006A11Rik UTSW 3 124,200,095 (GRCm39) missense probably benign 0.01
R9721:1700006A11Rik UTSW 3 124,212,932 (GRCm39) missense probably benign 0.00
X0063:1700006A11Rik UTSW 3 124,213,511 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CCAGAGTGCATTTGATAGAGCG -3'
(R):5'- AACATTCACTCTCCAGCATTCG -3'

Sequencing Primer
(F):5'- GAGCGAGATGTTAACCTCTCATGAC -3'
(R):5'- AGCATTCGTCCCTCCCAG -3'
Posted On 2014-10-01