Incidental Mutation 'R1698:Nkiras2'
ID192434
Institutional Source Beutler Lab
Gene Symbol Nkiras2
Ensembl Gene ENSMUSG00000017837
Gene NameNFKB inhibitor interacting Ras-like protein 2
SynonymsKBRAS2, 4930527H08Rik, 2410003M04Rik
MMRRC Submission 039731-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R1698 (G1)
Quality Score225
Status Not validated
Chromosome11
Chromosomal Location100619244-100627607 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 100625163 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 105 (D105E)
Ref Sequence ENSEMBL: ENSMUSP00000114456 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014339] [ENSMUST00000017981] [ENSMUST00000051947] [ENSMUST00000103119] [ENSMUST00000107376] [ENSMUST00000142993]
Predicted Effect probably benign
Transcript: ENSMUST00000014339
SMART Domains Protein: ENSMUSP00000014339
Gene: ENSMUSG00000014195

DomainStartEndE-ValueType
TPR 28 61 3.39e-7 SMART
TPR 62 95 1.11e-2 SMART
TPR 96 129 4.09e-1 SMART
Blast:TPR 142 175 4e-13 BLAST
Blast:TPR 176 209 1e-13 BLAST
TPR 210 243 2.29e-4 SMART
TPR 256 289 1.11e-2 SMART
TPR 294 327 2.87e-5 SMART
TPR 328 361 1.83e-3 SMART
DnaJ 380 443 2.93e-29 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000017981
AA Change: D105E

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000017981
Gene: ENSMUSG00000017837
AA Change: D105E

DomainStartEndE-ValueType
Pfam:Arf 1 168 4.3e-9 PFAM
Pfam:Roc 6 124 2.2e-13 PFAM
Pfam:MMR_HSR1 6 165 3.1e-6 PFAM
Pfam:Ras 6 170 2.9e-27 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000051947
AA Change: D105E

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000059559
Gene: ENSMUSG00000017837
AA Change: D105E

DomainStartEndE-ValueType
Pfam:Arf 1 168 5.6e-9 PFAM
Pfam:Miro 6 123 2.2e-21 PFAM
Pfam:Ras 6 170 4.5e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000103119
SMART Domains Protein: ENSMUSP00000099408
Gene: ENSMUSG00000014198

DomainStartEndE-ValueType
low complexity region 2 24 N/A INTRINSIC
ZnF_U1 72 108 4.36e-2 SMART
ZnF_C2H2 77 99 1.51e0 SMART
low complexity region 125 141 N/A INTRINSIC
low complexity region 143 161 N/A INTRINSIC
low complexity region 181 200 N/A INTRINSIC
ZnF_U1 225 259 5.72e-4 SMART
ZnF_C2H2 228 252 7.11e0 SMART
ZnF_U1 294 328 7.44e-3 SMART
ZnF_C2H2 297 321 4.34e0 SMART
low complexity region 347 365 N/A INTRINSIC
low complexity region 382 405 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000107376
AA Change: D105E

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000102999
Gene: ENSMUSG00000017837
AA Change: D105E

DomainStartEndE-ValueType
Pfam:Arf 1 168 5.6e-9 PFAM
Pfam:Miro 6 123 2.2e-21 PFAM
Pfam:Ras 6 170 4.5e-27 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127547
Predicted Effect probably damaging
Transcript: ENSMUST00000142993
AA Change: D105E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000114456
Gene: ENSMUSG00000017837
AA Change: D105E

DomainStartEndE-ValueType
Pfam:Arf 1 151 1.3e-8 PFAM
Pfam:Miro 6 123 1.4e-21 PFAM
Pfam:MMR_HSR1 6 145 4.5e-6 PFAM
Pfam:Ras 6 153 2.9e-25 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148560
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155840
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A C 6: 121,645,158 E340A possibly damaging Het
Abca13 A G 11: 9,314,507 D2963G probably benign Het
Actn3 T C 19: 4,862,207 D783G possibly damaging Het
Adamtsl2 A G 2: 27,103,127 E723G possibly damaging Het
Agrn G T 4: 156,166,558 Q1931K probably benign Het
Ankrd27 G A 7: 35,614,521 A426T probably benign Het
Atg9b C A 5: 24,388,188 G406C probably damaging Het
BC005561 C T 5: 104,520,510 A966V probably benign Het
C1ra A T 6: 124,522,766 Q637L probably benign Het
Cdhr2 A T 13: 54,719,581 M438L probably benign Het
Cep350 T C 1: 155,953,358 I267V possibly damaging Het
Chrna5 A G 9: 55,004,642 Y138C probably damaging Het
Chst3 T A 10: 60,185,703 M441L probably benign Het
Cmya5 G A 13: 93,063,519 P3434S probably benign Het
Cog2 T A 8: 124,525,683 L42Q probably damaging Het
Cpq A T 15: 33,250,126 I210F probably benign Het
Crnn C A 3: 93,148,458 Q184K probably damaging Het
Csnka2ip A T 16: 64,478,059 Y647* probably null Het
D5Ertd579e C T 5: 36,604,530 R1331H probably benign Het
Dennd5a C T 7: 109,917,380 probably null Het
Dync1h1 A G 12: 110,626,992 Q1231R possibly damaging Het
Erbin T A 13: 103,833,731 I1126F possibly damaging Het
Fastkd1 T C 2: 69,702,469 D518G probably benign Het
Gcc1 A G 6: 28,421,111 L69P possibly damaging Het
Gkn1 T C 6: 87,347,169 Y119C probably damaging Het
Gmpr T G 13: 45,517,044 W81G probably benign Het
Gyg T A 3: 20,138,051 I236F probably benign Het
Hcrtr2 T C 9: 76,246,453 Y219C probably damaging Het
Hmcn1 G A 1: 150,565,369 Q5379* probably null Het
Kank1 T C 19: 25,411,317 C785R probably benign Het
Lrp1b A T 2: 40,851,806 C3036* probably null Het
Mdga2 T C 12: 66,689,335 D373G probably damaging Het
Mgat2 A T 12: 69,185,719 I356F probably benign Het
Miga2 A G 2: 30,377,997 D346G probably damaging Het
Mprip T A 11: 59,760,258 L1596Q possibly damaging Het
Mroh2b G A 15: 4,914,140 R386Q probably benign Het
Mst1r T A 9: 107,919,980 S1349R probably benign Het
Mtmr3 C T 11: 4,492,825 R403H possibly damaging Het
Mycbpap G A 11: 94,508,143 Q460* probably null Het
Myo9a T C 9: 59,868,181 V1025A probably benign Het
Ncapd2 C T 6: 125,168,590 E1365K probably null Het
Nolc1 T G 19: 46,081,431 probably null Het
Nos1 T C 5: 117,867,232 F6L probably benign Het
Olfr1112 G T 2: 87,191,737 V17L probably benign Het
Olfr1278 T A 2: 111,292,560 C97* probably null Het
Olfr1369-ps1 C T 13: 21,116,565 T291I probably benign Het
Olfr218 A T 1: 173,203,371 N5I probably damaging Het
Olfr325 T C 11: 58,581,251 Y136H probably damaging Het
Olfr910 T A 9: 38,539,256 Y120* probably null Het
Pfkm A G 15: 98,128,318 E598G possibly damaging Het
Phf2 A T 13: 48,807,630 D861E unknown Het
Polr2a A G 11: 69,739,877 probably null Het
Popdc2 G A 16: 38,369,491 V167M probably damaging Het
Ptpn22 T C 3: 103,885,798 S422P probably benign Het
Rasa2 T C 9: 96,568,375 K490R possibly damaging Het
Rbfox3 T A 11: 118,495,221 D286V probably damaging Het
Rdh13 A G 7: 4,427,791 W223R probably damaging Het
Riok3 T C 18: 12,128,929 S7P probably benign Het
Rnaseh2b A G 14: 62,353,632 E144G probably benign Het
Rnf20 C T 4: 49,651,498 Q655* probably null Het
Rpap2 T C 5: 107,603,550 Y8H probably damaging Het
Slc5a10 T C 11: 61,709,602 Y181C probably benign Het
Snd1 G T 6: 28,888,253 G896* probably null Het
Spast C T 17: 74,356,160 Q158* probably null Het
Tas2r104 G A 6: 131,685,584 S54F probably damaging Het
Tcaf2 C T 6: 42,628,017 W611* probably null Het
Timp4 G A 6: 115,250,403 probably null Het
Tmem45a G A 16: 56,823,570 S72L probably benign Het
Tnrc18 T C 5: 142,788,703 T124A possibly damaging Het
Tns2 C T 15: 102,108,934 R281C probably damaging Het
Ttn T C 2: 76,942,915 D2381G probably damaging Het
Uevld T C 7: 46,955,624 T41A possibly damaging Het
Ugcg C T 4: 59,207,798 P46S probably benign Het
Unc5d T C 8: 28,696,478 E527G probably damaging Het
Vmn2r125 C T 4: 156,351,038 T237I probably benign Het
Vmn2r63 A C 7: 42,933,614 I59S probably benign Het
Vps72 G A 3: 95,118,695 S106N probably benign Het
Zan A C 5: 137,409,669 probably benign Het
Zbtb38 T C 9: 96,685,462 K1190E probably benign Het
Zc3h6 T C 2: 129,017,358 V1103A probably benign Het
Zfp407 G A 18: 84,562,157 T277I probably damaging Het
Zfp804b A G 5: 6,769,509 S1149P probably damaging Het
Other mutations in Nkiras2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00434:Nkiras2 APN 11 100624982 missense probably damaging 0.97
IGL03080:Nkiras2 APN 11 100624279 unclassified probably null
R0543:Nkiras2 UTSW 11 100624192 unclassified probably benign
R0733:Nkiras2 UTSW 11 100624932 unclassified probably null
R1192:Nkiras2 UTSW 11 100625980 unclassified probably null
R5727:Nkiras2 UTSW 11 100625027 missense probably damaging 1.00
R5973:Nkiras2 UTSW 11 100626040 missense probably damaging 0.99
R6427:Nkiras2 UTSW 11 100625035 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATGTAGGCTCCATCGAGACAGACC -3'
(R):5'- AACTGGGAATCATGCCAGCACC -3'

Sequencing Primer
(F):5'- CATCGAGACAGACCGAGGG -3'
(R):5'- gttggggaggaaagggttg -3'
Posted On2014-05-14