Incidental Mutation 'R2994:Rundc3a'
ID 257152
Institutional Source Beutler Lab
Gene Symbol Rundc3a
Ensembl Gene ENSMUSG00000006575
Gene Name RUN domain containing 3A
Synonyms Rpip8, Rap2ip
MMRRC Submission 040529-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.109) question?
Stock # R2994 (G1)
Quality Score 205
Status Not validated
Chromosome 11
Chromosomal Location 102284229-102293381 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 102291489 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 327 (T327I)
Ref Sequence ENSEMBL: ENSMUSP00000102722 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006750] [ENSMUST00000018821] [ENSMUST00000107098] [ENSMUST00000107102] [ENSMUST00000107103] [ENSMUST00000107105] [ENSMUST00000134669] [ENSMUST00000124755] [ENSMUST00000142097] [ENSMUST00000130436] [ENSMUST00000154001] [ENSMUST00000149777] [ENSMUST00000155104]
AlphaFold O08576
Predicted Effect probably damaging
Transcript: ENSMUST00000006750
AA Change: T319I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000006750
Gene: ENSMUSG00000006575
AA Change: T319I

DomainStartEndE-ValueType
RUN 125 187 2.34e-19 SMART
coiled coil region 267 322 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000018821
SMART Domains Protein: ENSMUSP00000018821
Gene: ENSMUSG00000018677

DomainStartEndE-ValueType
Pfam:Mito_carr 7 156 6.9e-23 PFAM
Pfam:Mito_carr 158 247 6.1e-19 PFAM
Pfam:Mito_carr 251 352 1.1e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107098
SMART Domains Protein: ENSMUSP00000102715
Gene: ENSMUSG00000018677

DomainStartEndE-ValueType
Pfam:Mito_carr 7 148 1.4e-21 PFAM
Pfam:Mito_carr 150 240 3.7e-19 PFAM
Pfam:Mito_carr 243 344 4.6e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000107102
AA Change: T319I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000102719
Gene: ENSMUSG00000006575
AA Change: T319I

DomainStartEndE-ValueType
RUN 125 187 2.34e-19 SMART
coiled coil region 267 322 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000107103
AA Change: T314I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000102720
Gene: ENSMUSG00000006575
AA Change: T314I

DomainStartEndE-ValueType
RUN 120 182 2.34e-19 SMART
coiled coil region 262 317 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000107105
AA Change: T327I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000102722
Gene: ENSMUSG00000006575
AA Change: T327I

DomainStartEndE-ValueType
RUN 125 187 2.34e-19 SMART
coiled coil region 267 320 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132876
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146330
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142157
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131219
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123688
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141535
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128331
Predicted Effect probably benign
Transcript: ENSMUST00000128825
SMART Domains Protein: ENSMUSP00000121790
Gene: ENSMUSG00000018677

DomainStartEndE-ValueType
Pfam:Mito_carr 35 77 6.5e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000134669
SMART Domains Protein: ENSMUSP00000114481
Gene: ENSMUSG00000018677

DomainStartEndE-ValueType
Pfam:Mito_carr 7 69 1.9e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124755
SMART Domains Protein: ENSMUSP00000120021
Gene: ENSMUSG00000018677

DomainStartEndE-ValueType
Pfam:Mito_carr 7 71 1.3e-9 PFAM
Pfam:Mito_carr 92 152 9.7e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000142097
SMART Domains Protein: ENSMUSP00000114365
Gene: ENSMUSG00000018677

DomainStartEndE-ValueType
Pfam:Mito_carr 7 63 2e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000130436
SMART Domains Protein: ENSMUSP00000115087
Gene: ENSMUSG00000018677

DomainStartEndE-ValueType
Pfam:Mito_carr 7 70 1.8e-9 PFAM
Pfam:Mito_carr 92 156 5.7e-15 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150982
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183859
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153395
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147160
Predicted Effect probably benign
Transcript: ENSMUST00000154001
SMART Domains Protein: ENSMUSP00000116336
Gene: ENSMUSG00000018677

DomainStartEndE-ValueType
Pfam:Mito_carr 7 70 3.1e-10 PFAM
Pfam:Mito_carr 92 156 9.8e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000149777
SMART Domains Protein: ENSMUSP00000115365
Gene: ENSMUSG00000018677

DomainStartEndE-ValueType
Pfam:Mito_carr 7 70 2.7e-9 PFAM
Pfam:Mito_carr 92 156 8.7e-15 PFAM
Pfam:Mito_carr 158 220 6.5e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000155104
SMART Domains Protein: ENSMUSP00000115445
Gene: ENSMUSG00000018677

DomainStartEndE-ValueType
Pfam:Mito_carr 7 69 3.7e-9 PFAM
Pfam:Mito_carr 92 156 1.2e-14 PFAM
Pfam:Mito_carr 158 248 5.4e-21 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 94.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T C 17: 24,603,538 (GRCm39) S577P probably damaging Het
Agrn T C 4: 156,251,785 (GRCm39) T1826A possibly damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Btnl6 C A 17: 34,734,498 (GRCm39) R88I possibly damaging Het
Cfap52 T A 11: 67,830,617 (GRCm39) Y281F probably benign Het
CK137956 T C 4: 127,845,300 (GRCm39) T148A probably benign Het
Fpr3 C T 17: 18,191,130 (GRCm39) Q134* probably null Het
Gbp4 A T 5: 105,284,886 (GRCm39) M1K probably null Het
Gpsm1 G A 2: 26,209,843 (GRCm39) probably benign Het
Nedd4 A G 9: 72,638,185 (GRCm39) D440G probably benign Het
Nlgn1 C T 3: 25,490,162 (GRCm39) D522N probably damaging Het
Oprk1 T C 1: 5,672,955 (GRCm39) V364A probably benign Het
Or1e35 T C 11: 73,797,541 (GRCm39) Y259C probably damaging Het
Or5d18 A G 2: 87,865,301 (GRCm39) Y61H probably damaging Het
Polr1e T C 4: 45,027,473 (GRCm39) probably null Het
Psmd11 T C 11: 80,351,493 (GRCm39) Y239H probably damaging Het
Ripor2 A T 13: 24,885,610 (GRCm39) D576V probably damaging Het
Sh3rf1 A G 8: 61,825,609 (GRCm39) T535A probably benign Het
Slc13a2 T A 11: 78,295,563 (GRCm39) E101V probably damaging Het
Tg A T 15: 66,553,802 (GRCm39) T406S probably benign Het
Tjp2 T C 19: 24,090,215 (GRCm39) E609G probably damaging Het
Zfp459 G A 13: 67,556,853 (GRCm39) P77S possibly damaging Het
Zfp612 A G 8: 110,816,049 (GRCm39) K380E probably damaging Het
Zfp629 T C 7: 127,210,228 (GRCm39) E527G probably damaging Het
Other mutations in Rundc3a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01150:Rundc3a APN 11 102,284,602 (GRCm39) missense probably benign 0.43
IGL02206:Rundc3a APN 11 102,290,460 (GRCm39) nonsense probably null
IGL02306:Rundc3a APN 11 102,291,764 (GRCm39) missense probably damaging 1.00
IGL02838:Rundc3a APN 11 102,288,521 (GRCm39) splice site probably benign
R0173:Rundc3a UTSW 11 102,289,071 (GRCm39) unclassified probably benign
R1745:Rundc3a UTSW 11 102,291,739 (GRCm39) frame shift probably null
R1746:Rundc3a UTSW 11 102,291,739 (GRCm39) frame shift probably null
R2208:Rundc3a UTSW 11 102,292,914 (GRCm39) missense probably damaging 1.00
R2366:Rundc3a UTSW 11 102,288,491 (GRCm39) missense probably damaging 1.00
R3755:Rundc3a UTSW 11 102,290,085 (GRCm39) missense possibly damaging 0.48
R3756:Rundc3a UTSW 11 102,290,085 (GRCm39) missense possibly damaging 0.48
R5519:Rundc3a UTSW 11 102,292,857 (GRCm39) missense probably benign 0.01
R5748:Rundc3a UTSW 11 102,290,225 (GRCm39) missense possibly damaging 0.63
R6361:Rundc3a UTSW 11 102,291,621 (GRCm39) missense probably damaging 1.00
R6722:Rundc3a UTSW 11 102,290,775 (GRCm39) missense possibly damaging 0.73
R6819:Rundc3a UTSW 11 102,289,287 (GRCm39) nonsense probably null
R7324:Rundc3a UTSW 11 102,290,799 (GRCm39) missense possibly damaging 0.80
R7369:Rundc3a UTSW 11 102,290,721 (GRCm39) missense probably damaging 1.00
R7437:Rundc3a UTSW 11 102,289,230 (GRCm39) missense probably damaging 1.00
R7439:Rundc3a UTSW 11 102,290,872 (GRCm39) critical splice donor site probably null
R7441:Rundc3a UTSW 11 102,290,872 (GRCm39) critical splice donor site probably null
R7542:Rundc3a UTSW 11 102,290,871 (GRCm39) missense probably benign 0.44
R7802:Rundc3a UTSW 11 102,290,835 (GRCm39) missense probably benign 0.18
R9144:Rundc3a UTSW 11 102,290,862 (GRCm39) missense probably benign 0.04
R9356:Rundc3a UTSW 11 102,292,890 (GRCm39) missense probably damaging 1.00
R9657:Rundc3a UTSW 11 102,291,578 (GRCm39) missense probably benign 0.01
Z1176:Rundc3a UTSW 11 102,291,817 (GRCm39) missense probably benign 0.02
Z1177:Rundc3a UTSW 11 102,289,278 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AGTGCACTAATCCTGGCCAC -3'
(R):5'- CTGTGTCTACAGCAGAACAGAAAAG -3'

Sequencing Primer
(F):5'- CCACAAACATGGCCTTAGATCCTAG -3'
(R):5'- AGCTCCAGGCCCCACTTC -3'
Posted On 2015-01-11