Incidental Mutation 'R4922:Snapc4'
ID 378669
Institutional Source Beutler Lab
Gene Symbol Snapc4
Ensembl Gene ENSMUSG00000036281
Gene Name small nuclear RNA activating complex, polypeptide 4
Synonyms 5730436L13Rik
MMRRC Submission 042524-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4922 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 26252777-26270665 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 26259245 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 635 (V635A)
Ref Sequence ENSEMBL: ENSMUSP00000109750 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035427] [ENSMUST00000114115]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000035427
AA Change: V627A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000041767
Gene: ENSMUSG00000036281
AA Change: V627A

DomainStartEndE-ValueType
low complexity region 33 52 N/A INTRINSIC
low complexity region 60 72 N/A INTRINSIC
coiled coil region 93 119 N/A INTRINSIC
low complexity region 200 212 N/A INTRINSIC
SANT 219 290 2.37e1 SMART
SANT 293 343 4.38e-10 SMART
SANT 345 397 3.05e-9 SMART
SANT 400 449 8.24e-15 SMART
SANT 452 501 7.8e-16 SMART
low complexity region 516 547 N/A INTRINSIC
Blast:SANT 550 753 1e-23 BLAST
low complexity region 893 909 N/A INTRINSIC
low complexity region 925 947 N/A INTRINSIC
low complexity region 971 983 N/A INTRINSIC
low complexity region 988 1007 N/A INTRINSIC
low complexity region 1157 1169 N/A INTRINSIC
low complexity region 1176 1190 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114115
AA Change: V635A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000109750
Gene: ENSMUSG00000036281
AA Change: V635A

DomainStartEndE-ValueType
coiled coil region 3 29 N/A INTRINSIC
low complexity region 41 60 N/A INTRINSIC
low complexity region 68 80 N/A INTRINSIC
coiled coil region 101 127 N/A INTRINSIC
low complexity region 208 220 N/A INTRINSIC
SANT 227 298 2.37e1 SMART
SANT 301 351 4.38e-10 SMART
SANT 353 405 3.05e-9 SMART
SANT 408 457 8.24e-15 SMART
SANT 460 509 7.8e-16 SMART
low complexity region 524 555 N/A INTRINSIC
Blast:SANT 558 761 1e-23 BLAST
low complexity region 901 917 N/A INTRINSIC
low complexity region 933 955 N/A INTRINSIC
low complexity region 979 991 N/A INTRINSIC
low complexity region 996 1015 N/A INTRINSIC
low complexity region 1165 1177 N/A INTRINSIC
low complexity region 1184 1198 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000123934
SMART Domains Protein: ENSMUSP00000122456
Gene: ENSMUSG00000036281

DomainStartEndE-ValueType
SANT 47 99 3.05e-9 SMART
SANT 102 151 8.24e-15 SMART
SANT 154 203 7.8e-16 SMART
low complexity region 218 249 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125198
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125789
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133778
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149850
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150121
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148024
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144871
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137869
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135171
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136054
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149316
Meta Mutation Damage Score 0.0595 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.0%
Validation Efficiency 97% (76/78)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the largest subunit of the small nuclear RNA-activating protein (SNAP) complex. The encoded protein contains a Myb DNA-binding domain, and is essential for RNA polymerase II and III polymerase transcription from small nuclear RNA promoters. A mutation in this gene is associated with ankylosing spondylitis. [provided by RefSeq, Jul 2016]
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb2 G T 4: 129,901,645 (GRCm39) C423F probably damaging Het
Akap11 A T 14: 78,750,220 (GRCm39) Y722* probably null Het
Albfm1 A G 5: 90,727,570 (GRCm39) H396R possibly damaging Het
Anxa3 A T 5: 96,968,288 (GRCm39) I114F probably damaging Het
Arfgef3 T A 10: 18,467,934 (GRCm39) R1755S probably damaging Het
Atf7ip A T 6: 136,537,039 (GRCm39) T91S possibly damaging Het
Bcl2 C A 1: 106,640,376 (GRCm39) A79S probably benign Het
Bltp1 T A 3: 37,041,314 (GRCm39) I2564K probably damaging Het
Bmerb1 A G 16: 13,804,683 (GRCm39) H10R possibly damaging Het
Bmp10 C T 6: 87,410,557 (GRCm39) P117S probably benign Het
Bmpr2 A G 1: 59,906,583 (GRCm39) T559A probably benign Het
Cd200r1 A T 16: 44,610,039 (GRCm39) Y86F probably damaging Het
Cemip T A 7: 83,596,308 (GRCm39) probably benign Het
Cfap251 T C 5: 123,394,116 (GRCm39) V335A probably benign Het
Cfap52 A G 11: 67,822,548 (GRCm39) probably null Het
Chml T C 1: 175,514,712 (GRCm39) H60R possibly damaging Het
Cic TCCCCC TCCCCCCCC 7: 24,991,095 (GRCm39) probably benign Het
Clec12a A G 6: 129,336,441 (GRCm39) Y201C probably damaging Het
Col15a1 T C 4: 47,258,719 (GRCm39) V370A probably benign Het
Cpsf3 T C 12: 21,351,538 (GRCm39) I353T probably damaging Het
Csf2rb T A 15: 78,230,667 (GRCm39) V470E probably benign Het
Cyp4a10 C A 4: 115,378,291 (GRCm39) Q126K probably benign Het
Dennd1b T C 1: 139,013,652 (GRCm39) S249P probably damaging Het
Dnase2a A G 8: 85,635,625 (GRCm39) probably null Het
Dpp10 T C 1: 123,305,882 (GRCm39) N490S probably benign Het
Drgx A T 14: 32,330,363 (GRCm39) N160I probably damaging Het
Enc1 C T 13: 97,382,243 (GRCm39) A251V probably benign Het
Fancd2 T C 6: 113,562,434 (GRCm39) V1258A probably benign Het
Fancm G A 12: 65,153,666 (GRCm39) probably null Het
Fbxo16 C T 14: 65,536,657 (GRCm39) T177I probably benign Het
Gm1965 T C 6: 89,123,525 (GRCm39) noncoding transcript Het
Hal A T 10: 93,339,401 (GRCm39) M497L probably damaging Het
Hectd4 T C 5: 121,497,378 (GRCm39) L3936S possibly damaging Het
Hs3st4 G T 7: 123,996,410 (GRCm39) G359W probably damaging Het
Il6st C T 13: 112,639,399 (GRCm39) P608L probably damaging Het
Kctd18 A C 1: 58,004,707 (GRCm39) probably benign Het
Kntc1 T A 5: 123,940,309 (GRCm39) S1636T probably damaging Het
Lrrn1 A T 6: 107,545,311 (GRCm39) S370C probably damaging Het
Mtcl1 A C 17: 66,655,474 (GRCm39) C968G probably benign Het
Mylip G A 13: 45,562,238 (GRCm39) A347T probably damaging Het
Naip2 T C 13: 100,291,468 (GRCm39) S1157G probably benign Het
Ncoa4-ps A G 12: 119,226,252 (GRCm39) noncoding transcript Het
Neu4 T A 1: 93,950,200 (GRCm39) V53E probably damaging Het
Nxpe3 T C 16: 55,680,687 (GRCm39) I302V probably benign Het
Or11i1 A T 3: 106,729,576 (GRCm39) C100S probably damaging Het
Or4c15b A T 2: 89,112,811 (GRCm39) L243Q possibly damaging Het
Otos T C 1: 92,572,090 (GRCm39) T79A probably damaging Het
Pde4a T C 9: 21,122,009 (GRCm39) I578T probably damaging Het
Pramel17 T A 4: 101,692,729 (GRCm39) M424L probably benign Het
Prex2 C T 1: 11,240,164 (GRCm39) P927S probably damaging Het
Prune2 A T 19: 17,100,116 (GRCm39) K1873N probably benign Het
Ptk7 C A 17: 46,887,417 (GRCm39) probably null Het
Reln T A 5: 22,200,585 (GRCm39) probably null Het
Rgl2 A G 17: 34,151,749 (GRCm39) probably benign Het
Rnf145 T A 11: 44,448,063 (GRCm39) probably benign Het
Ryr2 T C 13: 11,724,849 (GRCm39) E2488G probably damaging Het
Sgo2b A T 8: 64,379,664 (GRCm39) M1056K possibly damaging Het
Snx19 T A 9: 30,348,763 (GRCm39) Y101N probably benign Het
Sorl1 C A 9: 41,925,746 (GRCm39) probably null Het
Sp110 C G 1: 85,516,839 (GRCm39) E219D probably damaging Het
Speer4a2 A T 5: 26,289,791 (GRCm39) I212N probably damaging Het
Tmem30b G A 12: 73,592,488 (GRCm39) P209L probably damaging Het
Trbv12-2 G T 6: 41,096,081 (GRCm39) C52F probably damaging Het
Tsc2 T A 17: 24,819,343 (GRCm39) D1304V probably benign Het
Ugt2b36 T C 5: 87,214,183 (GRCm39) Y487C probably damaging Het
Vmn1r10 T A 6: 57,090,811 (GRCm39) N134K probably damaging Het
Wdr27 C A 17: 15,141,016 (GRCm39) probably null Het
Wdr75 T C 1: 45,855,638 (GRCm39) F430L probably damaging Het
Zfp629 A G 7: 127,211,299 (GRCm39) I170T probably damaging Het
Other mutations in Snapc4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00162:Snapc4 APN 2 26,259,324 (GRCm39) missense probably benign
IGL01730:Snapc4 APN 2 26,253,736 (GRCm39) splice site probably null
IGL01958:Snapc4 APN 2 26,256,452 (GRCm39) unclassified probably benign
IGL02354:Snapc4 APN 2 26,257,319 (GRCm39) unclassified probably benign
IGL02425:Snapc4 APN 2 26,258,212 (GRCm39) missense probably damaging 1.00
IGL02812:Snapc4 APN 2 26,259,384 (GRCm39) missense probably benign 0.03
IGL02951:Snapc4 APN 2 26,260,847 (GRCm39) missense probably benign 0.33
R0011:Snapc4 UTSW 2 26,254,825 (GRCm39) missense probably benign 0.03
R0409:Snapc4 UTSW 2 26,257,228 (GRCm39) missense probably benign 0.37
R0932:Snapc4 UTSW 2 26,264,658 (GRCm39) missense probably damaging 1.00
R1674:Snapc4 UTSW 2 26,266,209 (GRCm39) missense probably benign
R1878:Snapc4 UTSW 2 26,266,165 (GRCm39) critical splice donor site probably null
R3722:Snapc4 UTSW 2 26,255,440 (GRCm39) missense probably benign
R3886:Snapc4 UTSW 2 26,255,510 (GRCm39) nonsense probably null
R3887:Snapc4 UTSW 2 26,255,510 (GRCm39) nonsense probably null
R3888:Snapc4 UTSW 2 26,255,510 (GRCm39) nonsense probably null
R3889:Snapc4 UTSW 2 26,255,510 (GRCm39) nonsense probably null
R4638:Snapc4 UTSW 2 26,255,314 (GRCm39) missense probably damaging 1.00
R4663:Snapc4 UTSW 2 26,264,193 (GRCm39) missense possibly damaging 0.77
R4879:Snapc4 UTSW 2 26,256,004 (GRCm39) missense possibly damaging 0.93
R5385:Snapc4 UTSW 2 26,264,515 (GRCm39) missense probably benign 0.44
R5525:Snapc4 UTSW 2 26,259,538 (GRCm39) small deletion probably benign
R5762:Snapc4 UTSW 2 26,268,618 (GRCm39) missense probably damaging 1.00
R5839:Snapc4 UTSW 2 26,255,546 (GRCm39) missense probably benign 0.01
R6300:Snapc4 UTSW 2 26,268,563 (GRCm39) missense probably benign 0.14
R6422:Snapc4 UTSW 2 26,258,315 (GRCm39) missense probably benign 0.00
R6843:Snapc4 UTSW 2 26,263,611 (GRCm39) missense probably benign 0.03
R7044:Snapc4 UTSW 2 26,259,965 (GRCm39) missense probably damaging 1.00
R7341:Snapc4 UTSW 2 26,259,273 (GRCm39) missense probably benign 0.01
R7727:Snapc4 UTSW 2 26,263,446 (GRCm39) missense probably damaging 1.00
R7941:Snapc4 UTSW 2 26,266,730 (GRCm39) missense probably damaging 0.98
R8277:Snapc4 UTSW 2 26,255,722 (GRCm39) missense probably benign 0.05
R8311:Snapc4 UTSW 2 26,268,546 (GRCm39) missense probably benign
R8323:Snapc4 UTSW 2 26,254,711 (GRCm39) missense probably benign 0.15
R8777:Snapc4 UTSW 2 26,259,375 (GRCm39) missense probably benign 0.00
R8777-TAIL:Snapc4 UTSW 2 26,259,375 (GRCm39) missense probably benign 0.00
R8855:Snapc4 UTSW 2 26,264,545 (GRCm39) missense probably damaging 1.00
R9069:Snapc4 UTSW 2 26,260,805 (GRCm39) nonsense probably null
R9362:Snapc4 UTSW 2 26,254,865 (GRCm39) missense probably damaging 0.99
R9718:Snapc4 UTSW 2 26,268,533 (GRCm39) missense probably damaging 1.00
R9780:Snapc4 UTSW 2 26,267,019 (GRCm39) missense possibly damaging 0.94
X0010:Snapc4 UTSW 2 26,259,973 (GRCm39) missense probably damaging 1.00
X0011:Snapc4 UTSW 2 26,259,973 (GRCm39) missense probably damaging 1.00
X0014:Snapc4 UTSW 2 26,259,973 (GRCm39) missense probably damaging 1.00
X0017:Snapc4 UTSW 2 26,259,973 (GRCm39) missense probably damaging 1.00
X0021:Snapc4 UTSW 2 26,259,973 (GRCm39) missense probably damaging 1.00
X0023:Snapc4 UTSW 2 26,259,973 (GRCm39) missense probably damaging 1.00
X0028:Snapc4 UTSW 2 26,259,973 (GRCm39) missense probably damaging 1.00
X0033:Snapc4 UTSW 2 26,259,973 (GRCm39) missense probably damaging 1.00
X0064:Snapc4 UTSW 2 26,259,973 (GRCm39) missense probably damaging 1.00
X0067:Snapc4 UTSW 2 26,259,973 (GRCm39) missense probably damaging 1.00
Z1176:Snapc4 UTSW 2 26,258,234 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCTTTTGCCAGGTCAGAAACC -3'
(R):5'- TCCTCAACAGTACAGAGTGCCAG -3'

Sequencing Primer
(F):5'- CTGCCACACTGTCCAGAG -3'
(R):5'- AGTGCCAGACATTGACCTGTG -3'
Posted On 2016-04-15