Incidental Mutation 'R8804:Sun1'
ID 671909
Institutional Source Beutler Lab
Gene Symbol Sun1
Ensembl Gene ENSMUSG00000036817
Gene Name Sad1 and UNC84 domain containing 1
Synonyms Unc84a, 5730434D03Rik, 4632417G13Rik
MMRRC Submission 068641-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8804 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 139200637-139249840 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 139231165 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 320 (T320A)
Ref Sequence ENSEMBL: ENSMUSP00000056655 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058716] [ENSMUST00000078690] [ENSMUST00000100517] [ENSMUST00000110882] [ENSMUST00000110883] [ENSMUST00000110884] [ENSMUST00000135720] [ENSMUST00000143562] [ENSMUST00000146715]
AlphaFold Q9D666
Predicted Effect probably benign
Transcript: ENSMUST00000058716
AA Change: T320A

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000056655
Gene: ENSMUSG00000036817
AA Change: T320A

DomainStartEndE-ValueType
low complexity region 23 35 N/A INTRINSIC
low complexity region 108 127 N/A INTRINSIC
low complexity region 152 162 N/A INTRINSIC
ZnF_C2H2 183 205 5.2e0 SMART
SCOP:d1qovm1 334 450 2e-3 SMART
low complexity region 466 475 N/A INTRINSIC
coiled coil region 492 527 N/A INTRINSIC
SCOP:d1eq1a_ 572 689 3e-3 SMART
Pfam:Sad1_UNC 777 911 2.2e-48 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000078690
AA Change: T256A

PolyPhen 2 Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000077756
Gene: ENSMUSG00000036817
AA Change: T256A

DomainStartEndE-ValueType
low complexity region 23 35 N/A INTRINSIC
low complexity region 108 127 N/A INTRINSIC
low complexity region 152 162 N/A INTRINSIC
ZnF_C2H2 183 205 5.2e0 SMART
SCOP:d1qovm1 270 386 2e-3 SMART
low complexity region 402 411 N/A INTRINSIC
coiled coil region 428 463 N/A INTRINSIC
SCOP:d1eq1a_ 508 625 2e-3 SMART
Pfam:Sad1_UNC 713 847 1.9e-48 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000100517
SMART Domains Protein: ENSMUSP00000098086
Gene: ENSMUSG00000036817

DomainStartEndE-ValueType
low complexity region 23 35 N/A INTRINSIC
low complexity region 108 127 N/A INTRINSIC
low complexity region 152 162 N/A INTRINSIC
ZnF_C2H2 183 205 5.2e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000110882
SMART Domains Protein: ENSMUSP00000106506
Gene: ENSMUSG00000036817

DomainStartEndE-ValueType
low complexity region 23 35 N/A INTRINSIC
low complexity region 108 127 N/A INTRINSIC
low complexity region 152 162 N/A INTRINSIC
ZnF_C2H2 183 205 5.2e0 SMART
low complexity region 263 271 N/A INTRINSIC
low complexity region 310 319 N/A INTRINSIC
coiled coil region 336 371 N/A INTRINSIC
SCOP:d1eq1a_ 416 533 4e-3 SMART
Pfam:Sad1_UNC 621 755 7.1e-49 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110883
SMART Domains Protein: ENSMUSP00000106507
Gene: ENSMUSG00000036817

DomainStartEndE-ValueType
low complexity region 23 35 N/A INTRINSIC
low complexity region 108 127 N/A INTRINSIC
low complexity region 152 162 N/A INTRINSIC
ZnF_C2H2 183 205 5.2e0 SMART
SCOP:d1qovm1 233 327 4e-3 SMART
low complexity region 343 352 N/A INTRINSIC
coiled coil region 369 404 N/A INTRINSIC
SCOP:d1eq1a_ 449 566 3e-3 SMART
Pfam:Sad1_UNC 654 788 1.7e-48 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110884
SMART Domains Protein: ENSMUSP00000106508
Gene: ENSMUSG00000036817

DomainStartEndE-ValueType
low complexity region 23 35 N/A INTRINSIC
low complexity region 108 127 N/A INTRINSIC
low complexity region 152 162 N/A INTRINSIC
ZnF_C2H2 183 205 5.2e0 SMART
Pfam:MRP 274 381 1.8e-8 PFAM
low complexity region 382 390 N/A INTRINSIC
low complexity region 429 438 N/A INTRINSIC
coiled coil region 455 490 N/A INTRINSIC
SCOP:d1eq1a_ 535 652 4e-3 SMART
Pfam:Sad1_UNC 740 874 2e-48 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000128817
SMART Domains Protein: ENSMUSP00000119587
Gene: ENSMUSG00000036817

DomainStartEndE-ValueType
coiled coil region 58 126 N/A INTRINSIC
PDB:4DXS|A 207 258 1e-13 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000135720
SMART Domains Protein: ENSMUSP00000122785
Gene: ENSMUSG00000036817

DomainStartEndE-ValueType
low complexity region 14 33 N/A INTRINSIC
ZnF_C2H2 98 120 5.2e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000135926
SMART Domains Protein: ENSMUSP00000114488
Gene: ENSMUSG00000036817

DomainStartEndE-ValueType
ZnF_C2H2 11 33 5.2e0 SMART
transmembrane domain 59 81 N/A INTRINSIC
transmembrane domain 120 142 N/A INTRINSIC
transmembrane domain 149 171 N/A INTRINSIC
low complexity region 202 211 N/A INTRINSIC
coiled coil region 227 255 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000143562
SMART Domains Protein: ENSMUSP00000116364
Gene: ENSMUSG00000036817

DomainStartEndE-ValueType
low complexity region 23 35 N/A INTRINSIC
Pfam:MRP 62 158 7e-34 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000146715
SMART Domains Protein: ENSMUSP00000117679
Gene: ENSMUSG00000036817

DomainStartEndE-ValueType
low complexity region 23 35 N/A INTRINSIC
Pfam:MRP 62 160 4.8e-34 PFAM
Meta Mutation Damage Score 0.0849 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 98% (79/81)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the unc-84 homolog family and encodes a nuclear nuclear envelope protein with an Unc84 (SUN) domain. The protein is involved in nuclear anchorage and migration. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2010]
PHENOTYPE: Mice homozygous for a null allele exhibit sterility due to arrested meiosis, hearing loss associated with outer hair cell degeneration, abnormal cerebellum development, ataxia, impaired motor coordination, and abnormal Purkinje cell migration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700064H15Rik T C 3: 19,628,656 (GRCm38) probably benign Het
Adamts1 A G 16: 85,802,412 (GRCm38) F100S probably damaging Het
Adamts5 A G 16: 85,869,912 (GRCm38) probably benign Het
Adgrb2 T A 4: 130,005,419 (GRCm38) W309R probably damaging Het
Adgrl2 A T 3: 148,847,016 (GRCm38) V617E probably damaging Het
Akt1 T C 12: 112,658,607 (GRCm38) E169G probably damaging Het
Arhgap40 A G 2: 158,547,706 (GRCm38) T600A probably benign Het
B4galt3 C T 1: 171,276,374 (GRCm38) H395Y probably benign Het
BC024139 T G 15: 76,124,084 (GRCm38) T376P possibly damaging Het
Bin3 A G 14: 70,123,847 (GRCm38) R22G probably damaging Het
Cadps2 A T 6: 23,496,806 (GRCm38) I480N probably damaging Het
Camsap3 A G 8: 3,602,624 (GRCm38) T401A probably benign Het
Cdhr5 T C 7: 141,269,407 (GRCm38) T747A probably benign Het
Chn2 A G 6: 54,273,076 (GRCm38) I193V probably benign Het
Clca3b T C 3: 144,839,137 (GRCm38) N363S probably benign Het
Clec7a T C 6: 129,465,555 (GRCm38) T125A probably benign Het
Cys1 A T 12: 24,668,611 (GRCm38) L81Q unknown Het
Dcbld2 G A 16: 58,461,049 (GRCm38) probably benign Het
Ddx60 T A 8: 61,958,606 (GRCm38) D497E probably benign Het
Dnah2 T C 11: 69,465,685 (GRCm38) I2117V probably benign Het
Dnah6 G A 6: 73,065,773 (GRCm38) S3274F probably benign Het
Dock9 A T 14: 121,605,183 (GRCm38) I1225N probably damaging Het
Egfr A G 11: 16,869,339 (GRCm38) T290A probably benign Het
Elmod2 T A 8: 83,319,521 (GRCm38) K142N probably benign Het
Ephx2 T C 14: 66,087,020 (GRCm38) T441A probably benign Het
Fam234a A G 17: 26,216,557 (GRCm38) probably benign Het
Fer1l4 C A 2: 156,051,994 (GRCm38) E102D probably benign Het
Fermt3 A G 19: 7,014,326 (GRCm38) probably benign Het
Fgd5 C T 6: 91,987,526 (GRCm38) R247C probably benign Het
Gm14443 G A 2: 175,169,859 (GRCm38) H265Y probably damaging Het
Gm8251 T C 1: 44,056,649 (GRCm38) N1763S probably benign Het
Gykl1 A G 18: 52,694,536 (GRCm38) D272G probably benign Het
Hip1r T C 5: 124,001,512 (GRCm38) S952P possibly damaging Het
Hmcn2 A G 2: 31,425,381 (GRCm38) N3714S probably benign Het
Hrasls T A 16: 29,220,453 (GRCm38) V95E probably benign Het
Ighv1-36 G T 12: 114,879,961 (GRCm38) T93K probably benign Het
Igsf10 T G 3: 59,336,455 (GRCm38) T153P probably damaging Het
Kif13b T C 14: 64,750,342 (GRCm38) C773R probably damaging Het
Lipf T A 19: 33,964,798 (GRCm38) Y43N probably damaging Het
Mlh1 T C 9: 111,264,904 (GRCm38) D90G probably damaging Het
Msh5 A T 17: 35,032,854 (GRCm38) I410K probably benign Het
Mylk3 T C 8: 85,359,245 (GRCm38) D220G probably benign Het
Ncdn G A 4: 126,750,105 (GRCm38) A308V probably benign Het
Nfu1 T A 6: 87,016,432 (GRCm38) probably benign Het
Nup153 A G 13: 46,687,159 (GRCm38) V991A probably benign Het
Nup188 T A 2: 30,330,879 (GRCm38) H960Q probably benign Het
Parp4 G T 14: 56,616,443 (GRCm38) E839* probably null Het
Pfas T C 11: 68,991,082 (GRCm38) N30D Het
Pitpnc1 T A 11: 107,212,605 (GRCm38) N223Y probably damaging Het
Plod1 C T 4: 147,913,321 (GRCm38) V644I probably damaging Het
Pou2f1 T C 1: 165,880,470 (GRCm38) T548A unknown Het
Psg20 A T 7: 18,682,659 (GRCm38) N177K possibly damaging Het
Psmb8 T A 17: 34,200,251 (GRCm38) I173N probably damaging Het
Rimkla G A 4: 119,468,076 (GRCm38) Q379* probably null Het
Rnasel G T 1: 153,753,915 (GRCm38) G59V probably damaging Het
Rptn A T 3: 93,395,843 (GRCm38) D161V probably damaging Het
Scrt1 C A 15: 76,519,211 (GRCm38) C193F unknown Het
Sdk2 G T 11: 113,873,152 (GRCm38) Y269* probably null Het
Sfxn2 G C 19: 46,585,804 (GRCm38) probably benign Het
Slc17a4 G T 13: 23,903,262 (GRCm38) T264K probably benign Het
Slfn8 T A 11: 83,016,813 (GRCm38) Q301H possibly damaging Het
Sntb1 G A 15: 55,792,127 (GRCm38) S231F probably benign Het
Spag17 T A 3: 99,967,190 (GRCm38) S137T probably benign Het
Srd5a2 A T 17: 74,047,634 (GRCm38) V65E possibly damaging Het
Stk11ip A G 1: 75,535,256 (GRCm38) H967R probably benign Het
Svep1 A G 4: 58,206,043 (GRCm38) S112P possibly damaging Het
Tacc2 T C 7: 130,692,963 (GRCm38) L15P probably benign Het
Tas2r140 T A 6: 133,055,363 (GRCm38) N144I probably damaging Het
Thpo T A 16: 20,725,957 (GRCm38) R174S probably damaging Het
Tnik A T 3: 28,594,053 (GRCm38) Q418L unknown Het
Tnr A T 1: 159,858,312 (GRCm38) Q371L probably benign Het
Tulp2 G A 7: 45,520,974 (GRCm38) R439Q probably damaging Het
Uchl4 G T 9: 64,235,324 (GRCm38) W29L probably damaging Het
Vrk3 T A 7: 44,757,846 (GRCm38) C80* probably null Het
Washc4 T C 10: 83,572,151 (GRCm38) L540P probably damaging Het
Wscd1 T C 11: 71,784,335 (GRCm38) F356S probably damaging Het
Wwc1 A T 11: 35,883,317 (GRCm38) M372K probably benign Het
Zfhx2 A G 14: 55,074,734 (GRCm38) F168L probably benign Het
Zfp28 A G 7: 6,390,400 (GRCm38) D175G probably damaging Het
Other mutations in Sun1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00465:Sun1 APN 5 139,234,685 (GRCm38) critical splice acceptor site probably null
IGL01364:Sun1 APN 5 139,234,741 (GRCm38) missense probably damaging 1.00
IGL02142:Sun1 APN 5 139,231,163 (GRCm38) missense possibly damaging 0.95
IGL02251:Sun1 APN 5 139,241,431 (GRCm38) missense probably damaging 1.00
IGL02939:Sun1 APN 5 139,235,488 (GRCm38) splice site probably benign
IGL03253:Sun1 APN 5 139,223,586 (GRCm38) splice site probably benign
IGL03370:Sun1 APN 5 139,231,131 (GRCm38) missense probably damaging 0.96
PIT4418001:Sun1 UTSW 5 139,226,588 (GRCm38) missense probably damaging 0.97
R0124:Sun1 UTSW 5 139,246,679 (GRCm38) unclassified probably benign
R0145:Sun1 UTSW 5 139,241,411 (GRCm38) missense probably damaging 0.98
R0376:Sun1 UTSW 5 139,226,699 (GRCm38) unclassified probably benign
R0512:Sun1 UTSW 5 139,234,847 (GRCm38) splice site probably benign
R0729:Sun1 UTSW 5 139,237,864 (GRCm38) unclassified probably benign
R0733:Sun1 UTSW 5 139,231,163 (GRCm38) missense possibly damaging 0.63
R1188:Sun1 UTSW 5 139,238,856 (GRCm38) missense probably damaging 0.98
R1724:Sun1 UTSW 5 139,235,725 (GRCm38) missense probably benign
R1733:Sun1 UTSW 5 139,230,789 (GRCm38) missense possibly damaging 0.82
R1913:Sun1 UTSW 5 139,235,732 (GRCm38) critical splice donor site probably null
R2033:Sun1 UTSW 5 139,225,438 (GRCm38) missense probably damaging 1.00
R2200:Sun1 UTSW 5 139,231,219 (GRCm38) missense probably benign 0.11
R3084:Sun1 UTSW 5 139,235,601 (GRCm38) missense probably benign 0.41
R3085:Sun1 UTSW 5 139,235,601 (GRCm38) missense probably benign 0.41
R3771:Sun1 UTSW 5 139,238,820 (GRCm38) unclassified probably benign
R3772:Sun1 UTSW 5 139,238,820 (GRCm38) unclassified probably benign
R3804:Sun1 UTSW 5 139,225,362 (GRCm38) nonsense probably null
R4300:Sun1 UTSW 5 139,227,594 (GRCm38) unclassified probably benign
R4428:Sun1 UTSW 5 139,234,475 (GRCm38) intron probably benign
R4993:Sun1 UTSW 5 139,225,333 (GRCm38) missense possibly damaging 0.84
R5075:Sun1 UTSW 5 139,226,891 (GRCm38) splice site probably null
R5363:Sun1 UTSW 5 139,234,743 (GRCm38) missense probably damaging 1.00
R5826:Sun1 UTSW 5 139,245,416 (GRCm38) missense probably damaging 1.00
R6753:Sun1 UTSW 5 139,215,259 (GRCm38) splice site probably null
R7218:Sun1 UTSW 5 139,226,687 (GRCm38) missense unknown
R7320:Sun1 UTSW 5 139,248,484 (GRCm38) missense probably damaging 1.00
R7448:Sun1 UTSW 5 139,246,834 (GRCm38) missense probably damaging 1.00
R7494:Sun1 UTSW 5 139,235,720 (GRCm38) missense probably benign
R8398:Sun1 UTSW 5 139,236,653 (GRCm38) missense probably damaging 1.00
R8756:Sun1 UTSW 5 139,236,689 (GRCm38) missense probably damaging 0.99
R8772:Sun1 UTSW 5 139,223,692 (GRCm38) missense probably benign 0.00
R8924:Sun1 UTSW 5 139,223,635 (GRCm38) missense probably damaging 1.00
R9124:Sun1 UTSW 5 139,245,366 (GRCm38) nonsense probably null
R9169:Sun1 UTSW 5 139,233,518 (GRCm38) missense probably benign 0.33
R9262:Sun1 UTSW 5 139,215,163 (GRCm38) missense unknown
R9558:Sun1 UTSW 5 139,225,264 (GRCm38) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AGTGAGTCATCCCCAGACTG -3'
(R):5'- CCACAGCTGCTGAGTTTTGG -3'

Sequencing Primer
(F):5'- ATCCCCAGACTGTGCCTG -3'
(R):5'- CTTGAACTCAGGACCTCTGGAAG -3'
Posted On 2021-04-30