Incidental Mutation 'R9262:Sun1'
ID 702309
Institutional Source Beutler Lab
Gene Symbol Sun1
Ensembl Gene ENSMUSG00000036817
Gene Name Sad1 and UNC84 domain containing 1
Synonyms 4632417G13Rik, 5730434D03Rik, Unc84a
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9262 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 139186392-139235595 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 139200918 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 37 (S37P)
Ref Sequence ENSEMBL: ENSMUSP00000114869 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058716] [ENSMUST00000078690] [ENSMUST00000100517] [ENSMUST00000110882] [ENSMUST00000110883] [ENSMUST00000110884] [ENSMUST00000127045] [ENSMUST00000148772] [ENSMUST00000129079] [ENSMUST00000143562] [ENSMUST00000146715]
AlphaFold Q9D666
Predicted Effect probably benign
Transcript: ENSMUST00000058716
SMART Domains Protein: ENSMUSP00000056655
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 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
SMART Domains Protein: ENSMUSP00000077756
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 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: ENSMUST00000127045
SMART Domains Protein: ENSMUSP00000123211
Gene: ENSMUSG00000036817

DomainStartEndE-ValueType
low complexity region 2 10 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000148772
AA Change: S37P
SMART Domains Protein: ENSMUSP00000114869
Gene: ENSMUSG00000036817
AA Change: S37P

DomainStartEndE-ValueType
low complexity region 64 76 N/A INTRINSIC
Pfam:MRP 103 176 1.9e-24 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000129079
AA Change: S5P
SMART Domains Protein: ENSMUSP00000119582
Gene: ENSMUSG00000036817
AA Change: S5P

DomainStartEndE-ValueType
low complexity region 32 44 N/A INTRINSIC
Pfam:MRP 71 131 8.6e-19 PFAM
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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 97% (73/75)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933409G03Rik A T 2: 68,443,375 (GRCm39) H192L unknown Het
Abca4 T A 3: 121,964,639 (GRCm39) C2149S probably damaging Het
Abl2 G A 1: 156,469,820 (GRCm39) G1028D possibly damaging Het
Adgre1 A G 17: 57,754,941 (GRCm39) T680A probably damaging Het
Amn G A 12: 111,237,585 (GRCm39) W10* probably null Het
Ankhd1 G T 18: 36,765,799 (GRCm39) V140F Het
Asnsd1 A T 1: 53,383,934 (GRCm39) N613K probably benign Het
Bbs2 A T 8: 94,807,543 (GRCm39) I417N probably damaging Het
Cad T A 5: 31,225,009 (GRCm39) W971R probably null Het
Cand2 A T 6: 115,759,730 (GRCm39) I134F probably benign Het
Ccdc154 C A 17: 25,389,160 (GRCm39) H453N probably damaging Het
Ccdc168 A G 1: 44,096,269 (GRCm39) S1610P possibly damaging Het
Ccdc7a T A 8: 129,486,277 (GRCm39) H1601L possibly damaging Het
Ccdc9 A C 7: 16,012,400 (GRCm39) S261A probably benign Het
Cdkl3 T A 11: 51,916,702 (GRCm39) S277T probably benign Het
Cipc T A 12: 86,999,497 (GRCm39) Y8* probably null Het
Cramp1 A G 17: 25,232,920 (GRCm39) S27P probably damaging Het
Csf1r A T 18: 61,243,406 (GRCm39) M141L probably benign Het
Csf2rb2 G T 15: 78,168,535 (GRCm39) F873L probably damaging Het
Dchs1 G A 7: 105,404,833 (GRCm39) R2570W probably damaging Het
Dmxl1 A T 18: 49,976,919 (GRCm39) N94Y probably benign Het
Dnajc10 A G 2: 80,176,965 (GRCm39) K640R probably benign Het
Epha8 A C 4: 136,658,995 (GRCm39) H886Q probably benign Het
Fcgbp G C 7: 27,819,952 (GRCm39) D2560H probably damaging Het
Fry T G 5: 150,305,109 (GRCm39) F605V probably damaging Het
Fsip2 A G 2: 82,807,662 (GRCm39) N1327S probably benign Het
Gm12117 T C 11: 33,226,001 (GRCm39) T112A probably benign Het
Gm3604 A T 13: 62,517,697 (GRCm39) N220K probably damaging Het
Gm572 T C 4: 148,735,652 (GRCm39) V27A probably benign Het
Gpr39 A G 1: 125,800,524 (GRCm39) K425R probably benign Het
Heatr3 A G 8: 88,883,097 (GRCm39) D349G probably benign Het
Hip1 A G 5: 135,478,541 (GRCm39) S248P probably damaging Het
Itga11 A G 9: 62,659,678 (GRCm39) probably benign Het
Itga3 C T 11: 94,956,625 (GRCm39) V210I probably benign Het
Jmjd1c T C 10: 67,083,793 (GRCm39) I2173T probably benign Het
Klf13 G A 7: 63,574,456 (GRCm39) Q21* probably null Het
Kmt2a A T 9: 44,731,222 (GRCm39) S3032T probably benign Het
Krt34 T C 11: 99,930,851 (GRCm39) R184G probably benign Het
Krtap16-1 T C 11: 99,876,994 (GRCm39) T137A probably benign Het
Ldc1 A G 4: 130,114,153 (GRCm39) V88A possibly damaging Het
Mgam T C 6: 40,723,422 (GRCm39) probably null Het
Mog T C 17: 37,325,648 (GRCm39) T196A possibly damaging Het
Ms4a6d T C 19: 11,579,216 (GRCm39) Y87C possibly damaging Het
Ndrg4 C T 8: 96,435,812 (GRCm39) probably benign Het
Nsd1 T A 13: 55,394,871 (GRCm39) M927K possibly damaging Het
Or11l3 T A 11: 58,516,282 (GRCm39) M197L probably benign Het
Or4a73 G T 2: 89,421,435 (GRCm39) T8K probably damaging Het
Ovgp1 T C 3: 105,893,883 (GRCm39) probably benign Het
Pcdhac2 A G 18: 37,279,095 (GRCm39) R692G possibly damaging Het
Pcsk4 T A 10: 80,160,864 (GRCm39) S321C probably damaging Het
Pi4ka A G 16: 17,120,859 (GRCm39) F1292L Het
Pigv G T 4: 133,397,110 (GRCm39) P6Q possibly damaging Het
Pkhd1 A C 1: 20,618,351 (GRCm39) S927A probably benign Het
Pnpla3 A T 15: 84,055,363 (GRCm39) I90F probably benign Het
Pole C A 5: 110,473,422 (GRCm39) L1739I probably damaging Het
Pole T A 5: 110,473,423 (GRCm39) L1739H probably damaging Het
Rbm12 A T 2: 155,939,317 (GRCm39) N318K possibly damaging Het
Rpl18a A T 8: 71,348,179 (GRCm39) L168Q probably benign Het
Ryr2 T C 13: 11,765,854 (GRCm39) N1294S probably damaging Het
Sema5b T C 16: 35,453,223 (GRCm39) L98P possibly damaging Het
Slco1a8 G T 6: 141,926,594 (GRCm39) F597L probably damaging Het
Smg7 A G 1: 152,721,262 (GRCm39) V650A probably damaging Het
Spata31d1e T C 13: 59,890,402 (GRCm39) M473V probably benign Het
Strada C T 11: 106,075,444 (GRCm39) R13Q probably damaging Het
Syce1l T C 8: 114,380,738 (GRCm39) probably null Het
Tdg T A 10: 82,480,507 (GRCm39) F263L probably damaging Het
Tead3 G T 17: 28,560,495 (GRCm39) S36R probably benign Het
Timm44 A G 8: 4,310,621 (GRCm39) L377P probably damaging Het
Tk1 C T 11: 117,716,581 (GRCm39) V9M probably benign Het
Trim36 A G 18: 46,300,506 (GRCm39) Y722H probably benign Het
Ttn A T 2: 76,640,232 (GRCm39) M13792K possibly damaging Het
Unc80 A G 1: 66,594,411 (GRCm39) probably benign Het
Usp46 G T 5: 74,189,965 (GRCm39) A133E probably benign Het
Wnk2 T A 13: 49,221,430 (GRCm39) R1240S probably benign Het
Zfp821 G A 8: 110,450,982 (GRCm39) R325Q probably damaging Het
Other mutations in Sun1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00465:Sun1 APN 5 139,220,440 (GRCm39) critical splice acceptor site probably null
IGL01364:Sun1 APN 5 139,220,496 (GRCm39) missense probably damaging 1.00
IGL02142:Sun1 APN 5 139,216,918 (GRCm39) missense possibly damaging 0.95
IGL02251:Sun1 APN 5 139,227,186 (GRCm39) missense probably damaging 1.00
IGL02939:Sun1 APN 5 139,221,243 (GRCm39) splice site probably benign
IGL03253:Sun1 APN 5 139,209,341 (GRCm39) splice site probably benign
IGL03370:Sun1 APN 5 139,216,886 (GRCm39) missense probably damaging 0.96
PIT4418001:Sun1 UTSW 5 139,212,343 (GRCm39) missense probably damaging 0.97
R0124:Sun1 UTSW 5 139,232,434 (GRCm39) unclassified probably benign
R0145:Sun1 UTSW 5 139,227,166 (GRCm39) missense probably damaging 0.98
R0376:Sun1 UTSW 5 139,212,454 (GRCm39) unclassified probably benign
R0512:Sun1 UTSW 5 139,220,602 (GRCm39) splice site probably benign
R0729:Sun1 UTSW 5 139,223,619 (GRCm39) unclassified probably benign
R0733:Sun1 UTSW 5 139,216,918 (GRCm39) missense possibly damaging 0.63
R1188:Sun1 UTSW 5 139,224,611 (GRCm39) missense probably damaging 0.98
R1724:Sun1 UTSW 5 139,221,480 (GRCm39) missense probably benign
R1733:Sun1 UTSW 5 139,216,544 (GRCm39) missense possibly damaging 0.82
R1913:Sun1 UTSW 5 139,221,487 (GRCm39) critical splice donor site probably null
R2033:Sun1 UTSW 5 139,211,193 (GRCm39) missense probably damaging 1.00
R2200:Sun1 UTSW 5 139,216,974 (GRCm39) missense probably benign 0.11
R3084:Sun1 UTSW 5 139,221,356 (GRCm39) missense probably benign 0.41
R3085:Sun1 UTSW 5 139,221,356 (GRCm39) missense probably benign 0.41
R3771:Sun1 UTSW 5 139,224,575 (GRCm39) unclassified probably benign
R3772:Sun1 UTSW 5 139,224,575 (GRCm39) unclassified probably benign
R3804:Sun1 UTSW 5 139,211,117 (GRCm39) nonsense probably null
R4300:Sun1 UTSW 5 139,213,349 (GRCm39) unclassified probably benign
R4428:Sun1 UTSW 5 139,220,230 (GRCm39) intron probably benign
R4993:Sun1 UTSW 5 139,211,088 (GRCm39) missense possibly damaging 0.84
R5075:Sun1 UTSW 5 139,212,646 (GRCm39) splice site probably null
R5363:Sun1 UTSW 5 139,220,498 (GRCm39) missense probably damaging 1.00
R5826:Sun1 UTSW 5 139,231,171 (GRCm39) missense probably damaging 1.00
R6753:Sun1 UTSW 5 139,201,014 (GRCm39) splice site probably null
R7218:Sun1 UTSW 5 139,212,442 (GRCm39) missense unknown
R7320:Sun1 UTSW 5 139,234,239 (GRCm39) missense probably damaging 1.00
R7448:Sun1 UTSW 5 139,232,589 (GRCm39) missense probably damaging 1.00
R7494:Sun1 UTSW 5 139,221,475 (GRCm39) missense probably benign
R8398:Sun1 UTSW 5 139,222,408 (GRCm39) missense probably damaging 1.00
R8756:Sun1 UTSW 5 139,222,444 (GRCm39) missense probably damaging 0.99
R8772:Sun1 UTSW 5 139,209,447 (GRCm39) missense probably benign 0.00
R8804:Sun1 UTSW 5 139,216,920 (GRCm39) missense probably benign 0.05
R8924:Sun1 UTSW 5 139,209,390 (GRCm39) missense probably damaging 1.00
R9124:Sun1 UTSW 5 139,231,121 (GRCm39) nonsense probably null
R9169:Sun1 UTSW 5 139,219,273 (GRCm39) missense probably benign 0.33
R9558:Sun1 UTSW 5 139,211,019 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TGTACAAGCATGGAGGTCAG -3'
(R):5'- CTCAAGGCCTCCATGATCAC -3'

Sequencing Primer
(F):5'- ATATTGGTTCTGGGATCCAACC -3'
(R):5'- CACTAAGAGTTCAATGCTGTGTGCC -3'
Posted On 2022-03-25