Incidental Mutation 'R3771:Sun1'
ID 273266
Institutional Source Beutler Lab
Gene Symbol Sun1
Ensembl Gene ENSMUSG00000036817
Gene Name Sad1 and UNC84 domain containing 1
Synonyms 4632417G13Rik, 5730434D03Rik, Unc84a
MMRRC Submission 040747-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3771 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 139186392-139235595 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 139224575 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000058716] [ENSMUST00000078690] [ENSMUST00000110882] [ENSMUST00000110883] [ENSMUST00000110884]
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: 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 noncoding transcript
Transcript: ENSMUST00000126108
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: 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: ENSMUST00000127310
SMART Domains Protein: ENSMUSP00000114514
Gene: ENSMUSG00000036817

DomainStartEndE-ValueType
low complexity region 1 11 N/A INTRINSIC
PDB:4DXS|A 38 73 3e-6 PDB
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 99% (69/70)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aanat G T 11: 116,487,697 (GRCm39) G132V probably damaging Het
Abcb11 T A 2: 69,159,720 (GRCm39) probably benign Het
Adam26b T A 8: 43,973,751 (GRCm39) D417V probably damaging Het
Ank1 T C 8: 23,613,913 (GRCm39) S1482P probably benign Het
Aoc1l2 T C 6: 48,908,130 (GRCm39) Y377H probably damaging Het
Armc2 C T 10: 41,798,223 (GRCm39) V768M probably damaging Het
Ascc3 C T 10: 50,596,814 (GRCm39) probably benign Het
Birc6 T A 17: 74,925,424 (GRCm39) probably benign Het
Cd109 CATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 9: 78,619,782 (GRCm39) probably benign Het
Cdh12 A T 15: 21,578,640 (GRCm39) probably benign Het
Chd1 A G 17: 17,594,913 (GRCm39) D16G probably damaging Het
Clstn2 A G 9: 97,464,615 (GRCm39) I180T probably damaging Het
Cxcr6 A G 9: 123,639,550 (GRCm39) I184V probably benign Het
Dagla G A 19: 10,225,831 (GRCm39) P778S possibly damaging Het
Ddx19b T C 8: 111,747,613 (GRCm39) K107R probably benign Het
Dpyd G A 3: 119,205,927 (GRCm39) probably null Het
Elf1 T C 14: 79,804,650 (GRCm39) V105A possibly damaging Het
Fam13a T G 6: 58,964,171 (GRCm39) K87T probably benign Het
Fap C A 2: 62,363,354 (GRCm39) S359I probably damaging Het
Fbxo39 T C 11: 72,208,041 (GRCm39) I131T possibly damaging Het
Fmn1 T G 2: 113,412,463 (GRCm39) S996A probably damaging Het
Gm5866 T C 5: 52,740,088 (GRCm39) noncoding transcript Het
Hmcn2 C T 2: 31,250,908 (GRCm39) T790M probably damaging Het
Irf2bp2 T C 8: 127,318,550 (GRCm39) K339E probably damaging Het
Kat6b A G 14: 21,567,166 (GRCm39) D75G probably damaging Het
Kcnab3 A G 11: 69,219,389 (GRCm39) T127A probably damaging Het
Kdm5b G T 1: 134,541,083 (GRCm39) C725F probably damaging Het
Lrp5 G A 19: 3,662,330 (GRCm39) R173C probably damaging Het
Lrrn3 T A 12: 41,502,869 (GRCm39) I483L probably damaging Het
Man2c1 C A 9: 57,047,661 (GRCm39) probably benign Het
Med23 G T 10: 24,778,099 (GRCm39) G810C probably damaging Het
Nhlrc4 T A 17: 26,162,367 (GRCm39) K127* probably null Het
Numb T C 12: 83,846,350 (GRCm39) D344G probably damaging Het
Nup210l T G 3: 90,027,201 (GRCm39) Y194* probably null Het
Ogg1 T C 6: 113,310,804 (GRCm39) V317A possibly damaging Het
Or1o2 T A 17: 37,542,356 (GRCm39) I302F possibly damaging Het
Or6c69c A G 10: 129,911,143 (GRCm39) Y288C probably damaging Het
Pclo A T 5: 14,589,422 (GRCm39) probably null Het
Pnpt1 T C 11: 29,088,174 (GRCm39) M195T probably benign Het
Polr3c T A 3: 96,633,170 (GRCm39) T43S probably damaging Het
Ptprs T C 17: 56,735,978 (GRCm39) T152A possibly damaging Het
Rasl10b A T 11: 83,309,349 (GRCm39) T134S probably benign Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Rnf39 T C 17: 37,258,121 (GRCm39) W96R probably damaging Het
Ros1 G T 10: 52,005,087 (GRCm39) A949E probably damaging Het
Rwdd2a A C 9: 86,456,214 (GRCm39) N130T possibly damaging Het
Scn9a T C 2: 66,313,992 (GRCm39) N1909D probably benign Het
Shisal1 A T 15: 84,290,886 (GRCm39) Y120* probably null Het
Ska3 C T 14: 58,047,534 (GRCm39) V334I probably benign Het
Srebf2 A G 15: 82,066,309 (GRCm39) K579R probably benign Het
Tc2n T A 12: 101,660,833 (GRCm39) Q133L possibly damaging Het
Tecta T C 9: 42,242,292 (GRCm39) T2094A probably damaging Het
Tex2 T C 11: 106,437,720 (GRCm39) D650G unknown Het
Trio A G 15: 27,748,177 (GRCm39) S2492P probably damaging Het
Ttn T C 2: 76,601,711 (GRCm39) T16872A probably benign Het
Ugcg T C 4: 59,189,690 (GRCm39) F16S probably benign Het
Usp16 T C 16: 87,255,571 (GRCm39) M1T probably null Het
Vmn1r60 C A 7: 5,547,710 (GRCm39) C130F possibly damaging Het
Vmn2r101 A G 17: 19,809,919 (GRCm39) D235G probably benign Het
Vpreb3 A T 10: 75,775,800 (GRCm39) V26E probably benign Het
Vps39 C T 2: 120,172,497 (GRCm39) V179I possibly damaging Het
Xrn2 T C 2: 146,903,207 (GRCm39) V765A probably benign Het
Zfp251 A G 15: 76,737,836 (GRCm39) I414T possibly damaging Het
Zfp426 A T 9: 20,384,413 (GRCm39) probably null Het
Zfp61 T C 7: 23,995,406 (GRCm39) M1V probably null 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
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
R9262:Sun1 UTSW 5 139,200,918 (GRCm39) missense unknown
R9558:Sun1 UTSW 5 139,211,019 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GTCAGCCAGAACTCTTACCC -3'
(R):5'- ATCACTCTGACACAGCCAGG -3'

Sequencing Primer
(F):5'- CTGTCCACCCCATAGACATAGAG -3'
(R):5'- ACACAGCCAGGTGAGCTTTTC -3'
Posted On 2015-03-25