Incidental Mutation 'R6102:Ginm1'
ID 485320
Institutional Source Beutler Lab
Gene Symbol Ginm1
Ensembl Gene ENSMUSG00000040006
Gene Name glycoprotein integral membrane 1
Synonyms BC013529
MMRRC Submission 044252-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6102 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 7767947-7792824 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to T at 7768496 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 323 (T323K)
Ref Sequence ENSEMBL: ENSMUSP00000119129 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039763] [ENSMUST00000124838]
AlphaFold Q91WR6
Predicted Effect probably benign
Transcript: ENSMUST00000039763
AA Change: T322K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000040961
Gene: ENSMUSG00000040006
AA Change: T322K

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
transmembrane domain 260 282 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000124838
AA Change: T323K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000119129
Gene: ENSMUSG00000040006
AA Change: T323K

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
transmembrane domain 261 283 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133796
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.4%
  • 20x: 95.6%
Validation Efficiency 97% (65/67)
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alox12e A G 11: 70,320,023 (GRCm38) I290T possibly damaging Het
Apeh T A 9: 108,086,439 (GRCm38) D559V probably damaging Het
Aspm T A 1: 139,477,459 (GRCm38) Y1361* probably null Het
Atad5 G T 11: 80,111,572 (GRCm38) probably null Het
Ccr4 C T 9: 114,496,493 (GRCm38) probably null Het
Clasrp G A 7: 19,586,468 (GRCm38) probably benign Het
Cldn23 A G 8: 35,825,551 (GRCm38) M261T probably benign Het
Cmya5 T C 13: 93,094,231 (GRCm38) M1450V probably benign Het
Cyp4v3 T A 8: 45,320,160 (GRCm38) E202V probably damaging Het
Dnah7a A T 1: 53,559,140 (GRCm38) V1412E probably benign Het
Dnah9 A G 11: 65,990,516 (GRCm38) S2578P probably damaging Het
Dsc2 T A 18: 20,047,108 (GRCm38) Y196F probably benign Het
Exoc1 T C 5: 76,537,779 (GRCm38) S113P probably damaging Het
Fbxo6 A T 4: 148,149,522 (GRCm38) I39N probably damaging Het
Frs3 C T 17: 47,702,671 (GRCm38) H173Y probably damaging Het
Golgb1 T C 16: 36,912,865 (GRCm38) S825P probably damaging Het
Hs3st3b1 A T 11: 63,921,855 (GRCm38) C11* probably null Het
Ighv3-3 G C 12: 114,196,460 (GRCm38) A110G possibly damaging Het
Igkv6-20 G A 6: 70,335,869 (GRCm38) H107Y probably benign Het
Kcnj16 A G 11: 111,025,577 (GRCm38) E355G probably benign Het
Lig4 C T 8: 9,972,872 (GRCm38) G303S probably damaging Het
Map1b A C 13: 99,425,873 (GRCm38) V2443G unknown Het
Map3k6 T C 4: 133,247,131 (GRCm38) probably null Het
Mmp13 A G 9: 7,276,688 (GRCm38) Q261R probably benign Het
Mphosph9 T A 5: 124,297,709 (GRCm38) I554F possibly damaging Het
Mrgpra3 A T 7: 47,590,149 (GRCm38) F10I possibly damaging Het
Ms4a18 G A 19: 11,013,523 (GRCm38) T69I probably benign Het
Mtmr3 T C 11: 4,487,673 (GRCm38) N927S probably damaging Het
Necab1 T A 4: 14,989,211 (GRCm38) Q188L probably benign Het
Nfatc2 A G 2: 168,519,507 (GRCm38) probably benign Het
Or5i1 T C 2: 87,782,848 (GRCm38) F103L probably damaging Het
Or5p70 T C 7: 108,395,284 (GRCm38) S55P probably damaging Het
Or7g34 T C 9: 19,567,022 (GRCm38) M121V possibly damaging Het
Paip2b A C 6: 83,808,846 (GRCm38) V134G possibly damaging Het
Pax3 T C 1: 78,132,347 (GRCm38) T225A probably damaging Het
Pbx1 C A 1: 168,183,565 (GRCm38) A298S probably benign Het
Pcdhac2 A T 18: 37,146,282 (GRCm38) K772* probably null Het
Pcsk4 A T 10: 80,325,817 (GRCm38) Y163* probably null Het
Plcd3 A G 11: 103,080,644 (GRCm38) V58A probably damaging Het
Plek2 T A 12: 78,900,093 (GRCm38) T57S possibly damaging Het
Plscr2 C T 9: 92,287,668 (GRCm38) T57I probably benign Het
Ppp2r5b A G 19: 6,234,738 (GRCm38) S32P probably benign Het
Ppp3r2 C T 4: 49,682,022 (GRCm38) probably benign Het
Psme4 T A 11: 30,865,567 (GRCm38) L1693H probably damaging Het
Rrbp1 T A 2: 143,988,393 (GRCm38) Q618L probably damaging Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,579,904 (GRCm38) probably benign Het
Rsrc1 C T 3: 66,994,649 (GRCm38) P44L unknown Het
Serpina3b A T 12: 104,134,169 (GRCm38) T337S probably benign Het
Slc18a2 T C 19: 59,293,878 (GRCm38) Y506H probably benign Het
Slc9a9 A G 9: 94,936,429 (GRCm38) Y292C probably benign Het
Spta1 T C 1: 174,224,520 (GRCm38) V1840A probably benign Het
Ssb T C 2: 69,871,208 (GRCm38) *416Q probably null Het
Strada A G 11: 106,168,436 (GRCm38) V209A probably benign Het
Tbc1d31 A T 15: 57,936,093 (GRCm38) D225V probably damaging Het
Tgm4 T C 9: 123,056,535 (GRCm38) F381L probably benign Het
Tmem120b T A 5: 123,115,144 (GRCm38) Y203N probably damaging Het
Tmem176b A G 6: 48,835,934 (GRCm38) V109A probably benign Het
Tnfrsf11a C A 1: 105,819,946 (GRCm38) L201M possibly damaging Het
Ttn C A 2: 76,974,350 (GRCm38) probably null Het
Tubb2a T C 13: 34,075,343 (GRCm38) I155V probably benign Het
Vmn1r5 A G 6: 56,986,114 (GRCm38) D258G probably damaging Het
Vmn2r121 T C X: 124,133,575 (GRCm38) T120A probably benign Het
Vmn2r19 A T 6: 123,329,948 (GRCm38) I472F probably damaging Het
Vwa3a A G 7: 120,776,138 (GRCm38) probably null Het
Zfp273 A G 13: 67,822,347 (GRCm38) Y5C probably damaging Het
Zfp647 G A 15: 76,912,085 (GRCm38) P125L probably damaging Het
Zfp825 A G 13: 74,480,653 (GRCm38) L248P probably damaging Het
Other mutations in Ginm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00272:Ginm1 APN 10 7,792,696 (GRCm38) unclassified probably benign
IGL02474:Ginm1 APN 10 7,777,768 (GRCm38) splice site probably benign
IGL02606:Ginm1 APN 10 7,770,399 (GRCm38) missense probably damaging 0.98
Juniper UTSW 10 7,779,355 (GRCm38) missense probably damaging 1.00
R0010:Ginm1 UTSW 10 7,775,374 (GRCm38) splice site probably benign
R0010:Ginm1 UTSW 10 7,775,374 (GRCm38) splice site probably benign
R0052:Ginm1 UTSW 10 7,779,306 (GRCm38) missense possibly damaging 0.92
R0052:Ginm1 UTSW 10 7,779,306 (GRCm38) missense possibly damaging 0.92
R1901:Ginm1 UTSW 10 7,775,216 (GRCm38) critical splice donor site probably null
R2106:Ginm1 UTSW 10 7,775,326 (GRCm38) missense probably damaging 1.00
R5374:Ginm1 UTSW 10 7,779,314 (GRCm38) missense probably damaging 0.99
R5929:Ginm1 UTSW 10 7,774,050 (GRCm38) missense probably benign 0.16
R6062:Ginm1 UTSW 10 7,775,333 (GRCm38) missense probably benign 0.00
R6792:Ginm1 UTSW 10 7,773,983 (GRCm38) missense probably damaging 1.00
R7326:Ginm1 UTSW 10 7,777,850 (GRCm38) nonsense probably null
R7417:Ginm1 UTSW 10 7,774,080 (GRCm38) missense probably damaging 0.99
R7663:Ginm1 UTSW 10 7,775,362 (GRCm38) missense possibly damaging 0.84
R7757:Ginm1 UTSW 10 7,779,355 (GRCm38) missense probably damaging 1.00
R8237:Ginm1 UTSW 10 7,792,655 (GRCm38) missense unknown
R8437:Ginm1 UTSW 10 7,770,366 (GRCm38) missense probably benign
R9004:Ginm1 UTSW 10 7,775,255 (GRCm38) missense probably damaging 1.00
R9239:Ginm1 UTSW 10 7,774,061 (GRCm38) missense possibly damaging 0.93
Predicted Primers PCR Primer
(F):5'- TCATCTTCTGAACAGCCAGCC -3'
(R):5'- AGTGGTCTGCTCCCTTCTAG -3'

Sequencing Primer
(F):5'- CTGTGCACGGAGCCTCAC -3'
(R):5'- CATTCAGTGTGTTTACTCATGAGCAG -3'
Posted On 2017-08-16