Incidental Mutation 'R4996:Sp140l2'
ID 385222
Institutional Source Beutler Lab
Gene Symbol Sp140l2
Ensembl Gene ENSMUSG00000052477
Gene Name Sp140 nuclear body protein like 2
Synonyms OTTMUSG00000029174, C130026I21Rik
MMRRC Submission 042590-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.415) question?
Stock # R4996 (G1)
Quality Score 108
Status Not validated
Chromosome 1
Chromosomal Location 85219007-85260602 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 85224815 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 240 (A240E)
Ref Sequence ENSEMBL: ENSMUSP00000091224 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064341] [ENSMUST00000093506] [ENSMUST00000159582] [ENSMUST00000161267] [ENSMUST00000162421]
AlphaFold Q8C898
Predicted Effect probably benign
Transcript: ENSMUST00000064341
AA Change: A212E

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000066587
Gene: ENSMUSG00000052477
AA Change: A212E

DomainStartEndE-ValueType
Pfam:Sp100 23 125 2.8e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000093506
AA Change: A240E

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000091224
Gene: ENSMUSG00000052477
AA Change: A240E

DomainStartEndE-ValueType
Pfam:Sp100 24 122 1.1e-40 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159114
Predicted Effect probably benign
Transcript: ENSMUST00000159582
SMART Domains Protein: ENSMUSP00000125160
Gene: ENSMUSG00000052477

DomainStartEndE-ValueType
Pfam:Sp100 23 125 6.1e-39 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161267
SMART Domains Protein: ENSMUSP00000124435
Gene: ENSMUSG00000052477

DomainStartEndE-ValueType
Pfam:Sp100 23 119 1.8e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161685
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162347
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166777
Predicted Effect probably benign
Transcript: ENSMUST00000162421
SMART Domains Protein: ENSMUSP00000125215
Gene: ENSMUSG00000052477

DomainStartEndE-ValueType
Pfam:Sp100 40 135 2.2e-39 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 91.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik C T 11: 30,376,349 (GRCm39) V173M probably damaging Het
Actl11 A G 9: 107,808,934 (GRCm39) I1086V possibly damaging Het
Adgrv1 T C 13: 81,726,853 (GRCm39) S500G probably benign Het
Ahcyl1 A T 3: 107,575,603 (GRCm39) V394E probably damaging Het
Alg9 T C 9: 50,720,005 (GRCm39) F494L probably damaging Het
Ankrd55 C A 13: 112,492,622 (GRCm39) D264E possibly damaging Het
Asb14 A G 14: 26,634,073 (GRCm39) N426S possibly damaging Het
Atm A T 9: 53,435,807 (GRCm39) F168I probably benign Het
Atp13a4 A T 16: 29,290,822 (GRCm39) I209N probably damaging Het
BB014433 A T 8: 15,092,166 (GRCm39) L229Q probably benign Het
Calml3 T C 13: 3,854,142 (GRCm39) D21G probably damaging Het
Capn10 A G 1: 92,872,858 (GRCm39) N528S probably damaging Het
Ccnl2 T A 4: 155,897,981 (GRCm39) D141E possibly damaging Het
Cd163 A G 6: 124,296,106 (GRCm39) I817V probably benign Het
Cgnl1 CTTGCCCAGGTT CTT 9: 71,632,108 (GRCm39) probably benign Het
Cln6 T A 9: 62,757,937 (GRCm39) I232N probably damaging Het
Col22a1 A C 15: 71,879,010 (GRCm39) V49G probably damaging Het
Csmd1 A T 8: 15,960,452 (GRCm39) M3321K probably damaging Het
Cyp2u1 T A 3: 131,091,933 (GRCm39) M196L probably benign Het
Dlec1 T G 9: 118,975,118 (GRCm39) L1566R probably damaging Het
Dnajc3 A G 14: 119,209,839 (GRCm39) T305A probably benign Het
Drp2 G A X: 133,342,065 (GRCm39) R567H probably damaging Homo
Efhd1 G T 1: 87,192,280 (GRCm39) G37W possibly damaging Het
Exph5 G C 9: 53,286,910 (GRCm39) E1330D possibly damaging Het
Fbln2 A T 6: 91,242,992 (GRCm39) Y913F probably benign Het
Fmnl1 G A 11: 103,073,482 (GRCm39) S167N possibly damaging Het
Frs3 A G 17: 48,012,635 (GRCm39) E114G probably damaging Het
Gmpr2 T C 14: 55,914,252 (GRCm39) I169T probably damaging Het
Gria2 A G 3: 80,614,448 (GRCm39) S531P probably damaging Het
Hace1 G A 10: 45,526,046 (GRCm39) A296T probably benign Het
Ift70a1 C T 2: 75,810,266 (GRCm39) G606S probably benign Het
Inhbb A C 1: 119,348,548 (GRCm39) L90R probably damaging Het
Insr C T 8: 3,242,665 (GRCm39) R18Q probably null Het
Kdm6b G T 11: 69,296,557 (GRCm39) P570Q probably damaging Het
Lama3 T C 18: 12,651,800 (GRCm39) V1803A probably benign Het
Lpin3 T A 2: 160,747,207 (GRCm39) L811Q probably damaging Het
Lrrc8e C T 8: 4,285,166 (GRCm39) L464F probably damaging Het
Micall2 A G 5: 139,696,344 (GRCm39) S729P probably benign Het
Naca C T 10: 127,878,298 (GRCm39) probably benign Het
Nav1 A T 1: 135,393,709 (GRCm39) S1010T probably damaging Het
Nefm T C 14: 68,358,570 (GRCm39) probably benign Het
Nlrp9c A T 7: 26,085,172 (GRCm39) F136I possibly damaging Het
Nup210 A T 6: 91,030,418 (GRCm39) F137Y probably benign Het
Or1o3 A G 17: 37,573,758 (GRCm39) S266P probably benign Het
Or3a1c A G 11: 74,046,157 (GRCm39) H59R probably damaging Het
Or8k32 T C 2: 86,368,615 (GRCm39) I215V probably benign Het
Otog C A 7: 45,948,030 (GRCm39) H2344N possibly damaging Het
Otog C A 7: 45,954,934 (GRCm39) C517* probably null Het
Pcdhac1 C T 18: 37,225,580 (GRCm39) Q798* probably null Het
Pdhx T C 2: 102,860,657 (GRCm39) D330G probably damaging Het
Peg10 ACATCAGGATCC ACATCAGGATCCCCATCAGGATCC 6: 4,756,454 (GRCm39) probably benign Het
Pgr C A 9: 8,900,914 (GRCm39) P149Q probably damaging Het
Plaat1 G A 16: 29,036,456 (GRCm39) W31* probably null Het
Ppm1h A T 10: 122,777,245 (GRCm39) I504F probably damaging Het
Ppp6r3 A G 19: 3,523,833 (GRCm39) S556P probably damaging Het
Ranbp9 G A 13: 43,578,570 (GRCm39) Q168* probably null Het
Relb A T 7: 19,349,528 (GRCm39) L259Q probably benign Het
Rfx5 G A 3: 94,863,126 (GRCm39) V73I probably benign Het
Rgcc T C 14: 79,527,716 (GRCm39) D125G possibly damaging Het
Rmnd5b A G 11: 51,518,735 (GRCm39) V86A probably damaging Het
Slc15a5 G A 6: 138,020,583 (GRCm39) T250M probably damaging Het
Slc7a2 A T 8: 41,365,599 (GRCm39) K477* probably null Het
Slx9 A T 10: 77,351,367 (GRCm39) W14R probably null Het
Smc2 T A 4: 52,461,042 (GRCm39) probably null Het
Sox5 A T 6: 143,974,070 (GRCm39) L226* probably null Het
Syne2 A G 12: 75,990,724 (GRCm39) E1903G possibly damaging Het
Tenm3 A T 8: 48,688,861 (GRCm39) I2226N probably damaging Het
Tmtc3 A T 10: 100,283,086 (GRCm39) I823N probably damaging Het
Top6bl T A 19: 4,676,112 (GRCm39) K673N probably benign Het
Tor3a T C 1: 156,483,342 (GRCm39) Y360C probably damaging Het
Trpc3 T C 3: 36,716,967 (GRCm39) E357G probably benign Het
Tubgcp6 A T 15: 88,987,693 (GRCm39) N1093K possibly damaging Het
Vmn1r64 T A 7: 5,887,052 (GRCm39) T164S probably benign Het
Vmn2r40 T A 7: 8,911,166 (GRCm39) Q709L probably damaging Het
Vmn2r81 A T 10: 79,129,247 (GRCm39) I713L probably benign Het
Washc5 T C 15: 59,205,484 (GRCm39) T686A probably benign Het
Wipf1 GCCTCCTCCTCCTCCTCCTCCTCC GCCTCCTCCTCCTCCTCCTCC 2: 73,270,418 (GRCm39) probably benign Het
Other mutations in Sp140l2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01866:Sp140l2 APN 1 85,231,907 (GRCm39) intron probably benign
IGL01876:Sp140l2 APN 1 85,231,907 (GRCm39) intron probably benign
IGL01880:Sp140l2 APN 1 85,231,907 (GRCm39) intron probably benign
IGL01883:Sp140l2 APN 1 85,231,907 (GRCm39) intron probably benign
IGL01886:Sp140l2 APN 1 85,231,907 (GRCm39) intron probably benign
IGL01888:Sp140l2 APN 1 85,231,907 (GRCm39) intron probably benign
IGL01893:Sp140l2 APN 1 85,231,907 (GRCm39) intron probably benign
IGL01898:Sp140l2 APN 1 85,231,907 (GRCm39) intron probably benign
IGL01906:Sp140l2 APN 1 85,231,907 (GRCm39) intron probably benign
IGL01908:Sp140l2 APN 1 85,231,907 (GRCm39) intron probably benign
IGL01909:Sp140l2 APN 1 85,231,907 (GRCm39) intron probably benign
IGL01916:Sp140l2 APN 1 85,231,907 (GRCm39) intron probably benign
IGL01918:Sp140l2 APN 1 85,231,907 (GRCm39) intron probably benign
IGL01920:Sp140l2 APN 1 85,231,907 (GRCm39) intron probably benign
IGL01923:Sp140l2 APN 1 85,231,907 (GRCm39) intron probably benign
IGL01928:Sp140l2 APN 1 85,231,907 (GRCm39) intron probably benign
IGL01933:Sp140l2 APN 1 85,231,907 (GRCm39) intron probably benign
IGL01945:Sp140l2 APN 1 85,231,907 (GRCm39) intron probably benign
IGL01949:Sp140l2 APN 1 85,231,907 (GRCm39) intron probably benign
IGL01951:Sp140l2 APN 1 85,231,907 (GRCm39) intron probably benign
IGL01952:Sp140l2 APN 1 85,231,907 (GRCm39) intron probably benign
PIT4131001:Sp140l2 UTSW 1 85,223,395 (GRCm39) intron probably benign
PIT4142001:Sp140l2 UTSW 1 85,223,395 (GRCm39) intron probably benign
R0067:Sp140l2 UTSW 1 85,247,773 (GRCm39) missense probably benign 0.00
R0367:Sp140l2 UTSW 1 85,247,824 (GRCm39) start gained probably benign
R0389:Sp140l2 UTSW 1 85,247,773 (GRCm39) missense probably benign 0.00
R1284:Sp140l2 UTSW 1 85,247,776 (GRCm39) missense probably damaging 0.98
R1620:Sp140l2 UTSW 1 85,231,907 (GRCm39) intron probably benign
R1622:Sp140l2 UTSW 1 85,231,907 (GRCm39) intron probably benign
R1671:Sp140l2 UTSW 1 85,235,106 (GRCm39) critical splice donor site probably null
R3115:Sp140l2 UTSW 1 85,235,106 (GRCm39) intron probably benign
R4120:Sp140l2 UTSW 1 85,237,542 (GRCm39) missense possibly damaging 0.82
R4223:Sp140l2 UTSW 1 85,090,278 (GRCm39) missense probably damaging 0.98
R4947:Sp140l2 UTSW 1 85,090,203 (GRCm39) missense probably damaging 1.00
R5152:Sp140l2 UTSW 1 85,239,581 (GRCm39) missense probably benign 0.04
R6614:Sp140l2 UTSW 1 85,179,781 (GRCm39) splice site probably null
R7675:Sp140l2 UTSW 1 85,224,736 (GRCm39) missense probably benign
R7784:Sp140l2 UTSW 1 85,190,195 (GRCm39) splice site probably null
R7839:Sp140l2 UTSW 1 85,224,736 (GRCm39) missense probably benign
R8010:Sp140l2 UTSW 1 85,224,671 (GRCm39) missense possibly damaging 0.53
R8034:Sp140l2 UTSW 1 85,231,881 (GRCm39) missense probably benign 0.35
R8382:Sp140l2 UTSW 1 85,224,671 (GRCm39) missense possibly damaging 0.53
R8431:Sp140l2 UTSW 1 85,235,170 (GRCm39) missense probably benign 0.00
R8690:Sp140l2 UTSW 1 85,235,170 (GRCm39) missense probably benign 0.00
R8951:Sp140l2 UTSW 1 85,224,671 (GRCm39) missense possibly damaging 0.53
R9150:Sp140l2 UTSW 1 85,091,359 (GRCm39) missense probably damaging 0.96
Z1176:Sp140l2 UTSW 1 85,091,244 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTAACACGGAGGTCATGTATCCC -3'
(R):5'- TTCTTATAAGAGCTCCCTGGGG -3'

Sequencing Primer
(F):5'- GAGGTCATGTATCCCTCGACC -3'
(R):5'- CCTGGGGTGGGAACTTATG -3'
Posted On 2016-05-10