Incidental Mutation 'R4415:Gm597'
ID 326777
Institutional Source Beutler Lab
Gene Symbol Gm597
Ensembl Gene ENSMUSG00000048411
Gene Name predicted gene 597
Synonyms LOC210962
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R4415 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 28776117-28780252 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 28777133 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 606 (Q606L)
Ref Sequence ENSEMBL: ENSMUSP00000058140 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059937]
AlphaFold E9Q8J5
Predicted Effect probably benign
Transcript: ENSMUST00000059937
AA Change: Q606L

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000058140
Gene: ENSMUSG00000048411
AA Change: Q606L

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
low complexity region 112 129 N/A INTRINSIC
Pfam:FAM75 137 472 8.1e-14 PFAM
low complexity region 664 675 N/A INTRINSIC
internal_repeat_1 718 807 1.4e-5 PROSPERO
internal_repeat_1 807 894 1.4e-5 PROSPERO
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110017D15Rik T C 4: 41,505,574 (GRCm38) T183A possibly damaging Het
Ace3 A T 11: 106,005,121 (GRCm38) D631V probably benign Het
Adam17 T C 12: 21,345,701 (GRCm38) I274V possibly damaging Het
Aebp1 A G 11: 5,865,451 (GRCm38) D303G probably damaging Het
B020004C17Rik T C 14: 57,017,417 (GRCm38) *233R probably null Het
Bcl9l C T 9: 44,501,879 (GRCm38) P127S possibly damaging Het
Bdp1 T C 13: 100,030,861 (GRCm38) D2215G probably damaging Het
Caly T C 7: 140,072,680 (GRCm38) T52A probably damaging Het
Ccdc125 T C 13: 100,696,309 (GRCm38) S465P possibly damaging Het
Cdc23 ACC AC 18: 34,637,318 (GRCm38) probably null Het
Colq T C 14: 31,535,688 (GRCm38) K231E probably damaging Het
Fam32a T A 8: 72,221,941 (GRCm38) I77N probably damaging Het
Impdh1 C T 6: 29,209,222 (GRCm38) V49M probably damaging Het
Kcnh7 A G 2: 62,706,073 (GRCm38) I1055T probably damaging Het
Lad1 A G 1: 135,828,746 (GRCm38) D364G probably benign Het
Lama2 G T 10: 26,989,344 (GRCm38) Y947* probably null Het
Myo5b T A 18: 74,580,408 (GRCm38) I108N probably damaging Het
Nvl T C 1: 181,105,114 (GRCm38) T713A probably benign Het
Oit3 T C 10: 59,428,103 (GRCm38) Y403C probably damaging Het
Olfr814 T C 10: 129,873,957 (GRCm38) T267A probably benign Het
Pappa A G 4: 65,305,295 (GRCm38) T1236A probably benign Het
Rcl1 G A 19: 29,118,362 (GRCm38) V116I probably benign Het
Rdh14 G A 12: 10,391,231 (GRCm38) probably null Het
Rfx2 T A 17: 56,787,733 (GRCm38) T204S possibly damaging Het
Rin2 C T 2: 145,860,446 (GRCm38) T354I probably benign Het
Ripor1 T C 8: 105,617,976 (GRCm38) S581P probably benign Het
Rnf213 T A 11: 119,483,964 (GRCm38) V5084E probably damaging Het
Scn9a A T 2: 66,526,693 (GRCm38) V1077E probably damaging Het
Slc15a5 A G 6: 138,079,756 (GRCm38) V54A probably benign Het
Slc35b2 G A 17: 45,566,429 (GRCm38) V161M probably benign Het
Snx19 T A 9: 30,437,483 (GRCm38) L804Q probably damaging Het
Specc1l C A 10: 75,246,328 (GRCm38) N519K possibly damaging Het
Stambp A T 6: 83,557,482 (GRCm38) N274K probably damaging Het
Stox1 T C 10: 62,659,569 (GRCm38) N975S probably benign Het
Tacc3 T G 5: 33,666,684 (GRCm38) probably null Het
Tmem55a C T 4: 14,912,463 (GRCm38) R191C probably damaging Het
Tubb1 G A 2: 174,457,673 (GRCm38) E383K probably benign Het
Ube3b A T 5: 114,412,444 (GRCm38) D844V probably damaging Het
Other mutations in Gm597
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00740:Gm597 APN 1 28,778,651 (GRCm38) missense possibly damaging 0.94
IGL00885:Gm597 APN 1 28,776,845 (GRCm38) missense unknown
IGL01296:Gm597 APN 1 28,777,056 (GRCm38) missense probably benign 0.23
IGL01476:Gm597 APN 1 28,777,453 (GRCm38) missense probably benign 0.04
IGL02125:Gm597 APN 1 28,776,338 (GRCm38) missense possibly damaging 0.91
IGL02410:Gm597 APN 1 28,778,631 (GRCm38) missense probably benign 0.25
IGL02982:Gm597 APN 1 28,778,054 (GRCm38) missense probably damaging 1.00
IGL03031:Gm597 APN 1 28,778,583 (GRCm38) missense probably benign 0.03
IGL03267:Gm597 APN 1 28,777,121 (GRCm38) missense probably damaging 1.00
R0294:Gm597 UTSW 1 28,778,663 (GRCm38) missense probably benign 0.00
R0433:Gm597 UTSW 1 28,777,342 (GRCm38) nonsense probably null
R0485:Gm597 UTSW 1 28,778,142 (GRCm38) missense probably damaging 1.00
R0645:Gm597 UTSW 1 28,776,930 (GRCm38) missense probably damaging 0.99
R0744:Gm597 UTSW 1 28,777,821 (GRCm38) missense possibly damaging 0.46
R0836:Gm597 UTSW 1 28,777,821 (GRCm38) missense possibly damaging 0.46
R1036:Gm597 UTSW 1 28,777,802 (GRCm38) missense probably benign 0.01
R1302:Gm597 UTSW 1 28,776,340 (GRCm38) missense probably benign 0.00
R1394:Gm597 UTSW 1 28,776,809 (GRCm38) missense possibly damaging 0.61
R1395:Gm597 UTSW 1 28,776,809 (GRCm38) missense possibly damaging 0.61
R1514:Gm597 UTSW 1 28,778,748 (GRCm38) missense possibly damaging 0.83
R1535:Gm597 UTSW 1 28,777,424 (GRCm38) missense probably damaging 1.00
R2004:Gm597 UTSW 1 28,777,179 (GRCm38) missense probably damaging 1.00
R2021:Gm597 UTSW 1 28,778,153 (GRCm38) missense probably damaging 0.98
R2022:Gm597 UTSW 1 28,778,153 (GRCm38) missense probably damaging 0.98
R3115:Gm597 UTSW 1 28,776,329 (GRCm38) missense possibly damaging 0.92
R3615:Gm597 UTSW 1 28,776,575 (GRCm38) missense probably benign 0.26
R3616:Gm597 UTSW 1 28,776,575 (GRCm38) missense probably benign 0.26
R3862:Gm597 UTSW 1 28,777,641 (GRCm38) missense probably damaging 0.98
R4067:Gm597 UTSW 1 28,777,631 (GRCm38) missense probably damaging 0.98
R4119:Gm597 UTSW 1 28,777,973 (GRCm38) missense probably damaging 0.99
R5010:Gm597 UTSW 1 28,777,862 (GRCm38) missense possibly damaging 0.52
R5109:Gm597 UTSW 1 28,777,555 (GRCm38) missense possibly damaging 0.46
R5122:Gm597 UTSW 1 28,780,060 (GRCm38) missense probably benign 0.00
R5533:Gm597 UTSW 1 28,778,082 (GRCm38) missense probably damaging 1.00
R6085:Gm597 UTSW 1 28,778,227 (GRCm38) missense possibly damaging 0.55
R6116:Gm597 UTSW 1 28,778,699 (GRCm38) missense probably benign 0.01
R6750:Gm597 UTSW 1 28,777,414 (GRCm38) missense probably damaging 0.98
R6757:Gm597 UTSW 1 28,780,110 (GRCm38) missense probably damaging 0.98
R6774:Gm597 UTSW 1 28,776,893 (GRCm38) missense probably benign 0.00
R7156:Gm597 UTSW 1 28,776,767 (GRCm38) missense possibly damaging 0.53
R7365:Gm597 UTSW 1 28,780,152 (GRCm38) missense probably benign 0.04
R7739:Gm597 UTSW 1 28,777,608 (GRCm38) missense possibly damaging 0.72
R7996:Gm597 UTSW 1 28,778,406 (GRCm38) missense probably damaging 0.98
R8082:Gm597 UTSW 1 28,777,498 (GRCm38) missense probably benign 0.08
R8281:Gm597 UTSW 1 28,778,144 (GRCm38) missense possibly damaging 0.77
R8514:Gm597 UTSW 1 28,778,505 (GRCm38) missense probably damaging 1.00
R8944:Gm597 UTSW 1 28,777,074 (GRCm38) missense probably benign 0.00
R9042:Gm597 UTSW 1 28,776,956 (GRCm38) missense possibly damaging 0.72
R9101:Gm597 UTSW 1 28,776,659 (GRCm38) missense probably benign 0.04
R9106:Gm597 UTSW 1 28,776,894 (GRCm38) missense probably benign 0.00
R9173:Gm597 UTSW 1 28,777,349 (GRCm38) missense probably benign 0.22
R9596:Gm597 UTSW 1 28,776,607 (GRCm38) missense probably benign 0.07
R9632:Gm597 UTSW 1 28,778,039 (GRCm38) missense probably benign 0.20
R9656:Gm597 UTSW 1 28,777,455 (GRCm38) missense probably benign 0.02
R9659:Gm597 UTSW 1 28,777,455 (GRCm38) missense probably benign 0.02
R9661:Gm597 UTSW 1 28,777,455 (GRCm38) missense probably benign 0.02
R9663:Gm597 UTSW 1 28,777,455 (GRCm38) missense probably benign 0.02
R9710:Gm597 UTSW 1 28,778,039 (GRCm38) missense probably benign 0.20
Predicted Primers PCR Primer
(F):5'- CTGAGCCAGAGCATTAATGAGG -3'
(R):5'- GCCAAATGCTTTCTGGTCC -3'

Sequencing Primer
(F):5'- CCAGAGCATTAATGAGGGCTTG -3'
(R):5'- TTTCTGGTCCCAGGAAAAACC -3'
Posted On 2015-07-07