Incidental Mutation 'R4091:Cystm1'
ID 317642
Institutional Source Beutler Lab
Gene Symbol Cystm1
Ensembl Gene ENSMUSG00000046727
Gene Name cysteine-rich transmembrane module containing 1
Synonyms 0610010O12Rik
MMRRC Submission 041626-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4091 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 36481677-36536032 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 36499600 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 5 (N5S)
Ref Sequence ENSEMBL: ENSMUSP00000129683 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050584] [ENSMUST00000139727] [ENSMUST00000144158] [ENSMUST00000152804]
AlphaFold Q8K353
Predicted Effect unknown
Transcript: ENSMUST00000050584
AA Change: N5S
SMART Domains Protein: ENSMUSP00000051708
Gene: ENSMUSG00000046727
AA Change: N5S

DomainStartEndE-ValueType
low complexity region 6 66 N/A INTRINSIC
low complexity region 85 100 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000139727
AA Change: N5S
SMART Domains Protein: ENSMUSP00000115138
Gene: ENSMUSG00000046727
AA Change: N5S

DomainStartEndE-ValueType
low complexity region 6 62 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000144158
AA Change: N5S
SMART Domains Protein: ENSMUSP00000114199
Gene: ENSMUSG00000046727
AA Change: N5S

DomainStartEndE-ValueType
low complexity region 6 66 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145439
Predicted Effect unknown
Transcript: ENSMUST00000152804
AA Change: N5S
SMART Domains Protein: ENSMUSP00000129683
Gene: ENSMUSG00000046727
AA Change: N5S

DomainStartEndE-ValueType
low complexity region 6 66 N/A INTRINSIC
low complexity region 83 102 N/A INTRINSIC
Meta Mutation Damage Score 0.0639 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.1%
Validation Efficiency 98% (61/62)
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik T C 2: 68,575,722 (GRCm39) S674P possibly damaging Het
Abca3 C T 17: 24,616,456 (GRCm39) T966M probably damaging Het
Adam2 A T 14: 66,267,172 (GRCm39) Y696N probably damaging Het
Alas1 G T 9: 106,119,000 (GRCm39) probably null Het
Arhgap25 G T 6: 87,440,017 (GRCm39) S543R probably benign Het
Bckdk C A 7: 127,504,590 (GRCm39) R105S probably damaging Het
Bltp1 G A 3: 37,084,738 (GRCm39) A3897T probably benign Het
Carns1 C T 19: 4,221,682 (GRCm39) R191Q probably damaging Het
Casp8ap2 C A 4: 32,643,611 (GRCm39) P895T probably damaging Het
Col12a1 T A 9: 79,609,646 (GRCm39) I287F probably damaging Het
Dnah8 T C 17: 30,988,813 (GRCm39) V3261A probably damaging Het
Dnajc11 A G 4: 152,062,550 (GRCm39) probably benign Het
Dock4 T C 12: 40,894,266 (GRCm39) S1847P probably damaging Het
Dync2h1 A G 9: 7,131,881 (GRCm39) V1642A probably benign Het
Eftud2 T C 11: 102,730,242 (GRCm39) probably null Het
Fam221b A G 4: 43,665,987 (GRCm39) I208T probably benign Het
Gpr141b T A 13: 19,913,635 (GRCm39) noncoding transcript Het
Gpr37l1 T C 1: 135,089,301 (GRCm39) I255V probably benign Het
Grm7 G A 6: 110,891,301 (GRCm39) S178N probably damaging Het
Hspa12b T A 2: 130,975,408 (GRCm39) probably null Het
Kctd3 A T 1: 188,727,917 (GRCm39) probably benign Het
Kynu G A 2: 43,569,884 (GRCm39) V389M possibly damaging Het
Lcat A G 8: 106,666,538 (GRCm39) L328P probably benign Het
Lrrn2 C T 1: 132,865,390 (GRCm39) Q152* probably null Het
Maml1 G A 11: 50,182,656 (GRCm39) P78L probably benign Het
Mef2b G A 8: 70,617,752 (GRCm39) V37M probably damaging Het
Mindy2 A T 9: 70,541,342 (GRCm39) M281K probably damaging Het
Mon2 C T 10: 122,874,415 (GRCm39) R311H probably damaging Het
Mtr A T 13: 12,245,943 (GRCm39) V394E probably damaging Het
Myh14 T A 7: 44,282,415 (GRCm39) T745S possibly damaging Het
Nme9 T A 9: 99,346,580 (GRCm39) D131E possibly damaging Het
Nphp4 C A 4: 152,631,475 (GRCm39) Q792K probably damaging Het
Nrxn2 T A 19: 6,523,444 (GRCm39) C479S probably damaging Het
Nsmf T C 2: 24,950,871 (GRCm39) I406T probably damaging Het
Or10a49 G A 7: 108,467,650 (GRCm39) A237V probably damaging Het
Or5an9 A T 19: 12,187,143 (GRCm39) D71V probably damaging Het
Or8g28 T A 9: 39,169,330 (GRCm39) I213F possibly damaging Het
Pbrm1 A G 14: 30,757,960 (GRCm39) T197A probably benign Het
Pla2r1 T A 2: 60,262,937 (GRCm39) N1034I probably damaging Het
Rps6-ps2 A G 8: 89,533,319 (GRCm39) noncoding transcript Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Rxfp1 A T 3: 79,552,068 (GRCm39) D744E probably benign Het
Samd9l T C 6: 3,376,887 (GRCm39) N125D probably benign Het
Serpina3a G A 12: 104,082,625 (GRCm39) V133I probably benign Het
Slc22a30 C T 19: 8,381,909 (GRCm39) V121M probably damaging Het
Smarcc1 T A 9: 109,993,897 (GRCm39) D247E possibly damaging Het
Smg9 T A 7: 24,120,292 (GRCm39) L422Q probably null Het
Speer3 C G 5: 13,846,394 (GRCm39) A238G possibly damaging Het
Tle5 G A 10: 81,401,418 (GRCm39) G162D probably damaging Het
Ttc23l CT CTTGGATT 15: 10,537,648 (GRCm39) probably benign Het
Ttc23l G A 15: 10,537,652 (GRCm39) S206L probably benign Het
Utrn T A 10: 12,585,915 (GRCm39) D954V probably benign Het
Vmn1r227 T A 17: 20,955,778 (GRCm39) noncoding transcript Het
Vmn2r11 A C 5: 109,202,616 (GRCm39) probably null Het
Vmn2r84 A T 10: 130,227,238 (GRCm39) M200K probably damaging Het
Vmn2r88 T A 14: 51,652,883 (GRCm39) Y469N probably damaging Het
Wdcp A G 12: 4,905,279 (GRCm39) N600S probably null Het
Wdfy4 T G 14: 32,847,837 (GRCm39) R838S possibly damaging Het
Other mutations in Cystm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00590:Cystm1 APN 18 36,499,728 (GRCm39) missense unknown
R1865:Cystm1 UTSW 18 36,499,729 (GRCm39) missense unknown
R4745:Cystm1 UTSW 18 36,526,348 (GRCm39) intron probably benign
R8350:Cystm1 UTSW 18 36,526,303 (GRCm39) intron probably benign
Predicted Primers PCR Primer
(F):5'- CCTCCTCTCTGGGATAGAAGTG -3'
(R):5'- TACCTGTGGTCTTAGGAGGC -3'

Sequencing Primer
(F):5'- CTCTCTGGGATAGAAGTGAGGAC -3'
(R):5'- AGGCTCCTGAGGTCCAC -3'
Posted On 2015-05-15