Incidental Mutation 'R9527:Catip'
ID 719294
Institutional Source Beutler Lab
Gene Symbol Catip
Ensembl Gene ENSMUSG00000073650
Gene Name ciliogenesis associated TTC17 interacting protein
Synonyms LOC241112, Gm216
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9527 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 74401272-74408482 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 74401637 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 38 (N38S)
Ref Sequence ENSEMBL: ENSMUSP00000117442 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097697] [ENSMUST00000128445] [ENSMUST00000191010]
AlphaFold B9EKE5
Predicted Effect probably benign
Transcript: ENSMUST00000097697
SMART Domains Protein: ENSMUSP00000095303
Gene: ENSMUSG00000073650

DomainStartEndE-ValueType
low complexity region 67 83 N/A INTRINSIC
low complexity region 299 307 N/A INTRINSIC
coiled coil region 341 383 N/A INTRINSIC
low complexity region 473 499 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000128445
AA Change: N38S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000117442
Gene: ENSMUSG00000073650
AA Change: N38S

DomainStartEndE-ValueType
low complexity region 7 24 N/A INTRINSIC
low complexity region 111 127 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000191010
SMART Domains Protein: ENSMUSP00000141181
Gene: ENSMUSG00000073650

DomainStartEndE-ValueType
low complexity region 86 102 N/A INTRINSIC
low complexity region 318 326 N/A INTRINSIC
coiled coil region 360 402 N/A INTRINSIC
low complexity region 492 518 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acoxl A G 2: 127,886,284 (GRCm39) D453G probably benign Het
Aqr A C 2: 113,932,037 (GRCm39) S1443R probably benign Het
Atr T C 9: 95,767,429 (GRCm39) M1162T probably damaging Het
Bicdl1 T A 5: 115,811,188 (GRCm39) N241I possibly damaging Het
Cct6b A G 11: 82,630,447 (GRCm39) probably null Het
Clspn A T 4: 126,453,792 (GRCm39) R72* probably null Het
Cntln A G 4: 84,892,120 (GRCm39) Q335R probably damaging Het
Col9a2 T C 4: 120,899,528 (GRCm39) probably null Het
Dip2c A G 13: 9,544,875 (GRCm39) N55D unknown Het
Dnajc5b A T 3: 19,633,248 (GRCm39) D157V probably damaging Het
Exoc6 T G 19: 37,558,987 (GRCm39) D86E probably benign Het
Fam204a A T 19: 60,208,992 (GRCm39) H87Q probably damaging Het
Fer1l4 A G 2: 155,871,617 (GRCm39) W1388R probably damaging Het
Hcn2 A T 10: 79,570,706 (GRCm39) I642F probably benign Het
Igsf9 C A 1: 172,323,244 (GRCm39) L653M probably damaging Het
Imp4 A G 1: 34,481,991 (GRCm39) E38G probably benign Het
Kirrel1 C A 3: 86,996,912 (GRCm39) E297* probably null Het
Krt82 G A 15: 101,454,558 (GRCm39) T222I probably benign Het
Lysmd1 T C 3: 95,042,156 (GRCm39) L10P probably benign Het
Mcmbp A G 7: 128,305,242 (GRCm39) S509P probably damaging Het
Mms19 A T 19: 41,952,830 (GRCm39) I93N possibly damaging Het
Mtmr7 A G 8: 41,011,345 (GRCm39) F402L possibly damaging Het
Myo1h C T 5: 114,453,098 (GRCm39) R49C Het
Scd3 T C 19: 44,226,816 (GRCm39) Y217H probably benign Het
Snx17 T C 5: 31,353,826 (GRCm39) Y205H probably damaging Het
Spag17 T A 3: 99,970,777 (GRCm39) D1320E probably damaging Het
Tasor2 A T 13: 3,635,191 (GRCm39) S539T possibly damaging Het
Xirp1 C A 9: 119,847,558 (GRCm39) V442L probably damaging Het
Xrcc5 G A 1: 72,369,091 (GRCm39) R315H probably damaging Het
Yju2b A T 8: 84,989,652 (GRCm39) C56S probably damaging Het
Zc3hav1 C A 6: 38,330,913 (GRCm39) C82F probably damaging Het
Zfp787 A G 7: 6,136,027 (GRCm39) F75L probably damaging Het
Zswim3 C T 2: 164,662,285 (GRCm39) T255I probably damaging Het
Other mutations in Catip
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01546:Catip APN 1 74,401,954 (GRCm39) missense probably damaging 1.00
IGL01774:Catip APN 1 74,407,642 (GRCm39) missense probably damaging 1.00
IGL02532:Catip APN 1 74,403,775 (GRCm39) missense probably damaging 0.97
IGL03117:Catip APN 1 74,403,744 (GRCm39) missense probably null 0.02
R0165:Catip UTSW 1 74,407,628 (GRCm39) missense possibly damaging 0.93
R0760:Catip UTSW 1 74,402,118 (GRCm39) splice site probably benign
R1384:Catip UTSW 1 74,403,522 (GRCm39) missense probably benign 0.04
R1538:Catip UTSW 1 74,403,811 (GRCm39) nonsense probably null
R1710:Catip UTSW 1 74,401,929 (GRCm39) missense possibly damaging 0.93
R2255:Catip UTSW 1 74,408,159 (GRCm39) unclassified probably benign
R2323:Catip UTSW 1 74,402,437 (GRCm39) missense probably benign 0.03
R4429:Catip UTSW 1 74,407,891 (GRCm39) unclassified probably benign
R4630:Catip UTSW 1 74,408,072 (GRCm39) unclassified probably benign
R5249:Catip UTSW 1 74,401,954 (GRCm39) missense probably damaging 1.00
R6057:Catip UTSW 1 74,402,077 (GRCm39) missense probably damaging 1.00
R7176:Catip UTSW 1 74,401,941 (GRCm39) missense probably damaging 1.00
R7495:Catip UTSW 1 74,401,851 (GRCm39) missense probably benign 0.01
R7568:Catip UTSW 1 74,408,089 (GRCm39) nonsense probably null
R7635:Catip UTSW 1 74,408,121 (GRCm39) missense unknown
R8084:Catip UTSW 1 74,403,515 (GRCm39) missense probably damaging 0.97
R9104:Catip UTSW 1 74,401,682 (GRCm39) critical splice donor site probably null
R9723:Catip UTSW 1 74,403,745 (GRCm39) missense probably benign 0.02
Z1176:Catip UTSW 1 74,406,948 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGGGATCAGAACCAGGTATCC -3'
(R):5'- AGAAGCTGTCTCTCCAGGCC -3'

Sequencing Primer
(F):5'- GGATCAGAACCAGGTATCCCTACC -3'
(R):5'- ACGTCTCCCATCTCCTAACCAG -3'
Posted On 2022-07-18