Incidental Mutation 'R7683:C1ql4'
ID 592898
Institutional Source Beutler Lab
Gene Symbol C1ql4
Ensembl Gene ENSMUSG00000001076
Gene Name complement component 1, q subcomponent-like 4
Synonyms
MMRRC Submission 045749-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.123) question?
Stock # R7683 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 98981967-98985698 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 98985092 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 173 (D173G)
Ref Sequence ENSEMBL: ENSMUSP00000068402 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039665] [ENSMUST00000064462] [ENSMUST00000230054]
AlphaFold Q4ZJM9
Predicted Effect probably benign
Transcript: ENSMUST00000039665
SMART Domains Protein: ENSMUSP00000035389
Gene: ENSMUSG00000032783

DomainStartEndE-ValueType
low complexity region 232 246 N/A INTRINSIC
low complexity region 390 407 N/A INTRINSIC
low complexity region 468 479 N/A INTRINSIC
low complexity region 499 511 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000064462
AA Change: D173G

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000068402
Gene: ENSMUSG00000001076
AA Change: D173G

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
C1Q 103 238 2.34e-34 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000230054
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agtpbp1 A G 13: 59,660,312 (GRCm39) C305R probably damaging Het
Anpep C A 7: 79,488,946 (GRCm39) V381L probably damaging Het
Ap5s1 T C 2: 131,054,627 (GRCm39) L146P probably damaging Het
Arhgef11 A G 3: 87,629,690 (GRCm39) I599V probably damaging Het
Arpc2 T C 1: 74,302,973 (GRCm39) Y250H probably damaging Het
Baz1b T A 5: 135,246,582 (GRCm39) M677K probably damaging Het
Begain C T 12: 108,999,413 (GRCm39) A453T unknown Het
Card11 T G 5: 140,881,781 (GRCm39) N461T probably benign Het
Ccdc9 T C 7: 16,018,287 (GRCm39) D7G probably damaging Het
Ces2a T C 8: 105,463,744 (GRCm39) V152A probably benign Het
Chl1 G A 6: 103,668,613 (GRCm39) A449T possibly damaging Het
Col11a1 G T 3: 113,907,385 (GRCm39) G638W unknown Het
Cse1l A T 2: 166,764,708 (GRCm39) T171S probably benign Het
D2hgdh T A 1: 93,766,687 (GRCm39) probably null Het
Dlg4 T C 11: 69,930,680 (GRCm39) Y432H possibly damaging Het
Dmwd C T 7: 18,814,660 (GRCm39) L437F probably damaging Het
F11 T A 8: 45,702,545 (GRCm39) Q251L probably damaging Het
Gtf2f1 T A 17: 57,312,458 (GRCm39) E195V possibly damaging Het
Hap1 A T 11: 100,242,374 (GRCm39) L376Q probably damaging Het
Hars2 T A 18: 36,921,289 (GRCm39) I234N probably damaging Het
Hcfc2 T C 10: 82,535,063 (GRCm39) V29A probably benign Het
Hp C T 8: 110,305,731 (GRCm39) probably benign Het
Hrh1 T C 6: 114,456,748 (GRCm39) S10P probably benign Het
Kcnmb2 A G 3: 32,252,465 (GRCm39) Y222C probably damaging Het
Kdm3a A G 6: 71,576,438 (GRCm39) V792A probably benign Het
Kif13b G A 14: 64,994,956 (GRCm39) V903I probably benign Het
Lars2 G T 9: 123,206,895 (GRCm39) probably null Het
Med7 A G 11: 46,331,687 (GRCm39) D94G possibly damaging Het
Mier3 A G 13: 111,841,846 (GRCm39) T136A probably benign Het
Nin T C 12: 70,124,956 (GRCm39) E122G Het
Or5h18 G T 16: 58,847,469 (GRCm39) T267K probably benign Het
Or6k14 A G 1: 173,927,042 (GRCm39) Q6R probably benign Het
Oxsr1 T C 9: 119,070,821 (GRCm39) I489V probably benign Het
Pdcd6ip A T 9: 113,516,763 (GRCm39) L216Q probably damaging Het
Ppp4r4 T A 12: 103,553,364 (GRCm39) C379* probably null Het
Pramel24 A T 4: 143,453,284 (GRCm39) K131* probably null Het
Ptpn13 T A 5: 103,713,018 (GRCm39) C1714S probably benign Het
Pum2 G A 12: 8,778,922 (GRCm39) R498Q possibly damaging Het
Sema3d T A 5: 12,623,823 (GRCm39) Y577* probably null Het
Slc29a3 G A 10: 60,552,145 (GRCm39) P300S not run Het
Slc5a4b A G 10: 75,899,906 (GRCm39) V444A probably damaging Het
Smad9 A G 3: 54,696,685 (GRCm39) E250G probably damaging Het
Srsf7 A G 17: 80,514,703 (GRCm39) probably benign Het
Thsd7b A G 1: 129,523,683 (GRCm39) Y239C probably damaging Het
Triml2 C A 8: 43,638,325 (GRCm39) Q98K probably damaging Het
Txndc11 A T 16: 10,902,099 (GRCm39) L705Q probably damaging Het
Vmn1r22 A G 6: 57,877,404 (GRCm39) M191T probably damaging Het
Vmn2r89 A T 14: 51,692,651 (GRCm39) K151N probably benign Het
Vwa5a A G 9: 38,646,125 (GRCm39) I498V probably damaging Het
Zfp459 T C 13: 67,556,615 (GRCm39) H156R probably damaging Het
Zscan18 T A 7: 12,503,532 (GRCm39) K676* probably null Het
Other mutations in C1ql4
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1520:C1ql4 UTSW 15 98,985,548 (GRCm39) missense probably benign 0.05
R4939:C1ql4 UTSW 15 98,985,521 (GRCm39) missense probably damaging 0.99
R5200:C1ql4 UTSW 15 98,982,718 (GRCm39) missense probably benign 0.00
R6784:C1ql4 UTSW 15 98,985,290 (GRCm39) missense probably benign 0.05
R7320:C1ql4 UTSW 15 98,985,605 (GRCm39) missense unknown
R7950:C1ql4 UTSW 15 98,982,693 (GRCm39) missense probably benign 0.25
Predicted Primers PCR Primer
(F):5'- CAGGTGATTTTCTTTTCCAGACGC -3'
(R):5'- AATTGCCTTCTACGCGGGTC -3'

Sequencing Primer
(F):5'- CCTCCTCTTTGACTAAATTGAGTGAC -3'
(R):5'- TTCTACGCGGGTCTAAGGC -3'
Posted On 2019-11-12