Incidental Mutation 'R7950:C1ql4'
ID 649520
Institutional Source Beutler Lab
Gene Symbol C1ql4
Ensembl Gene ENSMUSG00000001076
Gene Name complement component 1, q subcomponent-like 4
Synonyms
MMRRC Submission 045995-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.123) question?
Stock # R7950 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 98981967-98985698 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 98982693 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 220 (H220L)
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: H220L

PolyPhen 2 Score 0.253 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000068402
Gene: ENSMUSG00000001076
AA Change: H220L

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: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (47/47)
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf5 G A 17: 43,762,048 (GRCm39) V1248M probably damaging Het
Alb T C 5: 90,620,323 (GRCm39) S478P probably damaging Het
Arhgap17 A G 7: 122,886,039 (GRCm39) S698P probably benign Het
Arhgef5 A G 6: 43,250,859 (GRCm39) T537A possibly damaging Het
Arl6 A T 16: 59,439,094 (GRCm39) probably null Het
Atp13a4 A T 16: 29,268,735 (GRCm39) W540R Het
Birc6 A T 17: 74,900,095 (GRCm39) D1091V probably damaging Het
Bnc1 A G 7: 81,623,250 (GRCm39) V659A probably benign Het
C130074G19Rik T C 1: 184,606,571 (GRCm39) probably null Het
Cacna1s A G 1: 136,028,363 (GRCm39) N1147S probably benign Het
Cc2d2a T C 5: 43,852,638 (GRCm39) probably null Het
Ccl1 T A 11: 82,070,519 (GRCm39) I18L probably benign Het
Cfap410 C T 10: 77,815,601 (GRCm39) T31I probably damaging Het
Ecel1 A T 1: 87,075,991 (GRCm39) Y729N probably damaging Het
Epha4 T A 1: 77,483,833 (GRCm39) I59F probably damaging Het
Filip1l A G 16: 57,390,074 (GRCm39) K221E probably damaging Het
Flnc A G 6: 29,456,381 (GRCm39) E2193G possibly damaging Het
Galnt10 C G 11: 57,674,549 (GRCm39) P513A probably damaging Het
Gm5624 A G 14: 44,798,190 (GRCm39) Y139H Het
Golgb1 A C 16: 36,735,786 (GRCm39) I1719L probably benign Het
Hsf1 T C 15: 76,382,393 (GRCm39) S255P probably benign Het
Ighv2-2 T C 12: 113,551,914 (GRCm39) D108G probably damaging Het
Iho1 T C 9: 108,282,870 (GRCm39) T273A probably benign Het
Kbtbd3 C T 9: 4,316,878 (GRCm39) Q10* probably null Het
Kcnh2 C T 5: 24,538,034 (GRCm39) V110M probably benign Het
Magi3 A C 3: 103,924,005 (GRCm39) L1112W probably damaging Het
Malrd1 T A 2: 16,132,879 (GRCm39) D1933E unknown Het
Mki67 G A 7: 135,301,453 (GRCm39) R1194* probably null Het
Nap1l1 T C 10: 111,328,769 (GRCm39) Y233H probably damaging Het
Napsa A G 7: 44,234,758 (GRCm39) I298V probably benign Het
Nkx6-1 A T 5: 101,811,465 (GRCm39) S212R probably damaging Het
Nlrc4 A T 17: 74,752,610 (GRCm39) I591N probably damaging Het
Or5b114-ps1 T C 19: 13,352,431 (GRCm39) I35T possibly damaging Het
Orc2 T C 1: 58,506,827 (GRCm39) D503G possibly damaging Het
Osbp T A 19: 11,955,612 (GRCm39) S343T probably benign Het
Pcdha6 T G 18: 37,102,479 (GRCm39) D557E probably damaging Het
Pdcd11 AGAGGAGGAGGAGGAGGAGGAGGAG AGAGGAGGAGGAGGAGGAGGAG 19: 47,101,876 (GRCm39) probably benign Het
Ppdpf A G 2: 180,829,650 (GRCm39) Y35C probably benign Het
Scrn2 T A 11: 96,921,755 (GRCm39) L75Q probably damaging Het
Scube3 G A 17: 28,390,200 (GRCm39) V955I probably benign Het
Slc1a1 T C 19: 28,889,161 (GRCm39) V478A probably benign Het
Slc4a4 A G 5: 89,206,137 (GRCm39) probably null Het
Srrm2 T C 17: 24,027,084 (GRCm39) L96P unknown Het
Strn A T 17: 78,977,852 (GRCm39) L175Q 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
R7683:C1ql4 UTSW 15 98,985,092 (GRCm39) missense probably benign 0.11
Predicted Primers PCR Primer
(F):5'- GCCACTTAAAACCCTTGAGC -3'
(R):5'- TCACTTCAGCTCTGCACAGG -3'

Sequencing Primer
(F):5'- TTGAGCCCCAAGAATCCAATCG -3'
(R):5'- GCACAAGAATCAATGGGTCTG -3'
Posted On 2020-09-15