Incidental Mutation 'R2392:Chchd7'
ID 247795
Institutional Source Beutler Lab
Gene Symbol Chchd7
Ensembl Gene ENSMUSG00000042198
Gene Name coiled-coil-helix-coiled-coil-helix domain containing 7
Synonyms 1810049H20Rik
MMRRC Submission 040360-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2392 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 3938888-3951046 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 3943381 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000118311 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003369] [ENSMUST00000041122] [ENSMUST00000041122] [ENSMUST00000108386] [ENSMUST00000108386] [ENSMUST00000119307] [ENSMUST00000119307] [ENSMUST00000119307] [ENSMUST00000119307] [ENSMUST00000119403] [ENSMUST00000119403] [ENSMUST00000119403] [ENSMUST00000119403] [ENSMUST00000120732] [ENSMUST00000120732] [ENSMUST00000121110] [ENSMUST00000121110] [ENSMUST00000121110] [ENSMUST00000121110] [ENSMUST00000121651] [ENSMUST00000121651] [ENSMUST00000123769] [ENSMUST00000123769] [ENSMUST00000131746] [ENSMUST00000131746] [ENSMUST00000149544] [ENSMUST00000149544] [ENSMUST00000150618] [ENSMUST00000150618] [ENSMUST00000137439] [ENSMUST00000121210] [ENSMUST00000151543]
AlphaFold Q8K2Q5
Predicted Effect probably benign
Transcript: ENSMUST00000003369
SMART Domains Protein: ENSMUSP00000003369
Gene: ENSMUSG00000003282

DomainStartEndE-ValueType
ZnF_C2H2 34 56 2.2e-2 SMART
ZnF_C2H2 62 86 1.6e-4 SMART
ZnF_C2H2 92 114 1.89e-1 SMART
ZnF_C2H2 121 143 5.99e-4 SMART
ZnF_C2H2 150 172 2.86e-1 SMART
ZnF_C2H2 185 207 1.03e-2 SMART
ZnF_C2H2 213 236 8.94e-3 SMART
low complexity region 364 379 N/A INTRINSIC
low complexity region 396 411 N/A INTRINSIC
low complexity region 471 491 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000041122
SMART Domains Protein: ENSMUSP00000041196
Gene: ENSMUSG00000042198

DomainStartEndE-ValueType
PDB:2LQT|A 1 85 7e-50 PDB
Predicted Effect probably null
Transcript: ENSMUST00000041122
SMART Domains Protein: ENSMUSP00000041196
Gene: ENSMUSG00000042198

DomainStartEndE-ValueType
PDB:2LQT|A 1 85 7e-50 PDB
Predicted Effect probably null
Transcript: ENSMUST00000108386
SMART Domains Protein: ENSMUSP00000104023
Gene: ENSMUSG00000042198

DomainStartEndE-ValueType
PDB:2LQT|A 1 85 7e-50 PDB
Predicted Effect probably null
Transcript: ENSMUST00000108386
SMART Domains Protein: ENSMUSP00000104023
Gene: ENSMUSG00000042198

DomainStartEndE-ValueType
PDB:2LQT|A 1 85 7e-50 PDB
Predicted Effect probably null
Transcript: ENSMUST00000119307
SMART Domains Protein: ENSMUSP00000113811
Gene: ENSMUSG00000042198

DomainStartEndE-ValueType
PDB:2LQT|A 1 85 7e-50 PDB
Predicted Effect probably null
Transcript: ENSMUST00000119307
SMART Domains Protein: ENSMUSP00000113811
Gene: ENSMUSG00000042198

DomainStartEndE-ValueType
PDB:2LQT|A 1 85 7e-50 PDB
Predicted Effect probably null
Transcript: ENSMUST00000119307
SMART Domains Protein: ENSMUSP00000113811
Gene: ENSMUSG00000042198

DomainStartEndE-ValueType
PDB:2LQT|A 1 85 7e-50 PDB
Predicted Effect probably null
Transcript: ENSMUST00000119307
SMART Domains Protein: ENSMUSP00000113811
Gene: ENSMUSG00000042198

DomainStartEndE-ValueType
PDB:2LQT|A 1 85 7e-50 PDB
Predicted Effect probably null
Transcript: ENSMUST00000119403
SMART Domains Protein: ENSMUSP00000113613
Gene: ENSMUSG00000042198

DomainStartEndE-ValueType
PDB:2LQT|A 1 85 7e-50 PDB
Predicted Effect probably null
Transcript: ENSMUST00000119403
SMART Domains Protein: ENSMUSP00000113613
Gene: ENSMUSG00000042198

DomainStartEndE-ValueType
PDB:2LQT|A 1 85 7e-50 PDB
Predicted Effect probably null
Transcript: ENSMUST00000119403
SMART Domains Protein: ENSMUSP00000113613
Gene: ENSMUSG00000042198

DomainStartEndE-ValueType
PDB:2LQT|A 1 85 7e-50 PDB
Predicted Effect probably null
Transcript: ENSMUST00000119403
SMART Domains Protein: ENSMUSP00000113613
Gene: ENSMUSG00000042198

DomainStartEndE-ValueType
PDB:2LQT|A 1 85 7e-50 PDB
Predicted Effect probably null
Transcript: ENSMUST00000120732
SMART Domains Protein: ENSMUSP00000112389
Gene: ENSMUSG00000042198

DomainStartEndE-ValueType
PDB:2LQT|A 1 51 6e-30 PDB
Predicted Effect probably null
Transcript: ENSMUST00000120732
SMART Domains Protein: ENSMUSP00000112389
Gene: ENSMUSG00000042198

DomainStartEndE-ValueType
PDB:2LQT|A 1 51 6e-30 PDB
Predicted Effect probably null
Transcript: ENSMUST00000121110
SMART Domains Protein: ENSMUSP00000113276
Gene: ENSMUSG00000042198

DomainStartEndE-ValueType
PDB:2LQT|A 1 85 7e-50 PDB
Predicted Effect probably null
Transcript: ENSMUST00000121110
SMART Domains Protein: ENSMUSP00000113276
Gene: ENSMUSG00000042198

DomainStartEndE-ValueType
PDB:2LQT|A 1 85 7e-50 PDB
Predicted Effect probably null
Transcript: ENSMUST00000121110
SMART Domains Protein: ENSMUSP00000113276
Gene: ENSMUSG00000042198

DomainStartEndE-ValueType
PDB:2LQT|A 1 85 7e-50 PDB
Predicted Effect probably null
Transcript: ENSMUST00000121110
SMART Domains Protein: ENSMUSP00000113276
Gene: ENSMUSG00000042198

DomainStartEndE-ValueType
PDB:2LQT|A 1 85 7e-50 PDB
Predicted Effect probably null
Transcript: ENSMUST00000121651
SMART Domains Protein: ENSMUSP00000112967
Gene: ENSMUSG00000042198

DomainStartEndE-ValueType
PDB:2LQT|A 1 85 7e-50 PDB
Predicted Effect probably null
Transcript: ENSMUST00000121651
SMART Domains Protein: ENSMUSP00000112967
Gene: ENSMUSG00000042198

DomainStartEndE-ValueType
PDB:2LQT|A 1 85 7e-50 PDB
Predicted Effect probably null
Transcript: ENSMUST00000123769
SMART Domains Protein: ENSMUSP00000117652
Gene: ENSMUSG00000042198

DomainStartEndE-ValueType
PDB:2LQT|A 1 57 3e-33 PDB
Predicted Effect probably null
Transcript: ENSMUST00000123769
SMART Domains Protein: ENSMUSP00000117652
Gene: ENSMUSG00000042198

DomainStartEndE-ValueType
PDB:2LQT|A 1 57 3e-33 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000131746
Predicted Effect probably benign
Transcript: ENSMUST00000131746
Predicted Effect probably null
Transcript: ENSMUST00000149544
SMART Domains Protein: ENSMUSP00000118311
Gene: ENSMUSG00000042198

DomainStartEndE-ValueType
PDB:2LQT|A 1 79 5e-47 PDB
Predicted Effect probably null
Transcript: ENSMUST00000149544
SMART Domains Protein: ENSMUSP00000118311
Gene: ENSMUSG00000042198

DomainStartEndE-ValueType
PDB:2LQT|A 1 79 5e-47 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000150618
SMART Domains Protein: ENSMUSP00000118860
Gene: ENSMUSG00000042198

DomainStartEndE-ValueType
PDB:2LQT|A 1 85 7e-50 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000150618
SMART Domains Protein: ENSMUSP00000118860
Gene: ENSMUSG00000042198

DomainStartEndE-ValueType
PDB:2LQT|A 1 85 7e-50 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151519
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147035
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128829
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137037
Predicted Effect probably benign
Transcript: ENSMUST00000137439
Predicted Effect probably benign
Transcript: ENSMUST00000121210
SMART Domains Protein: ENSMUSP00000113884
Gene: ENSMUSG00000042198

DomainStartEndE-ValueType
PDB:2LQT|A 1 57 1e-30 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000151543
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.1%
Validation Efficiency 96% (53/55)
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A T 1: 71,297,264 (GRCm39) S2409T probably damaging Het
Acap2 A G 16: 30,958,458 (GRCm39) F120S probably damaging Het
Akr1c6 A G 13: 4,484,477 (GRCm39) probably null Het
Bptf C A 11: 106,963,573 (GRCm39) A1874S probably damaging Het
Ccnl1 A G 3: 65,856,173 (GRCm39) V244A probably damaging Het
Cenpe T G 3: 134,953,874 (GRCm39) L1628R probably damaging Het
Cfap54 A G 10: 92,860,873 (GRCm39) probably null Het
Col9a2 C G 4: 120,911,455 (GRCm39) R599G probably damaging Het
Crybg2 G T 4: 133,799,925 (GRCm39) V362L probably benign Het
Ddx11 T A 17: 66,456,968 (GRCm39) V791E probably damaging Het
Disp1 G A 1: 182,868,731 (GRCm39) P1230S probably benign Het
Elp5 T C 11: 69,865,928 (GRCm39) H116R probably benign Het
Epb42 T C 2: 120,860,468 (GRCm39) E177G possibly damaging Het
F13a1 T A 13: 37,127,971 (GRCm39) I336F possibly damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fcsk A G 8: 111,616,356 (GRCm39) M453T probably benign Het
Hacd2 A T 16: 34,926,748 (GRCm39) E249V probably benign Het
Hnrnpf C A 6: 117,901,829 (GRCm39) A371D possibly damaging Het
Jmjd1c A G 10: 67,065,683 (GRCm39) T1703A probably damaging Het
Kcnj13 G A 1: 87,314,622 (GRCm39) T200I possibly damaging Het
Kif1b G A 4: 149,305,077 (GRCm39) T949M possibly damaging Het
Klhl35 G A 7: 99,123,031 (GRCm39) A552T possibly damaging Het
Krt74 A G 15: 101,665,236 (GRCm39) noncoding transcript Het
Krtap14 T A 16: 88,622,597 (GRCm39) probably null Het
Lrrc45 A G 11: 120,610,365 (GRCm39) N492S probably benign Het
Lrrcc1 T A 3: 14,601,580 (GRCm39) N114K probably damaging Het
Mfsd2b T C 12: 4,915,164 (GRCm39) D375G possibly damaging Het
Mgat4a A G 1: 37,537,785 (GRCm39) L44P probably damaging Het
Mttp A C 3: 137,800,782 (GRCm39) D774E probably damaging Het
Myo5a T C 9: 75,116,521 (GRCm39) V1554A probably benign Het
Nes C T 3: 87,883,250 (GRCm39) A503V probably benign Het
Nme8 A G 13: 19,873,113 (GRCm39) probably null Het
Nr4a1 A G 15: 101,172,075 (GRCm39) D583G possibly damaging Het
Or12d17 A G 17: 37,777,310 (GRCm39) Y71C probably damaging Het
Or5k14 A G 16: 58,692,797 (GRCm39) S239P probably damaging Het
Pnpla8 T A 12: 44,358,287 (GRCm39) L746I probably damaging Het
Ppp1r7 A T 1: 93,282,063 (GRCm39) I205F probably benign Het
Psd4 C A 2: 24,284,679 (GRCm39) P181Q probably damaging Het
Ripor2 G A 13: 24,890,206 (GRCm39) V694I probably benign Het
Scn10a A G 9: 119,456,268 (GRCm39) S1185P possibly damaging Het
Sec23b T A 2: 144,427,507 (GRCm39) probably null Het
Slfn2 A G 11: 82,956,154 (GRCm39) N12S possibly damaging Het
Slfn4 A G 11: 83,076,248 (GRCm39) K38R possibly damaging Het
Smarca2 G T 19: 26,618,050 (GRCm39) probably null Het
Taar4 A G 10: 23,837,172 (GRCm39) T261A possibly damaging Het
Tbl2 A G 5: 135,185,368 (GRCm39) D159G probably benign Het
Tmem120a T C 5: 135,770,892 (GRCm39) E55G probably damaging Het
Ttc21b A G 2: 66,037,794 (GRCm39) probably null Het
Vill A T 9: 118,896,628 (GRCm39) probably benign Het
Vmn2r28 A T 7: 5,487,130 (GRCm39) M511K probably damaging Het
Vmn2r81 A T 10: 79,110,516 (GRCm39) D543V probably damaging Het
Wdr95 A G 5: 149,504,135 (GRCm39) T314A probably benign Het
Zbtb8b A G 4: 129,326,982 (GRCm39) I61T probably damaging Het
Other mutations in Chchd7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02943:Chchd7 APN 4 3,942,796 (GRCm39) missense probably damaging 1.00
R0472:Chchd7 UTSW 4 3,943,416 (GRCm39) missense possibly damaging 0.91
R7679:Chchd7 UTSW 4 3,941,297 (GRCm39) missense probably damaging 1.00
R7854:Chchd7 UTSW 4 3,943,422 (GRCm39) missense possibly damaging 0.93
X0026:Chchd7 UTSW 4 3,942,742 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCTGGGTGCATAATCTCTTCAGTG -3'
(R):5'- AAAGTTGCCTGGGATGGAAC -3'

Sequencing Primer
(F):5'- GGTGCATAATCTCTTCAGTGTAAATG -3'
(R):5'- TTGCCTGGGATGGAACCAATAAAG -3'
Posted On 2014-11-11