Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02943:Chchd7'

364614

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Chchd7

Ensembl Gene

ENSMUSG00000042198

Gene Name

coiled-coil-helix-coiled-coil-helix domain containing 7

Synonyms

1810049H20Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02943

Quality Score

Status

Chromosome

Chromosomal Location

3938888-3951046 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 3942796 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 44 (Y44H)

Ref Sequence

ENSEMBL: ENSMUSP00000118860 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003369] [ENSMUST00000041122] [ENSMUST00000108386] [ENSMUST00000119307] [ENSMUST00000119403] [ENSMUST00000120732] [ENSMUST00000121110] [ENSMUST00000121210] [ENSMUST00000123769] [ENSMUST00000149544] [ENSMUST00000150618] [ENSMUST00000121651] [ENSMUST00000131746] [ENSMUST00000151543] [ENSMUST00000137439]

AlphaFold

Q8K2Q5

Predicted Effect

probably benign
Transcript: ENSMUST00000003369

SMART Domains

Protein: ENSMUSP00000003369
Gene: ENSMUSG00000003282

Domain	Start	End	E-Value	Type
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 damaging
Transcript: ENSMUST00000041122
AA Change: Y44H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000041196
Gene: ENSMUSG00000042198
AA Change: Y44H

Domain	Start	End	E-Value	Type
PDB:2LQT\|A	1	85	7e-50	PDB

Predicted Effect

probably damaging
Transcript: ENSMUST00000108386
AA Change: Y44H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104023
Gene: ENSMUSG00000042198
AA Change: Y44H

Domain	Start	End	E-Value	Type
PDB:2LQT\|A	1	85	7e-50	PDB

Predicted Effect

probably damaging
Transcript: ENSMUST00000119307
AA Change: Y44H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113811
Gene: ENSMUSG00000042198
AA Change: Y44H

Domain	Start	End	E-Value	Type
PDB:2LQT\|A	1	85	7e-50	PDB

Predicted Effect

probably damaging
Transcript: ENSMUST00000119403
AA Change: Y44H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113613
Gene: ENSMUSG00000042198
AA Change: Y44H

Domain	Start	End	E-Value	Type
PDB:2LQT\|A	1	85	7e-50	PDB

Predicted Effect

probably damaging
Transcript: ENSMUST00000120732
AA Change: Y44H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112389
Gene: ENSMUSG00000042198
AA Change: Y44H

Domain	Start	End	E-Value	Type
PDB:2LQT\|A	1	51	6e-30	PDB

Predicted Effect

probably damaging
Transcript: ENSMUST00000121110
AA Change: Y44H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113276
Gene: ENSMUSG00000042198
AA Change: Y44H

Domain	Start	End	E-Value	Type
PDB:2LQT\|A	1	85	7e-50	PDB

Predicted Effect

probably damaging
Transcript: ENSMUST00000121210
AA Change: Y44H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113884
Gene: ENSMUSG00000042198
AA Change: Y44H

Domain	Start	End	E-Value	Type
PDB:2LQT\|A	1	57	1e-30	PDB

Predicted Effect

probably damaging
Transcript: ENSMUST00000123769
AA Change: Y44H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000117652
Gene: ENSMUSG00000042198
AA Change: Y44H

Domain	Start	End	E-Value	Type
PDB:2LQT\|A	1	57	3e-33	PDB

Predicted Effect

probably damaging
Transcript: ENSMUST00000149544
AA Change: Y44H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000118311
Gene: ENSMUSG00000042198
AA Change: Y44H

Domain	Start	End	E-Value	Type
PDB:2LQT\|A	1	79	5e-47	PDB

Predicted Effect

probably damaging
Transcript: ENSMUST00000150618
AA Change: Y44H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000118860
Gene: ENSMUSG00000042198
AA Change: Y44H

Domain	Start	End	E-Value	Type
PDB:2LQT\|A	1	85	7e-50	PDB

Predicted Effect

probably damaging
Transcript: ENSMUST00000121651
AA Change: Y44H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112967
Gene: ENSMUSG00000042198
AA Change: Y44H

Domain	Start	End	E-Value	Type
PDB:2LQT\|A	1	85	7e-50	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137037

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128829

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147035

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151519

Predicted Effect

probably benign
Transcript: ENSMUST00000131746

Predicted Effect

probably benign
Transcript: ENSMUST00000151543

Predicted Effect

probably benign
Transcript: ENSMUST00000137439

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akp3	T	A	1: 87,054,091 (GRCm39)	Y236*	probably null	Het
Ankrd13c	C	T	3: 157,653,564 (GRCm39)	T134M	probably damaging	Het
Arhgef18	T	C	8: 3,498,553 (GRCm39)	S529P	probably damaging	Het
Cdkl2	T	A	5: 92,185,103 (GRCm39)	N96I	possibly damaging	Het
Cep57	A	T	9: 13,730,149 (GRCm39)		probably benign	Het
Ciart	T	C	3: 95,786,314 (GRCm39)	I254V	possibly damaging	Het
Cyp2a12	T	C	7: 26,731,967 (GRCm39)	I236T	probably benign	Het
Dlgap5	A	G	14: 47,650,433 (GRCm39)		probably null	Het
Ednra	T	A	8: 78,446,683 (GRCm39)	I132F	probably damaging	Het
En2	T	C	5: 28,371,524 (GRCm39)		probably benign	Het
Fcgbpl1	A	G	7: 27,846,613 (GRCm39)	R1102G	probably damaging	Het
Fsip2	C	A	2: 82,822,701 (GRCm39)	Q6145K	probably benign	Het
Galnt5	A	T	2: 57,889,780 (GRCm39)	D460V	probably damaging	Het
Gm6401	C	T	14: 41,788,851 (GRCm39)	E73K	possibly damaging	Het
Gpr84	T	C	15: 103,217,316 (GRCm39)	I254V	probably benign	Het
Hacd3	A	T	9: 64,897,718 (GRCm39)	I298N	probably damaging	Het
Hyal6	T	A	6: 24,743,438 (GRCm39)	V378E	probably damaging	Het
Il20rb	G	T	9: 100,348,305 (GRCm39)	H210N	probably benign	Het
Iqgap2	A	G	13: 95,798,243 (GRCm39)		probably benign	Het
Itga1	C	T	13: 115,185,832 (GRCm39)	E57K	possibly damaging	Het
Jmjd1c	T	A	10: 67,055,433 (GRCm39)	D571E	probably damaging	Het
Kmt2c	T	C	5: 25,495,821 (GRCm39)	S623G	probably damaging	Het
L3mbtl2	T	A	15: 81,570,456 (GRCm39)	S645T	possibly damaging	Het
Lrp2	A	G	2: 69,285,854 (GRCm39)	V3779A	possibly damaging	Het
Lrpprc	T	C	17: 85,078,878 (GRCm39)	R279G	probably benign	Het
Lurap1l	A	G	4: 80,871,872 (GRCm39)	K122E	probably damaging	Het
Met	T	C	6: 17,535,928 (GRCm39)	Y785H	possibly damaging	Het
Myh3	T	C	11: 66,981,891 (GRCm39)	F796L	probably benign	Het
Myo16	T	C	8: 10,450,595 (GRCm39)		probably benign	Het
Nedd4l	T	C	18: 65,294,723 (GRCm39)		probably null	Het
Nlrp4c	T	C	7: 6,068,974 (GRCm39)	C292R	probably damaging	Het
Nmnat1	A	G	4: 149,557,745 (GRCm39)	L99P	probably damaging	Het
Or1j12	A	T	2: 36,343,051 (GRCm39)	L151F	probably benign	Het
Or5p64	A	G	7: 107,854,623 (GRCm39)	F241L	possibly damaging	Het
Pclo	T	C	5: 14,719,235 (GRCm39)	V1124A	unknown	Het
Phf20l1	A	G	15: 66,466,733 (GRCm39)	Y54C	probably damaging	Het
Postn	T	C	3: 54,285,029 (GRCm39)		probably null	Het
Ppp2r1b	A	G	9: 50,794,885 (GRCm39)	D570G	probably damaging	Het
Prdm2	A	C	4: 142,858,542 (GRCm39)	S1583A	probably benign	Het
Proser1	T	C	3: 53,386,524 (GRCm39)	V802A	probably damaging	Het
Ptprc	A	T	1: 138,027,251 (GRCm39)	N532K	probably damaging	Het
Ptprk	A	G	10: 28,351,172 (GRCm39)	H555R	possibly damaging	Het
Ranbp6	T	C	19: 29,789,524 (GRCm39)	D276G	possibly damaging	Het
Rasgrf2	A	G	13: 92,131,752 (GRCm39)	V635A	probably damaging	Het
Rbm5	T	C	9: 107,621,542 (GRCm39)	Y620C	probably damaging	Het
Sall1	C	T	8: 89,757,749 (GRCm39)	R785H	probably damaging	Het
Slc22a2	G	T	17: 12,828,948 (GRCm39)	L351F	probably damaging	Het
Sorcs3	A	T	19: 48,748,377 (GRCm39)	Q782L	probably benign	Het
Sphkap	A	T	1: 83,254,552 (GRCm39)	S779T	probably damaging	Het
Stxbp2	A	T	8: 3,691,971 (GRCm39)	I538F	probably benign	Het
Tas2r107	T	A	6: 131,636,369 (GRCm39)	M227L	probably damaging	Het
Tecpr2	C	T	12: 110,934,183 (GRCm39)	T1281I	probably benign	Het
Topbp1	T	A	9: 103,205,639 (GRCm39)	V759E	probably benign	Het
Trim2	T	C	3: 84,085,483 (GRCm39)	T504A	probably benign	Het
Trpc1	A	G	9: 95,590,906 (GRCm39)		probably benign	Het
Tssk4	T	A	14: 55,889,023 (GRCm39)	V183E	probably damaging	Het
Vmn1r202	T	C	13: 22,686,364 (GRCm39)	T18A	probably benign	Het
Vmn1r225	T	C	17: 20,722,567 (GRCm39)	S3P	possibly damaging	Het
Vmn2r101	T	A	17: 19,831,666 (GRCm39)	V554E	probably damaging	Het
Vps13a	T	C	19: 16,641,250 (GRCm39)	I2291V	probably damaging	Het
Vps39	A	G	2: 120,169,968 (GRCm39)	S195P	possibly damaging	Het
Zfand4	T	A	6: 116,250,837 (GRCm39)		probably benign	Het

Other mutations in Chchd7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0472:Chchd7	UTSW	4	3,943,416 (GRCm39)	missense	possibly damaging	0.91
R2392:Chchd7	UTSW	4	3,943,381 (GRCm39)	splice site	probably null
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

Posted On

2015-12-18