Mutagenetix > Incidental Mutation

Incidental Mutation 'R6006:Cchcr1'

479508

Institutional Source

Beutler Lab

Gene Symbol

Cchcr1

Ensembl Gene

ENSMUSG00000040312

Gene Name

coiled-coil alpha-helical rod protein 1

Synonyms

Hcr

MMRRC Submission

044183-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.459) question?

Stock #

R6006 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

35827997-35841912 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35835597 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 234 (K234E)

Ref Sequence

ENSEMBL: ENSMUSP00000132028 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045956] [ENSMUST00000164242] [ENSMUST00000173903]

AlphaFold

Q8K2I2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045956
AA Change: K234E

PolyPhen 2 Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000046612
Gene: ENSMUSG00000040312
AA Change: K234E

Domain	Start	End	E-Value	Type
Pfam:HCR	27	767	N/A	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000164242
AA Change: K234E

PolyPhen 2 Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000132028
Gene: ENSMUSG00000040312
AA Change: K234E

Domain	Start	End	E-Value	Type
Pfam:HCR	27	767	N/A	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172893

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173582

Predicted Effect

possibly damaging
Transcript: ENSMUST00000173903
AA Change: K317E

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000133407
Gene: ENSMUSG00000040312
AA Change: K317E

Domain	Start	End	E-Value	Type
Pfam:HCR	110	855	N/A	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173986

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174827

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.3%
20x: 91.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb10	A	G	8: 124,694,804 (GRCm39)	I296T	probably benign	Het
Abcb4	C	A	5: 8,996,026 (GRCm39)	T894K	probably damaging	Het
Acad12	C	T	5: 121,737,299 (GRCm39)	V491I	possibly damaging	Het
Actr8	T	A	14: 29,706,099 (GRCm39)		probably null	Het
Adam7	A	C	14: 68,748,845 (GRCm39)	D467E	probably damaging	Het
Adamts18	A	T	8: 114,433,606 (GRCm39)	C1043S	probably damaging	Het
Adgrb3	T	G	1: 25,865,612 (GRCm39)	D77A	possibly damaging	Het
Arhgap20	T	A	9: 51,761,426 (GRCm39)	D1056E	probably benign	Het
Bco1	A	G	8: 117,840,330 (GRCm39)		probably null	Het
Btn2a2	A	T	13: 23,670,533 (GRCm39)	W67R	probably damaging	Het
Camkmt	A	T	17: 85,759,666 (GRCm39)	N269Y	possibly damaging	Het
Cand1	A	G	10: 119,045,933 (GRCm39)	F991L	possibly damaging	Het
Cd14	T	C	18: 36,859,335 (GRCm39)	D40G	possibly damaging	Het
Cdc73	A	T	1: 143,493,177 (GRCm39)	F386I	probably damaging	Het
Cdk14	C	T	5: 5,299,211 (GRCm39)	M1I	probably null	Het
Cnpy3	A	C	17: 47,047,790 (GRCm39)	S220A	probably benign	Het
Col22a1	A	G	15: 71,845,685 (GRCm39)	V359A	probably damaging	Het
Col6a3	C	A	1: 90,696,105 (GRCm39)	C2654F	unknown	Het
Colgalt2	A	G	1: 152,348,912 (GRCm39)	T186A	probably damaging	Het
Cpsf4l	A	G	11: 113,590,753 (GRCm39)	V199A	probably benign	Het
Dhtkd1	G	A	2: 5,908,836 (GRCm39)	Q753*	probably null	Het
Ep400	A	G	5: 110,852,825 (GRCm39)	S1307P	unknown	Het
Fer1l6	T	C	15: 58,518,893 (GRCm39)	V1675A	probably damaging	Het
Glis1	T	C	4: 107,425,103 (GRCm39)	L238P	probably damaging	Het
Ift70a1	A	G	2: 75,811,832 (GRCm39)	Y84H	probably benign	Het
Iqgap3	T	A	3: 87,998,854 (GRCm39)	D318E	probably damaging	Het
Lats1	T	C	10: 7,581,359 (GRCm39)	F715L	probably damaging	Het
Mlxip	T	C	5: 123,583,721 (GRCm39)	F428S	possibly damaging	Het
Morc3	T	G	16: 93,663,381 (GRCm39)	I528R	possibly damaging	Het
Mtx1	C	T	3: 89,117,613 (GRCm39)	G60D	probably damaging	Het
Mug2	G	C	6: 122,060,459 (GRCm39)	Q1398H	probably null	Het
Mup8	T	C	4: 60,220,403 (GRCm39)	I110V	probably benign	Het
Nfkb1	A	T	3: 135,309,522 (GRCm39)	L12*	probably null	Het
Numa1	G	A	7: 101,641,926 (GRCm39)		probably null	Het
Or52e18	T	G	7: 104,609,870 (GRCm39)	E23A	probably damaging	Het
Pbk	C	T	14: 66,054,094 (GRCm39)	P213L	probably damaging	Het
Pdcd1lg2	T	A	19: 29,431,905 (GRCm39)	H224Q	possibly damaging	Het
Pkp1	C	G	1: 135,805,406 (GRCm39)		probably null	Het
Rela	A	G	19: 5,689,967 (GRCm39)	N139S	probably damaging	Het
Rgs3	G	A	4: 62,542,143 (GRCm39)	R39Q	probably damaging	Het
S1pr3	A	G	13: 51,573,731 (GRCm39)	E304G	probably damaging	Het
Sertad2	G	A	11: 20,597,884 (GRCm39)	G27S	probably benign	Het
Setmar	T	C	6: 108,053,387 (GRCm39)	S294P	possibly damaging	Het
Smc2	A	G	4: 52,459,024 (GRCm39)	N473S	probably benign	Het
Ssr1	TCTCTTTC	T	13: 38,169,972 (GRCm39)		probably null	Het
Tigd2	A	G	6: 59,187,762 (GRCm39)	I210V	possibly damaging	Het
Tmprss9	T	A	10: 80,719,555 (GRCm39)	F93L	possibly damaging	Het
U2surp	T	C	9: 95,361,360 (GRCm39)	Y633C	probably damaging	Het
Usp18	A	T	6: 121,239,781 (GRCm39)	E292V	possibly damaging	Het
Usp32	A	C	11: 84,883,277 (GRCm39)		probably null	Het
Utp18	T	C	11: 93,776,449 (GRCm39)	D12G	probably benign	Het
Vmn1r216	C	A	13: 23,283,928 (GRCm39)	H204N	probably benign	Het
Wdr97	T	C	15: 76,241,372 (GRCm39)	V626A	probably damaging	Het
Wwc1	A	T	11: 35,761,809 (GRCm39)	V619E	probably null	Het
Wwc1	T	C	11: 35,780,100 (GRCm39)	D285G	probably damaging	Het
Zfp3	A	T	11: 70,662,590 (GRCm39)	Q183L	probably benign	Het
Zfp955a	A	G	17: 33,460,660 (GRCm39)	C491R	probably damaging	Het

Other mutations in Cchcr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00488:Cchcr1	APN	17	35,839,469 (GRCm39)	missense	possibly damaging	0.92
IGL02723:Cchcr1	APN	17	35,841,699 (GRCm39)	missense	probably benign	0.00
IGL02806:Cchcr1	APN	17	35,836,153 (GRCm39)	splice site	probably benign
IGL03055:Cchcr1	UTSW	17	35,837,516 (GRCm39)	missense	probably benign	0.33
R0569:Cchcr1	UTSW	17	35,839,865 (GRCm39)	critical splice donor site	probably null
R1438:Cchcr1	UTSW	17	35,841,457 (GRCm39)	critical splice donor site	probably null
R2055:Cchcr1	UTSW	17	35,837,317 (GRCm39)	missense	probably damaging	1.00
R2511:Cchcr1	UTSW	17	35,841,410 (GRCm39)	missense	probably benign	0.01
R3910:Cchcr1	UTSW	17	35,836,233 (GRCm39)	missense	probably damaging	1.00
R3911:Cchcr1	UTSW	17	35,836,233 (GRCm39)	missense	probably damaging	1.00
R3913:Cchcr1	UTSW	17	35,836,233 (GRCm39)	missense	probably damaging	1.00
R5590:Cchcr1	UTSW	17	35,837,577 (GRCm39)	missense	probably damaging	1.00
R5821:Cchcr1	UTSW	17	35,839,745 (GRCm39)	missense	probably damaging	1.00
R5940:Cchcr1	UTSW	17	35,835,890 (GRCm39)	missense	probably damaging	1.00
R5941:Cchcr1	UTSW	17	35,835,890 (GRCm39)	missense	probably damaging	1.00
R6114:Cchcr1	UTSW	17	35,836,227 (GRCm39)	missense	probably damaging	0.98
R6146:Cchcr1	UTSW	17	35,839,475 (GRCm39)	missense	possibly damaging	0.92
R6262:Cchcr1	UTSW	17	35,841,413 (GRCm39)	missense	probably benign	0.04
R6369:Cchcr1	UTSW	17	35,839,073 (GRCm39)	missense	probably damaging	0.99
R6478:Cchcr1	UTSW	17	35,835,600 (GRCm39)	missense	possibly damaging	0.71
R6827:Cchcr1	UTSW	17	35,841,302 (GRCm39)	missense	possibly damaging	0.71
R6860:Cchcr1	UTSW	17	35,840,015 (GRCm39)	missense	possibly damaging	0.85
R7109:Cchcr1	UTSW	17	35,828,838 (GRCm39)	critical splice donor site	probably null
R7276:Cchcr1	UTSW	17	35,840,031 (GRCm39)	missense	possibly damaging	0.46
R7341:Cchcr1	UTSW	17	35,837,610 (GRCm39)	missense	probably benign	0.00
R7404:Cchcr1	UTSW	17	35,835,693 (GRCm39)	missense	probably benign	0.09
R7472:Cchcr1	UTSW	17	35,839,248 (GRCm39)	missense	probably damaging	1.00
R7666:Cchcr1	UTSW	17	35,837,383 (GRCm39)	missense	probably benign	0.01
R8189:Cchcr1	UTSW	17	35,837,563 (GRCm39)	missense	probably benign
R9276:Cchcr1	UTSW	17	35,841,105 (GRCm39)	missense	probably damaging	1.00
R9758:Cchcr1	UTSW	17	35,839,285 (GRCm39)	critical splice donor site	probably null
X0025:Cchcr1	UTSW	17	35,837,573 (GRCm39)	missense	probably benign	0.13
Z1177:Cchcr1	UTSW	17	35,839,560 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CTGAATAGCCTGGAAACGAAAC -3'
(R):5'- ATCTCCATGCTACCTCAGGC -3'

Sequencing Primer
(F):5'- CCTGGAAACGAAACGGGCAG -3'
(R):5'- TCAAGGGCAGCATGGCTTC -3'

Posted On

2017-06-26