Mutagenetix > Incidental Mutation

Incidental Mutation 'R5941:Cchcr1'

460312

Institutional Source

Beutler Lab

Gene Symbol

Cchcr1

Ensembl Gene

ENSMUSG00000040312

Gene Name

coiled-coil alpha-helical rod protein 1

Synonyms

Hcr

MMRRC Submission

044133-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.508) question?

Stock #

R5941 (G1)

Quality Score

162

Status

Validated

Chromosome

Chromosomal Location

35827997-35841912 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 35835890 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 284 (R284Q)

Ref Sequence

ENSEMBL: ENSMUSP00000132028 (fasta)

Gene Model

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

AlphaFold

Q8K2I2

Predicted Effect

probably damaging
Transcript: ENSMUST00000045956
AA Change: R284Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000046612
Gene: ENSMUSG00000040312
AA Change: R284Q

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000164242
AA Change: R284Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000132028
Gene: ENSMUSG00000040312
AA Change: R284Q

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: R367Q

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000133407
Gene: ENSMUSG00000040312
AA Change: R367Q

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

Meta Mutation Damage Score

0.3249

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.2%

Validation Efficiency

97% (95/98)

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm2	T	A	7: 119,190,321 (GRCm39)	D70E	probably damaging	Het
Adamts14	C	T	10: 61,057,674 (GRCm39)	G561R	probably damaging	Het
Alpk3	A	T	7: 80,728,401 (GRCm39)	K510N	probably damaging	Het
Ap3b1	A	G	13: 94,576,781 (GRCm39)	N269D	probably benign	Het
Ap3b1	T	C	13: 94,619,773 (GRCm39)	S144P	probably damaging	Het
Apba2	C	A	7: 64,395,464 (GRCm39)	Q635K	probably benign	Het
Aspg	C	T	12: 112,079,519 (GRCm39)	T99I	probably benign	Het
Atp7b	A	G	8: 22,487,512 (GRCm39)	V1179A	probably damaging	Het
Bbs12	T	C	3: 37,374,197 (GRCm39)	V215A	probably damaging	Het
Bcl2l11	C	A	2: 127,969,703 (GRCm39)		probably benign	Het
Bglap3	T	G	3: 88,283,653 (GRCm39)		probably benign	Het
Cdh26	C	T	2: 178,123,443 (GRCm39)	Q662*	probably null	Het
Cftr	T	A	6: 18,313,645 (GRCm39)	F1290I	probably damaging	Het
Clip3	G	A	7: 29,991,731 (GRCm39)	E36K	probably damaging	Het
Cog2	A	G	8: 125,272,825 (GRCm39)	I541V	probably benign	Het
Cpt1b	A	T	15: 89,309,417 (GRCm39)	W39R	probably damaging	Het
Csmd1	A	G	8: 15,982,471 (GRCm39)	V2732A	probably damaging	Het
Dlec1	A	G	9: 118,955,380 (GRCm39)	D688G	probably damaging	Het
Dnah12	A	G	14: 26,428,022 (GRCm39)	E216G	probably benign	Het
Dnah7b	C	A	1: 46,226,450 (GRCm39)	L1294I	probably damaging	Het
Duox1	T	A	2: 122,174,637 (GRCm39)	L1265Q	probably damaging	Het
Fam91a1	T	A	15: 58,303,166 (GRCm39)	D358E	probably benign	Het
Fat3	A	C	9: 15,910,797 (GRCm39)	I1735S	probably benign	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Gabrr1	T	A	4: 33,162,676 (GRCm39)	M414K	probably benign	Het
Gm21915	A	C	9: 40,581,995 (GRCm39)	E29D	possibly damaging	Het
Gm9955	G	A	18: 24,842,320 (GRCm39)		probably benign	Het
Gpat2	C	A	2: 127,270,195 (GRCm39)	D69E	possibly damaging	Het
Grin2b	T	G	6: 135,713,371 (GRCm39)	I837L	probably damaging	Het
Gucy2g	T	C	19: 55,203,563 (GRCm39)	D745G	probably damaging	Het
H2-Q1	A	G	17: 35,540,332 (GRCm39)	Y139C	probably damaging	Het
Ints2	G	C	11: 86,141,798 (GRCm39)	N216K	probably benign	Het
Jmy	G	A	13: 93,635,333 (GRCm39)	P161L	probably benign	Het
Kctd11	G	A	11: 69,770,799 (GRCm39)	R80W	possibly damaging	Het
Kif7	A	G	7: 79,360,880 (GRCm39)		probably benign	Het
Kifc1	C	T	17: 34,102,059 (GRCm39)		probably benign	Het
Lcor	G	A	19: 41,574,839 (GRCm39)	R1198Q	probably damaging	Het
Mir412	C	A	12: 109,709,733 (GRCm39)		noncoding transcript	Het
Mknk1	T	A	4: 115,733,834 (GRCm39)		probably benign	Het
Mmp16	A	G	4: 18,054,354 (GRCm39)		probably benign	Het
Mmp7	A	G	9: 7,697,646 (GRCm39)	H227R	probably damaging	Het
Myh4	A	C	11: 67,150,126 (GRCm39)	D1861A	probably damaging	Het
Nup205	T	C	6: 35,209,343 (GRCm39)	L1550P	probably damaging	Het
Or10g1	C	T	14: 52,647,525 (GRCm39)	G268D	probably benign	Het
Or2a56	G	T	6: 42,932,650 (GRCm39)	A73S	possibly damaging	Het
Or4c113	T	A	2: 88,884,963 (GRCm39)	H269L	probably benign	Het
Or4c58	T	A	2: 89,674,859 (GRCm39)	I153F	probably benign	Het
Or51af1	A	G	7: 103,141,927 (GRCm39)	S53P	possibly damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pafah1b2	A	T	9: 45,887,405 (GRCm39)	C35*	probably null	Het
Pappa	T	A	4: 65,232,830 (GRCm39)	F1323Y	possibly damaging	Het
Phtf2	A	T	5: 20,979,071 (GRCm39)	F519Y	probably damaging	Het
Pigk	T	C	3: 152,472,150 (GRCm39)	I354T	possibly damaging	Het
Plekha7	T	C	7: 115,724,040 (GRCm39)	D1265G	possibly damaging	Het
Prss12	A	G	3: 123,299,150 (GRCm39)	R641G	probably benign	Het
Prss28	A	G	17: 25,528,717 (GRCm39)	Y53C	probably damaging	Het
Rabgap1	G	T	2: 37,451,908 (GRCm39)	C936F	possibly damaging	Het
Rap1a	T	C	3: 105,639,385 (GRCm39)	I91M	possibly damaging	Het
Rap1gap2	A	T	11: 74,283,063 (GRCm39)	M679K	probably damaging	Het
Rapgef5	T	A	12: 117,692,473 (GRCm39)	L352I	probably damaging	Het
Rhbdl3	G	A	11: 80,222,715 (GRCm39)	V255M	probably benign	Het
Rhot1	T	C	11: 80,141,996 (GRCm39)		probably benign	Het
Rita1	A	C	5: 120,747,626 (GRCm39)	V224G	probably benign	Het
Ryr2	T	A	13: 11,702,788 (GRCm39)	Y2900F	probably damaging	Het
Scaf11	A	C	15: 96,318,189 (GRCm39)	H458Q	probably damaging	Het
Scamp4	T	A	10: 80,448,255 (GRCm39)	S159T	probably benign	Het
Setd5	T	A	6: 113,105,451 (GRCm39)	Y828N	probably damaging	Het
Sh3bp5	C	A	14: 31,099,452 (GRCm39)	R265L	probably benign	Het
Sipa1l2	A	G	8: 126,200,275 (GRCm39)	S684P	probably damaging	Het
Stard9	A	T	2: 120,544,039 (GRCm39)	I4446F	probably damaging	Het
Sult1c2	T	C	17: 54,138,926 (GRCm39)	D217G	probably benign	Het
Supt16	C	A	14: 52,419,653 (GRCm39)	K148N	probably benign	Het
Syne3	G	A	12: 104,913,251 (GRCm39)	S570L	probably benign	Het
Tcf3	G	T	10: 80,248,878 (GRCm39)	D534E	probably benign	Het
Tmed6	G	T	8: 107,790,786 (GRCm39)	T87K	probably damaging	Het
Trbv3	T	C	6: 41,025,335 (GRCm39)	I3T	probably benign	Het
Trbv4	T	A	6: 41,036,563 (GRCm39)	Y29*	probably null	Het
Ttl	A	G	2: 128,917,904 (GRCm39)	N122S	probably benign	Het
Txndc11	T	C	16: 10,892,935 (GRCm39)	T932A	probably benign	Het
Ube2e2	G	A	14: 18,586,910 (GRCm38)	A150V	probably damaging	Het
Ube2ql1	T	C	13: 69,887,459 (GRCm39)	M1V	probably null	Het
Uqcrc1	A	G	9: 108,776,554 (GRCm39)		probably benign	Het
Utrn	T	C	10: 12,362,227 (GRCm39)	D2702G	probably damaging	Het
Vcan	T	A	13: 89,840,810 (GRCm39)	D618V	probably damaging	Het
Vdac3-ps1	A	G	13: 18,205,787 (GRCm39)		noncoding transcript	Het
Wee1	TCCCC	TCCC	7: 109,723,776 (GRCm39)		probably null	Het
Zap70	G	A	1: 36,810,030 (GRCm39)	V47M	probably damaging	Het
Zfp770	A	G	2: 114,028,027 (GRCm39)	M14T	possibly damaging	Het
Zup1	C	T	10: 33,825,458 (GRCm39)	G8D	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
R6006:Cchcr1	UTSW	17	35,835,597 (GRCm39)	missense	possibly damaging	0.83
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'- TCCTGAGTTTCCTAGCCAGG -3'
(R):5'- TCCACAGTGAGGAGTTTAGGG -3'

Sequencing Primer
(F):5'- AAGGAGCTTCTAGACACCTTG -3'
(R):5'- CACAGTGAGGAGTTTAGGGGTCTTG -3'

Posted On

2017-02-28