Mutagenetix > Incidental Mutation

Incidental Mutation 'R9276:Cchcr1'

703344

Institutional Source

Beutler Lab

Gene Symbol

Cchcr1

Ensembl Gene

ENSMUSG00000040312

Gene Name

coiled-coil alpha-helical rod protein 1

Synonyms

Hcr

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.508) question?

Stock #

R9276 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35827997-35841912 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 35841105 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 658 (L658P)

Ref Sequence

ENSEMBL: ENSMUSP00000132028 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025273] [ENSMUST00000045956] [ENSMUST00000164242] [ENSMUST00000173903]

AlphaFold

Q8K2I2

Predicted Effect

probably benign
Transcript: ENSMUST00000025273

SMART Domains

Protein: ENSMUSP00000025273
Gene: ENSMUSG00000024409

Domain	Start	End	E-Value	Type
low complexity region	3	15	N/A	INTRINSIC
Pfam:SPR1	22	135	1.3e-56	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000045956
AA Change: L658P

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

SMART Domains

Protein: ENSMUSP00000046612
Gene: ENSMUSG00000040312
AA Change: L658P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000164242
AA Change: L658P

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

SMART Domains

Protein: ENSMUSP00000132028
Gene: ENSMUSG00000040312
AA Change: L658P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000173903
AA Change: L741P

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000133407
Gene: ENSMUSG00000040312
AA Change: L741P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

99% (83/84)

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9630041A04Rik	A	T	9: 101,819,887 (GRCm39)	R102S	probably benign	Het
Abitram	A	T	4: 56,806,141 (GRCm39)	K184N	probably benign	Het
Acvr2b	C	T	9: 119,231,616 (GRCm39)	T2M	probably benign	Het
Adamtsl3	A	G	7: 82,206,710 (GRCm39)		probably benign	Het
Adcy7	A	G	8: 89,052,014 (GRCm39)	Y894C	probably damaging	Het
Afdn	T	A	17: 14,024,270 (GRCm39)	C59S	probably damaging	Het
Amt	C	A	9: 108,178,410 (GRCm39)	T339K	probably benign	Het
Ankrd27	G	T	7: 35,319,995 (GRCm39)	V639L	probably benign	Het
Anxa10	G	T	8: 62,549,753 (GRCm39)	Q31K	probably damaging	Het
Ap1g2	T	C	14: 55,339,818 (GRCm39)	T454A	probably benign	Het
Boll	A	T	1: 55,399,812 (GRCm39)	I43N	possibly damaging	Het
Cacna1c	T	C	6: 118,601,394 (GRCm39)	D1472G		Het
Calcrl	T	C	2: 84,205,643 (GRCm39)	N16S	probably benign	Het
Ccdc191	C	T	16: 43,764,041 (GRCm39)	Q501*	probably null	Het
Cfap46	A	T	7: 139,201,207 (GRCm39)	C1919S	unknown	Het
Col6a3	G	A	1: 90,735,403 (GRCm39)	L1356F	possibly damaging	Het
Dlc1	A	G	8: 37,046,558 (GRCm39)	S680P	possibly damaging	Het
Dock4	T	G	12: 40,699,404 (GRCm39)	M206R	possibly damaging	Het
Eml5	T	C	12: 98,765,060 (GRCm39)	K1630E	probably damaging	Het
Fat1	A	G	8: 45,488,514 (GRCm39)	T3432A	probably damaging	Het
Fcrl5	G	T	3: 87,343,138 (GRCm39)		probably benign	Het
Fcrla	A	G	1: 170,755,135 (GRCm39)		probably benign	Het
Fut4	C	A	9: 14,662,572 (GRCm39)	D241Y	probably benign	Het
Fzd6	A	G	15: 38,870,962 (GRCm39)		probably benign	Het
Gjc2	T	C	11: 59,068,453 (GRCm39)	T10A	probably damaging	Het
Gle1	C	T	2: 29,829,514 (GRCm39)	H203Y	possibly damaging	Het
Gm5565	A	T	5: 146,096,917 (GRCm39)	I74N	probably damaging	Het
Gnl2	T	A	4: 124,947,250 (GRCm39)	I624K	possibly damaging	Het
Gnpat	C	A	8: 125,614,524 (GRCm39)	N653K	probably benign	Het
Gstcd	A	G	3: 132,777,665 (GRCm39)	L382S	probably damaging	Het
Ipcef1	A	G	10: 6,857,936 (GRCm39)		probably benign	Het
Jmjd7	T	C	2: 119,860,895 (GRCm39)	V115A	possibly damaging	Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Ltbp2	T	G	12: 84,876,885 (GRCm39)	D440A	possibly damaging	Het
Macf1	T	G	4: 123,328,501 (GRCm39)	D4744A	probably damaging	Het
Mapk11	T	C	15: 89,029,372 (GRCm39)	D230G	probably damaging	Het
Mfsd6	A	C	1: 52,747,514 (GRCm39)	Y450*	probably null	Het
Mtmr9	A	G	14: 63,781,001 (GRCm39)	C30R	probably damaging	Het
Ncf1	G	A	5: 134,250,693 (GRCm39)	Q376*	probably null	Het
Ncor2	C	A	5: 125,113,150 (GRCm39)	R296M		Het
Or51ah3	A	T	7: 103,210,004 (GRCm39)	T107S	probably damaging	Het
Or5d37	A	G	2: 87,923,806 (GRCm39)	V158A	probably benign	Het
Or5k8	A	G	16: 58,644,734 (GRCm39)	F113L	probably benign	Het
Or8b57	A	T	9: 40,003,632 (GRCm39)	I210K	possibly damaging	Het
Or8b8	C	A	9: 37,809,415 (GRCm39)	S238R	probably benign	Het
Or8k31-ps1	A	T	2: 86,356,392 (GRCm39)	L43*	probably null	Het
Pate9	A	T	9: 36,445,727 (GRCm39)	C75S	probably damaging	Het
Pcsk6	A	T	7: 65,559,950 (GRCm39)	I92F	probably damaging	Het
Plec	A	G	15: 76,060,445 (GRCm39)	V3164A	probably benign	Het
Prss16	A	G	13: 22,190,175 (GRCm39)		probably benign	Het
Ptch2	T	A	4: 116,967,505 (GRCm39)	H724Q	probably damaging	Het
Pzp	A	T	6: 128,499,077 (GRCm39)	F190Y	probably damaging	Het
Rab6a	A	G	7: 100,275,809 (GRCm39)	T41A	probably benign	Het
Rbm6	A	G	9: 107,660,926 (GRCm39)	L879P	probably damaging	Het
Rem1	T	A	2: 152,469,969 (GRCm39)		probably benign	Het
Rnf17	T	C	14: 56,719,554 (GRCm39)	S935P	probably damaging	Het
Ryr1	C	A	7: 28,802,254 (GRCm39)	V789L	probably damaging	Het
Scgb2b3	A	T	7: 31,059,528 (GRCm39)	M82K	possibly damaging	Het
Sgce	T	A	6: 4,674,585 (GRCm39)	L451F	probably damaging	Het
Slc25a17	A	C	15: 81,207,814 (GRCm39)	V258G	probably benign	Het
Spidr	G	A	16: 15,784,712 (GRCm39)	T452I	probably benign	Het
Tas2r129	A	G	6: 132,928,576 (GRCm39)	N171S	probably benign	Het
Tbc1d24	A	T	17: 24,405,114 (GRCm39)	V10E	probably damaging	Het
Tdo2	T	G	3: 81,876,885 (GRCm39)	M115L	probably benign	Het
Tdrd9	T	C	12: 111,980,935 (GRCm39)		probably null	Het
Tead1	T	A	7: 112,493,601 (GRCm39)	I376N	probably damaging	Het
Tmem26	A	G	10: 68,614,488 (GRCm39)	H301R	possibly damaging	Het
Tnxb	A	G	17: 34,929,134 (GRCm39)	T2726A	possibly damaging	Het
Trim43c	T	C	9: 88,723,966 (GRCm39)	M164T	probably benign	Het
Trpc1	G	A	9: 95,590,288 (GRCm39)	S723L	probably benign	Het
Txndc15	A	G	13: 55,865,914 (GRCm39)	D126G	probably benign	Het
Urb1	C	T	16: 90,569,463 (GRCm39)		probably benign	Het
Usp25	C	T	16: 76,910,721 (GRCm39)	H926Y	probably benign	Het
Uvssa	T	A	5: 33,572,180 (GRCm39)	M700K	possibly damaging	Het
Vdac1	T	A	11: 52,274,789 (GRCm39)	Y146N	probably damaging	Het
Vmn1r231	A	T	17: 21,110,560 (GRCm39)	S118R	probably benign	Het
Vmn1r41	A	G	6: 89,724,080 (GRCm39)	Y207C	probably damaging	Het
Vmn2r79	A	G	7: 86,687,045 (GRCm39)	I809V	probably damaging	Het
Vnn1	G	A	10: 23,776,794 (GRCm39)	G382R	probably damaging	Het
Xcr1	A	T	9: 123,685,680 (GRCm39)	H27Q	probably benign	Het
Yeats2	T	A	16: 19,975,786 (GRCm39)	N94K	probably benign	Het
Zfp28	C	T	7: 6,397,440 (GRCm39)	T625M	probably damaging	Het
Zfp521	T	C	18: 13,977,698 (GRCm39)	Q905R	probably benign	Het
Zfp804b	T	C	5: 6,821,398 (GRCm39)	D555G	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
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
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'- AGGATCCCATGACATCAGCC -3'
(R):5'- CTTGTAACAGAAGAGGAGACCC -3'

Sequencing Primer
(F):5'- TGACATCAGCCCACCCGTG -3'
(R):5'- AGACCCTCCTGCTTCAAGGTG -3'

Posted On

2022-03-25