Mutagenetix > Incidental Mutation

Incidental Mutation 'R3911:Cchcr1'

309422

Institutional Source

Beutler Lab

Gene Symbol

Cchcr1

Ensembl Gene

ENSMUSG00000040312

Gene Name

coiled-coil alpha-helical rod protein 1

Synonyms

Hcr

MMRRC Submission

040909-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.335) question?

Stock #

R3911 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

35517100-35531015 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 35525336 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 341 (V341A)

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: V341A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000046612
Gene: ENSMUSG00000040312
AA Change: V341A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000164242
AA Change: V341A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000132028
Gene: ENSMUSG00000040312
AA Change: V341A

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: V424A

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000133407
Gene: ENSMUSG00000040312
AA Change: V424A

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

0.8327

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

100% (71/71)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001C19Rik	AC	A	17: 47,433,423		probably benign	Het
4931409K22Rik	A	T	5: 24,545,442		probably benign	Het
9030624J02Rik	A	G	7: 118,746,390	T49A	possibly damaging	Het
Abcb9	T	A	5: 124,089,846	I111F	probably benign	Het
Abcc12	A	C	8: 86,528,419		probably benign	Het
Adgre1	G	T	17: 57,447,860	V653L	probably damaging	Het
Aebp2	T	A	6: 140,647,981	D230E	probably damaging	Het
Asap3	A	G	4: 136,229,457		probably benign	Het
Bod1l	T	C	5: 41,817,098	E2291G	probably damaging	Het
Casp8	A	T	1: 58,833,705	S267C	probably damaging	Het
Cd2ap	T	A	17: 42,816,089		probably null	Het
Clip1	T	A	5: 123,590,834	E1155D	probably damaging	Het
Cnnm2	A	G	19: 46,877,936	E841G	probably damaging	Het
Cntrl	G	A	2: 35,120,049	R245H	probably damaging	Het
Cyp2b23	A	T	7: 26,681,417	S128T	probably benign	Het
Dhrs11	A	T	11: 84,821,753	I196N	probably damaging	Het
Dnah17	C	T	11: 118,080,849		probably benign	Het
Edc3	A	T	9: 57,748,403	I479F	possibly damaging	Het
Emg1	T	A	6: 124,705,046	M172L	probably benign	Het
Epha7	G	A	4: 28,938,680	V512I	probably benign	Het
Exoc7	T	C	11: 116,306,905	D27G	probably benign	Het
Fasl	C	A	1: 161,788,191	C32F	probably benign	Het
Flg	A	T	3: 93,280,000	H253L	probably benign	Het
Fnip2	A	T	3: 79,479,505	D971E	possibly damaging	Het
Gab2	A	G	7: 97,299,073	Y290C	probably damaging	Het
Gm17067	T	A	7: 42,710,680	I43L	possibly damaging	Het
Gpld1	A	G	13: 24,962,322	Y183C	probably damaging	Het
Gpr137c	C	A	14: 45,278,935	P327T	probably benign	Het
Hepacam2	A	G	6: 3,494,477	M1T	probably null	Het
Ighv5-4	A	T	12: 113,597,440		probably benign	Het
Itgb8	T	A	12: 119,168,005	E635V	possibly damaging	Het
Kat14	T	C	2: 144,404,062	V469A	probably damaging	Het
Kcnj15	C	T	16: 95,296,470	T317I	probably damaging	Het
Kirrel	C	T	3: 87,089,151	M380I	probably null	Het
Klhl18	A	T	9: 110,436,083	L285Q	probably damaging	Het
Krt90	G	A	15: 101,562,783	R15W	probably damaging	Het
Krtap4-8	A	T	11: 99,780,037	C203S	unknown	Het
Lsp1	C	T	7: 142,486,361	S75F	probably damaging	Het
Map1b	A	G	13: 99,431,072	S1714P	unknown	Het
Mcm2	A	G	6: 88,888,252	I481T	probably damaging	Het
Mcpt9	T	C	14: 56,027,679	T122A	probably benign	Het
Megf10	A	T	18: 57,289,393	R947W	probably damaging	Het
Olfr632	A	T	7: 103,937,409	N10Y	possibly damaging	Het
Olfr700	A	T	7: 106,805,865	V199D	probably damaging	Het
Pank4	A	G	4: 154,969,601	Y79C	probably damaging	Het
Pds5b	T	A	5: 150,746,706	N386K	probably benign	Het
Pfkm	A	G	15: 98,125,047	M362V	probably benign	Het
Phc2	T	C	4: 128,743,558		probably null	Het
Pou4f1	C	T	14: 104,466,175	A274T	unknown	Het
Proc	A	G	18: 32,123,705	L303P	probably damaging	Het
Ptk2b	C	T	14: 66,157,068	G821D	possibly damaging	Het
Rlim	T	C	X: 103,962,661	T545A	probably benign	Het
Serpinb6c	T	C	13: 33,893,905	N161D	probably benign	Het
Sf3b1	G	A	1: 55,019,389	Q14*	probably null	Het
Sh3d19	G	A	3: 86,107,227	V442M	possibly damaging	Het
Slc30a8	A	G	15: 52,321,701	I140V	probably benign	Het
Spata1	T	A	3: 146,475,324	N293I	probably damaging	Het
Strap	T	G	6: 137,735,382	C10G	probably damaging	Het
Tcf7	C	A	11: 52,282,966		probably benign	Het
Tmem114	A	T	16: 8,412,190	M116K	probably damaging	Het
Tmem63b	A	G	17: 45,677,958	S113P	probably damaging	Het
Tmtc3	A	C	10: 100,449,026	N582K	probably damaging	Het
Tnfrsf11b	G	A	15: 54,256,182		probably benign	Het
Tns2	T	C	15: 102,113,837		probably null	Het
Trim30a	A	G	7: 104,411,141	V476A	probably damaging	Het
Ush2a	T	A	1: 188,399,954	V791D	probably benign	Het
Vmn2r99	T	C	17: 19,394,373	F785S	possibly damaging	Het
Wdr35	A	T	12: 8,986,077	I283F	probably benign	Het
Wnt10b	G	T	15: 98,774,338	A166E	possibly damaging	Het

Other mutations in Cchcr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00488:Cchcr1	APN	17	35528572	missense	possibly damaging	0.92
IGL02723:Cchcr1	APN	17	35530802	missense	probably benign	0.00
IGL02806:Cchcr1	APN	17	35525256	splice site	probably benign
IGL03055:Cchcr1	UTSW	17	35526619	missense	probably benign	0.33
R0569:Cchcr1	UTSW	17	35528968	critical splice donor site	probably null
R1438:Cchcr1	UTSW	17	35530560	critical splice donor site	probably null
R2055:Cchcr1	UTSW	17	35526420	missense	probably damaging	1.00
R2511:Cchcr1	UTSW	17	35530513	missense	probably benign	0.01
R3910:Cchcr1	UTSW	17	35525336	missense	probably damaging	1.00
R3913:Cchcr1	UTSW	17	35525336	missense	probably damaging	1.00
R5590:Cchcr1	UTSW	17	35526680	missense	probably damaging	1.00
R5821:Cchcr1	UTSW	17	35528848	missense	probably damaging	1.00
R5940:Cchcr1	UTSW	17	35524993	missense	probably damaging	1.00
R5941:Cchcr1	UTSW	17	35524993	missense	probably damaging	1.00
R6006:Cchcr1	UTSW	17	35524700	missense	possibly damaging	0.83
R6114:Cchcr1	UTSW	17	35525330	missense	probably damaging	0.98
R6146:Cchcr1	UTSW	17	35528578	missense	possibly damaging	0.92
R6262:Cchcr1	UTSW	17	35530516	missense	probably benign	0.04
R6369:Cchcr1	UTSW	17	35528176	missense	probably damaging	0.99
R6478:Cchcr1	UTSW	17	35524703	missense	possibly damaging	0.71
R6827:Cchcr1	UTSW	17	35530405	missense	possibly damaging	0.71
R6860:Cchcr1	UTSW	17	35529118	missense	possibly damaging	0.85
R7109:Cchcr1	UTSW	17	35517941	critical splice donor site	probably null
R7276:Cchcr1	UTSW	17	35529134	missense	possibly damaging	0.46
R7341:Cchcr1	UTSW	17	35526713	missense	probably benign	0.00
R7404:Cchcr1	UTSW	17	35524796	missense	probably benign	0.09
R7472:Cchcr1	UTSW	17	35528351	missense	probably damaging	1.00
R7666:Cchcr1	UTSW	17	35526486	missense	probably benign	0.01
R8189:Cchcr1	UTSW	17	35526666	missense	probably benign
R9276:Cchcr1	UTSW	17	35530208	missense	probably damaging	1.00
R9758:Cchcr1	UTSW	17	35528388	critical splice donor site	probably null
X0025:Cchcr1	UTSW	17	35526676	missense	probably benign	0.13
Z1177:Cchcr1	UTSW	17	35528663	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GACCCCTAAACTCCTCACTGTG -3'
(R):5'- AATGTGACGCCTACCCATC -3'

Sequencing Primer
(F):5'- TAAACTCCTCACTGTGGACGG -3'
(R):5'- TTCTAGAACTCAAGCTCCGTGAG -3'

Posted On

2015-04-17