Mutagenetix > Incidental Mutations

Incidental Mutation 'R3910:Cchcr1'

309354

Institutional Source

Beutler Lab

Gene Symbol

Cchcr1

Ensembl Gene

ENSMUSG00000040312

Gene Name

coiled-coil alpha-helical rod protein 1

Synonyms

Hcr

MMRRC Submission

040815-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.414) question?

Stock #

R3910 (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

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]

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: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

97% (36/37)

Allele List at MGI

Other mutations in this stock

Total: 30 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
Bod1l	T	C	5: 41,817,098	E2291G	probably damaging	Het
Dsg1c	T	C	18: 20,266,196	V119A	possibly damaging	Het
Fap	A	G	2: 62,556,104	S58P	probably damaging	Het
Flnc	A	T	6: 29,459,427	T2509S	probably damaging	Het
Fnip2	A	T	3: 79,479,505	D971E	possibly damaging	Het
Gab2	A	G	7: 97,299,073	Y290C	probably damaging	Het
Gm7104	C	T	12: 88,284,594		noncoding transcript	Het
Ints10	T	A	8: 68,813,620	S478T	probably damaging	Het
Kirrel	C	T	3: 87,089,151	M380I	probably null	Het
Krt90	G	A	15: 101,562,783	R15W	probably damaging	Het
Lgr5	A	G	10: 115,587,463	S11P	possibly damaging	Het
Mycn	T	A	12: 12,937,280	N372I	probably damaging	Het
Olfr459	A	G	6: 41,772,149	V50A	probably benign	Het
Olfr700	A	T	7: 106,805,865	V199D	probably damaging	Het
Paxbp1	T	A	16: 91,042,681	E117V	probably damaging	Het
Phc2	T	C	4: 128,743,558		probably null	Het
Prr5	T	A	15: 84,703,144	V365E	probably benign	Het
Rev3l	A	G	10: 39,820,556	I521M	probably damaging	Het
Robo3	A	T	9: 37,419,295	Y1002N	probably damaging	Het
Svep1	A	T	4: 58,145,156		probably null	Het
Thsd7a	A	G	6: 12,331,549	V1342A	probably damaging	Het
Tmtc3	A	C	10: 100,449,026	N582K	probably damaging	Het
Tnfrsf11b	G	A	15: 54,256,182		probably benign	Het
Trim30a	A	G	7: 104,411,141	V476A	probably damaging	Het
Ugt1a8	A	G	1: 88,088,048	E61G	possibly damaging	Het
Vmn1r75	A	T	7: 11,880,830	N163I	possibly damaging	Het
Zfp119a	G	A	17: 55,866,520	L108F	probably benign	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
R3911: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
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'- TGACAATGTGACGCCTACCC -3'

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

Posted On

2015-04-17