Mutagenetix > Incidental Mutation

Incidental Mutation 'R6327:Cmc2'

510476

Institutional Source

Beutler Lab

Gene Symbol

Cmc2

Ensembl Gene

ENSMUSG00000014633

Gene Name

C-X9-C motif containing 2

Synonyms

1110046L09Rik, 2310061C15Rik

MMRRC Submission

044481-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.222) question?

Stock #

R6327 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

117615424-117648194 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 117620896 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 28 (H28Q)

Ref Sequence

ENSEMBL: ENSMUSP00000120966 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078589] [ENSMUST00000128304] [ENSMUST00000131616] [ENSMUST00000148235] [ENSMUST00000150128]

AlphaFold

Q8K199

Predicted Effect

probably benign
Transcript: ENSMUST00000078589

SMART Domains

Protein: ENSMUSP00000077663
Gene: ENSMUSG00000014633

Domain	Start	End	E-Value	Type
Pfam:Cmc1	1	35	2.2e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000128304

SMART Domains

Protein: ENSMUSP00000120919
Gene: ENSMUSG00000014633

Domain	Start	End	E-Value	Type
Pfam:Cmc1	1	43	2.5e-8	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000131616
AA Change: T43K

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134356

Predicted Effect

probably damaging
Transcript: ENSMUST00000148235
AA Change: H28Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000120966
Gene: ENSMUSG00000014633
AA Change: H28Q

Domain	Start	End	E-Value	Type
Pfam:Cmc1	1	71	5.3e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000150128

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155260

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (43/43)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	C	6: 128,535,655 (GRCm39)		probably null	Het
Birc6	C	A	17: 74,969,774 (GRCm39)	H383Q	probably damaging	Het
C2	C	A	17: 35,083,079 (GRCm39)	A431S	probably benign	Het
C3ar1	C	T	6: 122,827,105 (GRCm39)	V371M	probably damaging	Het
Chd1l	G	A	3: 97,494,483 (GRCm39)	A399V	probably damaging	Het
Ckap2l	A	G	2: 129,127,414 (GRCm39)	S255P	probably damaging	Het
Clca3a1	T	A	3: 144,436,558 (GRCm39)	I842F	probably benign	Het
Col11a2	C	T	17: 34,262,291 (GRCm39)	P176L	probably benign	Het
Csmd3	T	C	15: 47,744,783 (GRCm39)	D1404G	probably damaging	Het
Dld	G	A	12: 31,382,190 (GRCm39)	P506S	probably benign	Het
Dsg3	T	C	18: 20,672,927 (GRCm39)	M866T	probably benign	Het
Ehd1	T	C	19: 6,348,375 (GRCm39)	I451T	possibly damaging	Het
Fosb	T	C	7: 19,041,152 (GRCm39)	T114A	probably benign	Het
Foxd4	T	A	19: 24,878,198 (GRCm39)	M1L	possibly damaging	Het
Fstl5	T	A	3: 76,615,108 (GRCm39)	I723N	probably benign	Het
Gm10549	C	A	18: 33,597,358 (GRCm39)		probably benign	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Hdlbp	A	G	1: 93,357,186 (GRCm39)	S299P	possibly damaging	Het
Mast4	G	A	13: 102,897,890 (GRCm39)	R650C	probably damaging	Het
Micu3	A	G	8: 40,819,238 (GRCm39)	T306A	probably benign	Het
Mylk2	A	G	2: 152,755,613 (GRCm39)	Q259R	possibly damaging	Het
Nfkbiz	T	C	16: 55,642,325 (GRCm39)	N31S	probably damaging	Het
Nisch	A	T	14: 30,893,444 (GRCm39)		probably benign	Het
Nudt17	T	C	3: 96,615,080 (GRCm39)		probably benign	Het
Oprm1	A	C	10: 6,780,063 (GRCm39)	I242L	probably damaging	Het
Or13a26	T	C	7: 140,284,616 (GRCm39)	W151R	probably damaging	Het
Or14c39	T	C	7: 86,343,760 (GRCm39)	V32A	probably benign	Het
Or2y1d	A	C	11: 49,321,828 (GRCm39)	H175P	probably damaging	Het
Otud6b	A	G	4: 14,826,496 (GRCm39)		probably benign	Het
Pamr1	A	T	2: 102,472,519 (GRCm39)	D606V	probably damaging	Het
Pcf11	T	C	7: 92,308,817 (GRCm39)		probably benign	Het
Pom121l2	T	C	13: 22,166,502 (GRCm39)	S258P	probably damaging	Het
Rcsd1	T	A	1: 165,483,403 (GRCm39)	D196V	possibly damaging	Het
Sbf2	C	T	7: 110,040,759 (GRCm39)	R356Q	probably damaging	Het
Serpinf1	A	G	11: 75,304,731 (GRCm39)		probably null	Het
Slc22a30	T	G	19: 8,313,086 (GRCm39)		probably benign	Het
Strn4	G	T	7: 16,550,384 (GRCm39)	S36I	probably benign	Het
Taar6	A	G	10: 23,861,177 (GRCm39)	L123P	probably damaging	Het
Thbs1	G	T	2: 117,943,137 (GRCm39)	R5L	unknown	Het
Timp3	T	C	10: 86,181,650 (GRCm39)	Y174H	probably benign	Het
Trpm2	C	T	10: 77,768,061 (GRCm39)	V813M	probably damaging	Het
Uox	C	T	3: 146,330,332 (GRCm39)	R163*	probably null	Het
Vcan	A	T	13: 89,852,951 (GRCm39)	S670T	probably damaging	Het
Vmn1r65	A	T	7: 6,011,651 (GRCm39)	N194K	possibly damaging	Het

Other mutations in Cmc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02541:Cmc2	APN	8	117,620,883 (GRCm39)	missense	probably benign	0.15
R1242:Cmc2	UTSW	8	117,637,937 (GRCm39)	missense	probably damaging	1.00
R4837:Cmc2	UTSW	8	117,620,879 (GRCm39)	missense	probably damaging	0.98
R6084:Cmc2	UTSW	8	117,616,566 (GRCm39)	utr 3 prime	probably benign
R7680:Cmc2	UTSW	8	117,620,849 (GRCm39)	missense	probably damaging	1.00
R7939:Cmc2	UTSW	8	117,616,513 (GRCm39)	missense	unknown
R7992:Cmc2	UTSW	8	117,616,446 (GRCm39)	nonsense	probably null
R8951:Cmc2	UTSW	8	117,637,904 (GRCm39)	missense	probably damaging	1.00
R9454:Cmc2	UTSW	8	117,616,550 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CAGCAAGCTCAGTCCTCATG -3'
(R):5'- CACGTCATCTCATCATTCAGATTTG -3'

Sequencing Primer
(F):5'- GCTCAGTCCTCATGGTTTTAAAGAG -3'
(R):5'- CATCTCATCATTCAGATTTGTTTGG -3'

Posted On

2018-04-02