Mutagenetix > Incidental Mutation

Incidental Mutation 'R2518:Cmtr1'

254130

Institutional Source

Beutler Lab

Gene Symbol

Cmtr1

Ensembl Gene

ENSMUSG00000024019

Gene Name

cap methyltransferase 1

Synonyms

1300018I05Rik, Ftsjd2

MMRRC Submission

040422-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.970) question?

Stock #

R2518 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

29879569-29924953 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 29900954 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 663 (Y663*)

Ref Sequence

ENSEMBL: ENSMUSP00000117838 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024816] [ENSMUST00000129864] [ENSMUST00000130871]

AlphaFold

Q9DBC3

Predicted Effect

probably null
Transcript: ENSMUST00000024816
AA Change: Y223*

SMART Domains

Protein: ENSMUSP00000024816
Gene: ENSMUSG00000024019
AA Change: Y223*

Domain	Start	End	E-Value	Type
G_patch	84	130	1.93e-10	SMART
Pfam:FtsJ	231	448	9.5e-42	PFAM
SCOP:d1ckma2	625	718	4e-3	SMART
WW	752	785	2.05e-5	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127695

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128410

Predicted Effect

probably null
Transcript: ENSMUST00000129864
AA Change: Y43*

SMART Domains

Protein: ENSMUSP00000134356
Gene: ENSMUSG00000024019
AA Change: Y43*

Domain	Start	End	E-Value	Type
PDB:4N4A\|A	1	68	2e-40	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130052

Predicted Effect

probably null
Transcript: ENSMUST00000130871
AA Change: Y663*

SMART Domains

Protein: ENSMUSP00000117838
Gene: ENSMUSG00000098374
AA Change: Y663*

Domain	Start	End	E-Value	Type
FHA	37	92	5.55e-8	SMART
low complexity region	116	130	N/A	INTRINSIC
low complexity region	299	317	N/A	INTRINSIC
RING	406	443	3.64e-7	SMART
G_patch	524	570	1.93e-10	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172516

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172610

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	A	G	8: 25,127,157 (GRCm39)	C480R	probably damaging	Het
Aftph	G	T	11: 20,675,797 (GRCm39)	T604K	probably damaging	Het
Bivm	T	C	1: 44,168,775 (GRCm39)	V279A	probably damaging	Het
C2cd2	G	A	16: 97,723,286 (GRCm39)	T77I	probably benign	Het
Ccdc146	T	C	5: 21,510,526 (GRCm39)	H527R	probably benign	Het
Cd226	A	G	18: 89,225,451 (GRCm39)	N116S	probably benign	Het
Cit	A	G	5: 116,125,105 (GRCm39)	K1612E	probably damaging	Het
Col3a1	T	A	1: 45,376,672 (GRCm39)		probably benign	Het
Copa	A	G	1: 171,947,468 (GRCm39)	N1095D	probably benign	Het
Cpne1	G	T	2: 155,915,891 (GRCm39)	A433E	probably damaging	Het
Cyfip1	C	T	7: 55,578,032 (GRCm39)	L1181F	probably damaging	Het
Dnajc6	T	A	4: 101,470,127 (GRCm39)	I220N	probably damaging	Het
Duxbl1	G	C	14: 25,988,172 (GRCm39)		probably benign	Het
Fam135b	C	T	15: 71,335,760 (GRCm39)	R478H	probably benign	Het
Fam91a1	T	A	15: 58,322,449 (GRCm39)	S734T	possibly damaging	Het
Fut10	T	G	8: 31,726,495 (GRCm39)	S417A	probably benign	Het
Gm9945	C	T	11: 53,371,163 (GRCm39)		probably benign	Het
Golga4	A	G	9: 118,385,680 (GRCm39)	E934G	probably damaging	Het
Gpat2	G	A	2: 127,270,211 (GRCm39)	V75M	probably damaging	Het
Hdac5	A	G	11: 102,087,962 (GRCm39)	V949A	probably damaging	Het
Hdgfl1	G	T	13: 26,953,732 (GRCm39)	L114I	probably benign	Het
Ifi27l2b	T	A	12: 103,422,083 (GRCm39)	M94L	unknown	Het
Irs2	C	A	8: 11,055,352 (GRCm39)	A1027S	probably benign	Het
Itga2	A	T	13: 115,017,578 (GRCm39)	C111S	probably damaging	Het
Khdrbs1	T	C	4: 129,614,540 (GRCm39)	T338A	probably benign	Het
Klk1	T	C	7: 43,870,161 (GRCm39)		probably null	Het
Kmt2b	T	C	7: 30,275,493 (GRCm39)	N1822S	probably benign	Het
Lrig3	T	C	10: 125,830,310 (GRCm39)	I136T	probably benign	Het
Lyar	T	A	5: 38,385,276 (GRCm39)	D105E	probably benign	Het
Mat1a	T	A	14: 40,844,469 (GRCm39)	D366E	probably benign	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Naip1	A	T	13: 100,559,727 (GRCm39)	D1092E	probably benign	Het
Neb	T	A	2: 52,139,523 (GRCm39)	K95*	probably null	Het
Nectin4	A	G	1: 171,207,776 (GRCm39)	D56G	probably benign	Het
Nup58	A	T	14: 60,470,109 (GRCm39)	F334Y	probably damaging	Het
Or14a256	A	T	7: 86,265,395 (GRCm39)	F153I	probably benign	Het
Or9i1	A	G	19: 13,839,673 (GRCm39)	N172S	probably damaging	Het
Pde8a	C	A	7: 80,967,170 (GRCm39)	T437K	probably benign	Het
Ppp1r3a	A	T	6: 14,719,377 (GRCm39)	N512K	possibly damaging	Het
Pramel12	A	G	4: 143,144,473 (GRCm39)	Q273R	possibly damaging	Het
Rad51ap2	A	G	12: 11,507,068 (GRCm39)	D330G	probably damaging	Het
Ren1	G	A	1: 133,287,862 (GRCm39)	A399T	probably damaging	Het
Rnft2	G	T	5: 118,332,670 (GRCm39)		probably benign	Het
Septin14	A	T	5: 129,776,099 (GRCm39)	S27T	probably benign	Het
Shld1	T	A	2: 132,592,447 (GRCm39)	S165T	probably damaging	Het
Shox2	T	C	3: 66,885,692 (GRCm39)	K128E	possibly damaging	Het
Skint1	T	C	4: 111,882,678 (GRCm39)	W241R	probably benign	Het
Slc24a4	T	A	12: 102,188,310 (GRCm39)	H134Q	probably benign	Het
Slc25a36	A	T	9: 96,961,124 (GRCm39)	L165Q	possibly damaging	Het
Slc35f1	A	G	10: 52,949,630 (GRCm39)	I240V	probably benign	Het
Slc66a1	A	G	4: 139,029,810 (GRCm39)	F74L	probably damaging	Het
Tab2	G	A	10: 7,783,245 (GRCm39)	P679L	probably damaging	Het
Tarbp2	A	G	15: 102,426,992 (GRCm39)	E3G	possibly damaging	Het
Tas2r130	A	T	6: 131,607,036 (GRCm39)	I253K	probably damaging	Het
Timm44	A	C	8: 4,316,588 (GRCm39)	C319G	probably null	Het
Tjap1	A	T	17: 46,571,021 (GRCm39)	N165K	probably damaging	Het
Tmem63b	A	G	17: 45,977,080 (GRCm39)	I429T	probably benign	Het
Trabd2b	A	T	4: 114,457,100 (GRCm39)	D339V	probably damaging	Het
Tst	T	C	15: 78,290,033 (GRCm39)	M1V	probably null	Het
Ube4a	A	T	9: 44,859,435 (GRCm39)	N335K	probably benign	Het
Vps54	C	T	11: 21,256,394 (GRCm39)	T633M	probably benign	Het
Zfhx4	C	T	3: 5,468,418 (GRCm39)	P2859S	probably benign	Het
Zfp953	A	G	13: 67,496,003 (GRCm39)	Y13H	probably damaging	Het

Other mutations in Cmtr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00391:Cmtr1	APN	17	29,893,236 (GRCm39)	missense	probably damaging	0.99
IGL00980:Cmtr1	APN	17	29,910,258 (GRCm39)	missense	probably benign	0.00
IGL00987:Cmtr1	APN	17	29,916,143 (GRCm39)	missense	probably benign	0.01
IGL01413:Cmtr1	APN	17	29,916,956 (GRCm39)	missense	probably benign	0.00
IGL01481:Cmtr1	APN	17	29,917,631 (GRCm39)	missense	probably benign	0.02
IGL02281:Cmtr1	APN	17	29,910,255 (GRCm39)	missense	probably benign	0.00
IGL03079:Cmtr1	APN	17	29,882,267 (GRCm39)	missense	possibly damaging	0.71
IGL03376:Cmtr1	APN	17	29,910,385 (GRCm39)	missense	probably benign	0.00
PIT4403001:Cmtr1	UTSW	17	29,917,047 (GRCm39)	critical splice donor site	probably null
R0256:Cmtr1	UTSW	17	29,916,098 (GRCm39)	missense	probably damaging	1.00
R0505:Cmtr1	UTSW	17	29,895,259 (GRCm39)	missense	probably benign	0.17
R1477:Cmtr1	UTSW	17	29,916,131 (GRCm39)	missense	possibly damaging	0.63
R1623:Cmtr1	UTSW	17	29,906,021 (GRCm39)	splice site	probably null
R1852:Cmtr1	UTSW	17	29,921,229 (GRCm39)	missense	probably benign	0.32
R1867:Cmtr1	UTSW	17	29,893,148 (GRCm39)	missense	probably benign	0.36
R1918:Cmtr1	UTSW	17	29,897,983 (GRCm39)	missense	possibly damaging	0.63
R2070:Cmtr1	UTSW	17	29,913,757 (GRCm39)	critical splice acceptor site	probably null
R2071:Cmtr1	UTSW	17	29,913,757 (GRCm39)	critical splice acceptor site	probably null
R2161:Cmtr1	UTSW	17	29,921,147 (GRCm39)	missense	probably benign	0.03
R2763:Cmtr1	UTSW	17	29,899,602 (GRCm39)	missense	possibly damaging	0.89
R4077:Cmtr1	UTSW	17	29,904,949 (GRCm39)	missense	probably damaging	1.00
R4271:Cmtr1	UTSW	17	29,916,956 (GRCm39)	missense	probably benign	0.00
R4363:Cmtr1	UTSW	17	29,893,206 (GRCm39)	missense	probably damaging	1.00
R4723:Cmtr1	UTSW	17	29,906,131 (GRCm39)	splice site	probably null
R4736:Cmtr1	UTSW	17	29,919,216 (GRCm39)	missense	possibly damaging	0.94
R5056:Cmtr1	UTSW	17	29,909,302 (GRCm39)	missense	possibly damaging	0.64
R5492:Cmtr1	UTSW	17	29,909,316 (GRCm39)	missense	probably damaging	1.00
R5704:Cmtr1	UTSW	17	29,882,217 (GRCm39)	missense	possibly damaging	0.95
R5990:Cmtr1	UTSW	17	29,921,135 (GRCm39)	missense	probably benign
R6050:Cmtr1	UTSW	17	29,901,108 (GRCm39)	missense	probably damaging	1.00
R6117:Cmtr1	UTSW	17	29,901,139 (GRCm39)	missense	probably benign	0.43
R6238:Cmtr1	UTSW	17	29,901,122 (GRCm39)	missense	probably damaging	1.00
R7199:Cmtr1	UTSW	17	29,895,174 (GRCm39)	missense	probably benign
R7229:Cmtr1	UTSW	17	29,914,398 (GRCm39)	critical splice acceptor site	probably null
R8337:Cmtr1	UTSW	17	29,893,151 (GRCm39)	missense	probably benign	0.25
R9538:Cmtr1	UTSW	17	29,882,282 (GRCm39)	critical splice donor site	probably null
R9607:Cmtr1	UTSW	17	29,893,196 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GCAGGGGTGCTTTTAATCAC -3'
(R):5'- CCAGGGGATTTGTGAACATACG -3'

Sequencing Primer
(F):5'- TTGTCAGGGCTACACAACTG -3'
(R):5'- GGGATTTGTGAACATACGATCAAAC -3'

Posted On

2014-12-04