Mutagenetix > Incidental Mutation

Incidental Mutation 'R5989:Ramacl'

481894

Institutional Source

Beutler Lab

Gene Symbol

Ramacl

Ensembl Gene

ENSMUSG00000074826

Gene Name

RNA guanine-7 methyltransferase activating subunit like

Synonyms

Gm10767

MMRRC Submission

044169-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.167) question?

Stock #

R5989 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

67053479-67057230 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 67056050 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 14 (M14I)

Ref Sequence

ENSEMBL: ENSMUSP00000133647 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021991] [ENSMUST00000021993] [ENSMUST00000099412] [ENSMUST00000168767] [ENSMUST00000173158]

AlphaFold

Q3TQP0

Predicted Effect

probably benign
Transcript: ENSMUST00000021991

SMART Domains

Protein: ENSMUSP00000021991
Gene: ENSMUSG00000021519

Domain	Start	End	E-Value	Type
low complexity region	97	117	N/A	INTRINSIC
Mterf	161	196	1.63e3	SMART
Mterf	201	231	7.37e-1	SMART
Mterf	236	267	4.68e-3	SMART
Mterf	272	303	2.12e-1	SMART
Mterf	308	339	4.11e1	SMART
Mterf	340	370	9.22e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000021993

SMART Domains

Protein: ENSMUSP00000021993
Gene: ENSMUSG00000021520

Domain	Start	End	E-Value	Type
Pfam:UCR_14kD	8	106	1.2e-44	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000099412
AA Change: M14I

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

SMART Domains

Protein: ENSMUSP00000133648
Gene: ENSMUSG00000074826
AA Change: M14I

Domain	Start	End	E-Value	Type
Pfam:RAM	9	89	1.5e-31	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000168767
AA Change: M14I

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

SMART Domains

Protein: ENSMUSP00000133647
Gene: ENSMUSG00000074826
AA Change: M14I

Domain	Start	End	E-Value	Type
Pfam:RAM	10	87	5.5e-24	PFAM
low complexity region	89	103	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000173158

SMART Domains

Protein: ENSMUSP00000134032
Gene: ENSMUSG00000021519

Domain	Start	End	E-Value	Type
low complexity region	97	108	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000173891

SMART Domains

Protein: ENSMUSP00000133330
Gene: ENSMUSG00000021519

Domain	Start	End	E-Value	Type
Pfam:mTERF	2	67	2.2e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174134

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223875

Coding Region Coverage

1x: 99.8%
3x: 99.4%
10x: 97.0%
20x: 90.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cartpt	T	A	13: 100,035,492 (GRCm39)	I109F	probably damaging	Het
Csmd3	G	A	15: 47,454,160 (GRCm39)	P3562L	possibly damaging	Het
Cyp2c40	T	C	19: 39,796,024 (GRCm39)	D118G	probably benign	Het
Dmrt1	T	A	19: 25,523,245 (GRCm39)	S199T	possibly damaging	Het
Drgx	A	G	14: 32,330,145 (GRCm39)	N116S	probably benign	Het
Ebf1	G	T	11: 44,886,998 (GRCm39)	C565F	probably damaging	Het
Ggnbp1	A	G	17: 27,248,721 (GRCm39)	R97G	probably benign	Het
Gm10271	A	T	10: 116,808,497 (GRCm39)	F6L	probably damaging	Het
Gm42417	A	G	1: 36,571,273 (GRCm39)	F183L	probably damaging	Het
Ipcef1	A	T	10: 6,929,532 (GRCm39)	Y69*	probably null	Het
Lcp1	A	T	14: 75,436,827 (GRCm39)	M58L	probably benign	Het
Mtif2	A	G	11: 29,480,098 (GRCm39)	T55A	probably damaging	Het
Nefm	A	G	14: 68,361,778 (GRCm39)	V162A	probably benign	Het
Nmral1	G	A	16: 4,536,902 (GRCm39)		probably benign	Het
Or5h23	A	T	16: 58,906,697 (GRCm39)	W50R	probably benign	Het
Panx2	T	C	15: 88,944,455 (GRCm39)	L60P	probably damaging	Het
Prkag3	T	C	1: 74,780,433 (GRCm39)	N411D	probably benign	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rttn	G	A	18: 88,991,750 (GRCm39)	D110N	probably damaging	Het
Sfta2	G	T	17: 35,960,672 (GRCm39)		probably benign	Het
Slc17a3	A	G	13: 24,026,411 (GRCm39)		probably benign	Het
Spem1	G	A	11: 69,711,951 (GRCm39)	P238S	possibly damaging	Het
Tmem200c	G	T	17: 69,144,431 (GRCm39)		probably benign	Het
Trpm2	A	G	10: 77,795,734 (GRCm39)	F131S	probably damaging	Het
Vps51	A	G	19: 6,126,402 (GRCm39)	S117P	probably damaging	Het
Zbtb21	G	A	16: 97,752,699 (GRCm39)	P556L	probably damaging	Het

Other mutations in Ramacl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02957:Ramacl	APN	13	67,056,277 (GRCm39)	intron	probably benign
R1950:Ramacl	UTSW	13	67,055,269 (GRCm39)	intron	probably benign
R2000:Ramacl	UTSW	13	67,056,214 (GRCm39)	missense	possibly damaging	0.94
R7823:Ramacl	UTSW	13	67,055,351 (GRCm39)	intron	probably benign
R9169:Ramacl	UTSW	13	67,056,063 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GACATATACATGTGATGCATTGGC -3'
(R):5'- CCACTGATTTGACCGGTTGTC -3'

Sequencing Primer
(F):5'- GCATTGGCACACCCCTC -3'
(R):5'- CCGGTTGTCAGTTGGCCATC -3'

Posted On

2017-06-26