Mutagenetix > Incidental Mutation

Incidental Mutation 'R4456:Rasl12'

329195

Institutional Source

Beutler Lab

Gene Symbol

Rasl12

Ensembl Gene

ENSMUSG00000041696

Gene Name

RAS-like, family 12

Synonyms

4631404I11Rik

MMRRC Submission

041716-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R4456 (G1)

Quality Score

129

Status

Validated

Chromosome

Chromosomal Location

65305788-65322135 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 65305866 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 7 (K7R)

Ref Sequence

ENSEMBL: ENSMUSP00000131837 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085453] [ENSMUST00000165682] [ENSMUST00000217172]

AlphaFold

Q08AT1

Predicted Effect

probably null
Transcript: ENSMUST00000085453
AA Change: K7R

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000082580
Gene: ENSMUSG00000041696
AA Change: K7R

Domain	Start	End	E-Value	Type
Pfam:Arf	15	154	4e-7	PFAM
Pfam:Roc	22	138	1.5e-8	PFAM
Pfam:Ras	22	185	9.7e-33	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000165682
AA Change: K7R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000131837
Gene: ENSMUSG00000041696
AA Change: K7R

Domain	Start	End	E-Value	Type
Pfam:Arf	15	155	3.9e-8	PFAM
Pfam:Miro	22	137	9.2e-14	PFAM
Pfam:Ras	22	159	1.7e-23	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215605

Predicted Effect

probably damaging
Transcript: ENSMUST00000217172
AA Change: K7R

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

Meta Mutation Damage Score

0.0950

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

93% (42/45)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	G	11: 109,833,071 (GRCm39)	F1210L	probably benign	Het
Amfr	C	T	8: 94,711,568 (GRCm39)	A323T	possibly damaging	Het
Apob	T	A	12: 8,065,445 (GRCm39)	I4105N	probably damaging	Het
Bahd1	C	T	2: 118,746,887 (GRCm39)	P169S	probably damaging	Het
Cdc42ep1	A	G	15: 78,734,091 (GRCm39)	E397G	possibly damaging	Het
Cdkn2d	C	G	9: 21,202,185 (GRCm39)	V21L	probably benign	Het
Dnmt1	T	C	9: 20,821,138 (GRCm39)	T1250A	probably damaging	Het
Dst	A	T	1: 34,229,800 (GRCm39)	K2642N	probably benign	Het
Emcn	A	T	3: 137,085,608 (GRCm39)	K69*	probably null	Het
Eya1	C	T	1: 14,253,420 (GRCm39)	V519M	probably damaging	Het
Fbxo38	G	T	18: 62,659,320 (GRCm39)	R326S	probably damaging	Het
Fcer1g	A	G	1: 171,061,808 (GRCm39)	S3P	probably benign	Het
Glp1r	G	T	17: 31,137,949 (GRCm39)	E127*	probably null	Het
Gnmt	G	T	17: 47,039,910 (GRCm39)	H56Q	probably benign	Het
Hectd4	C	T	5: 121,446,334 (GRCm39)	T1513I	possibly damaging	Het
Hsd3b1	G	A	3: 98,763,459 (GRCm39)	T48I	probably benign	Het
Kmt2c	A	T	5: 25,515,210 (GRCm39)	C2878S	probably benign	Het
Loxhd1	A	G	18: 77,486,785 (GRCm39)	Y1290C	probably damaging	Het
Mkln1	A	G	6: 31,403,707 (GRCm39)	Y76C	probably damaging	Het
Mri1	C	A	8: 84,983,035 (GRCm39)	A129S	probably benign	Het
Mroh2b	A	T	15: 4,977,407 (GRCm39)	H1253L	probably benign	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Mthfsd	C	T	8: 121,832,504 (GRCm39)	V63I	possibly damaging	Het
Naip2	T	A	13: 100,291,419 (GRCm39)	H1173L	probably benign	Het
Nbea	A	G	3: 55,551,205 (GRCm39)	V2653A	probably benign	Het
Nckap5	A	T	1: 125,842,472 (GRCm39)		probably benign	Het
Notch4	G	A	17: 34,802,807 (GRCm39)	V1378M	probably damaging	Het
Or51a42	A	G	7: 103,708,507 (GRCm39)	S101P	possibly damaging	Het
Rab36	G	A	10: 74,880,328 (GRCm39)	V63I	probably damaging	Het
Rnf4	A	G	5: 34,508,705 (GRCm39)	Y189C	probably benign	Het
Shroom3	A	G	5: 93,088,858 (GRCm39)	H536R	probably benign	Het
Slc2a4	G	A	11: 69,834,148 (GRCm39)		probably benign	Het
Tbc1d5	A	C	17: 51,089,369 (GRCm39)	S604A	probably damaging	Het
Tcp11l1	A	T	2: 104,514,567 (GRCm39)	V400E	probably damaging	Het
Tom1l2	G	T	11: 60,243,641 (GRCm39)		probably benign	Het
Ttc28	AC	A	5: 111,371,924 (GRCm39)		probably null	Het
Txndc15	A	G	13: 55,865,977 (GRCm39)	D147G	possibly damaging	Het

Other mutations in Rasl12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01942:Rasl12	APN	9	65,315,644 (GRCm39)	missense	probably damaging	1.00
IGL02268:Rasl12	APN	9	65,305,946 (GRCm39)	missense	probably damaging	1.00
IGL02293:Rasl12	APN	9	65,315,593 (GRCm39)	missense	probably benign	0.02
R0755:Rasl12	UTSW	9	65,318,241 (GRCm39)	missense	probably benign
R1334:Rasl12	UTSW	9	65,318,151 (GRCm39)	missense	probably damaging	1.00
R2063:Rasl12	UTSW	9	65,318,106 (GRCm39)	missense	probably damaging	1.00
R2872:Rasl12	UTSW	9	65,315,605 (GRCm39)	missense	probably benign	0.10
R2872:Rasl12	UTSW	9	65,315,605 (GRCm39)	missense	probably benign	0.10
R2874:Rasl12	UTSW	9	65,315,605 (GRCm39)	missense	probably benign	0.10
R4785:Rasl12	UTSW	9	65,320,730 (GRCm39)	missense	probably damaging	0.99
R5391:Rasl12	UTSW	9	65,305,949 (GRCm39)	missense	probably damaging	0.96
R7008:Rasl12	UTSW	9	65,318,151 (GRCm39)	missense	probably damaging	1.00
R8964:Rasl12	UTSW	9	65,314,913 (GRCm39)	missense	probably damaging	1.00
X0058:Rasl12	UTSW	9	65,315,611 (GRCm39)	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- AGCTGGCTGTGGTCTAAAGC -3'
(R):5'- TGATAGCCTGCAACAGAGAAAC -3'

Sequencing Primer
(F):5'- CTGTGGTCTAAAGCAAAAGTGACAC -3'
(R):5'- GCAAAAAGCAGTCTTAGGGAC -3'

Posted On

2015-07-21