Mutagenetix > Incidental Mutation

Incidental Mutation 'R4408:Gm27013'

327759

Institutional Source

Beutler Lab

Gene Symbol

Gm27013

Ensembl Gene

ENSMUSG00000098025

Gene Name

predicted gene, 27013

Synonyms

MMRRC Submission

041690-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.138) question?

Stock #

R4408 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

130498277-130499300 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 130654728 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 245 (S245T)

Gene Model

predicted gene model for transcript(s):

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000182643
AA Change: S245T

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000138716
Gene: ENSMUSG00000098137
AA Change: S245T

Domain	Start	End	E-Value	Type
KRAB	8	68	3.39e-35	SMART
ZnF_C2H2	453	503	1.83e2	SMART
ZnF_C2H2	509	531	6.99e-5	SMART
ZnF_C2H2	537	559	1.4e-4	SMART
ZnF_C2H2	565	587	1.6e-4	SMART
ZnF_C2H2	593	615	1.08e-5	SMART
ZnF_C2H2	621	643	1.2e-3	SMART
ZnF_C2H2	649	671	1.5e-4	SMART
ZnF_C2H2	677	699	1.58e-3	SMART
ZnF_C2H2	705	727	2.61e-4	SMART
ZnF_C2H2	733	755	4.79e-3	SMART
ZnF_C2H2	761	783	4.61e-5	SMART
ZnF_C2H2	789	811	1.13e-4	SMART
ZnF_C2H2	817	839	3.16e-3	SMART
ZnF_C2H2	845	867	1.28e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205067

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.6%

Validation Efficiency

97% (35/36)

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cacna1h	A	G	17: 25,599,601 (GRCm39)	V1588A	probably damaging	Het
Card6	T	A	15: 5,130,536 (GRCm39)	M287L	probably damaging	Het
Fam227b	T	A	2: 125,958,045 (GRCm39)	Y240F	possibly damaging	Het
Fbln1	T	A	15: 85,115,757 (GRCm39)		probably null	Het
Fndc5	A	G	4: 129,036,322 (GRCm39)		probably null	Het
Gm10799	C	A	2: 103,898,409 (GRCm39)	A99S	possibly damaging	Het
Gm5592	A	G	7: 40,935,872 (GRCm39)	T125A	probably benign	Het
Gml2	T	C	15: 74,696,188 (GRCm39)		probably benign	Het
Gpbp1	A	T	13: 111,585,498 (GRCm39)	N149K	possibly damaging	Het
Gprc6a	T	C	10: 51,504,639 (GRCm39)	I68M	probably benign	Het
Hnrnpu	T	C	1: 178,158,368 (GRCm39)		probably benign	Het
Irf5	A	G	6: 29,534,000 (GRCm39)		probably null	Het
Lrp2	T	A	2: 69,297,513 (GRCm39)	K3149N	probably benign	Het
Lrrn3	A	G	12: 41,504,041 (GRCm39)	V92A	probably benign	Het
Map3k12	T	C	15: 102,413,837 (GRCm39)	T45A	probably damaging	Het
Myof	A	G	19: 37,911,426 (GRCm39)	S1502P	probably damaging	Het
Or4k77	T	A	2: 111,199,625 (GRCm39)	I216K	possibly damaging	Het
Or9s18	A	G	13: 65,300,514 (GRCm39)	T159A	probably benign	Het
Osr2	T	C	15: 35,300,617 (GRCm39)	Y58H	possibly damaging	Het
Pop5	C	T	5: 115,378,836 (GRCm39)		probably benign	Het
Ror2	A	G	13: 53,272,997 (GRCm39)	C211R	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Sgsm2	C	A	11: 74,742,592 (GRCm39)	R957L	probably damaging	Het
Slc16a11	A	G	11: 70,106,560 (GRCm39)		probably null	Het
Spag17	T	A	3: 100,010,694 (GRCm39)	Y2063N	probably benign	Het
Usp25	A	C	16: 76,912,341 (GRCm39)	K1020T	probably damaging	Het
Vmn1r23	T	C	6: 57,903,353 (GRCm39)	I142V	probably benign	Het
Vmn1r235	A	G	17: 21,481,854 (GRCm39)	K60E	probably damaging	Het
Vmn2r33	A	C	7: 7,554,229 (GRCm39)	F775V	probably damaging	Het
Vps13b	C	T	15: 35,709,440 (GRCm39)	P1796S	probably damaging	Het
Vwa3a	G	A	7: 120,378,149 (GRCm39)	V480I	probably benign	Het

Other mutations in Gm27013

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R4175:Gm27013	UTSW	6	130,654,110 (GRCm39)	missense	probably benign	0.00
R4229:Gm27013	UTSW	6	130,654,308 (GRCm39)	missense	possibly damaging	0.89
R4585:Gm27013	UTSW	6	130,498,003 (GRCm39)	unclassified	noncoding transcript
R4586:Gm27013	UTSW	6	130,498,003 (GRCm39)	unclassified	noncoding transcript
R4823:Gm27013	UTSW	6	130,499,186 (GRCm39)	exon	noncoding transcript
R4840:Gm27013	UTSW	6	130,655,079 (GRCm39)	missense	probably benign	0.00
R4842:Gm27013	UTSW	6	130,497,700 (GRCm39)	unclassified	noncoding transcript
R4943:Gm27013	UTSW	6	130,653,163 (GRCm39)	nonsense	probably null
R4998:Gm27013	UTSW	6	130,653,501 (GRCm39)	missense	probably damaging	0.98
R5087:Gm27013	UTSW	6	130,654,633 (GRCm39)	missense	probably damaging	0.98
R5271:Gm27013	UTSW	6	130,653,878 (GRCm39)	missense	probably damaging	1.00
R5507:Gm27013	UTSW	6	130,652,942 (GRCm39)	missense	probably damaging	1.00
R5767:Gm27013	UTSW	6	130,652,921 (GRCm39)	missense	possibly damaging	0.78

Predicted Primers

PCR Primer
(F):5'- CTTATCTGATTTTCCCTTGGATGAG -3'
(R):5'- TCACAACTGGAGGATTTTCTAGG -3'

Sequencing Primer
(F):5'- TCCCTTGGATGAGTTTTACAAATAG -3'
(R):5'- TTGAAACACAAAACTATTTTACAGGG -3'

Posted On

2015-07-07