Mutagenetix > Incidental Mutation

Incidental Mutation 'R4175:Gm27013'

318261

Institutional Source

Beutler Lab

Gene Symbol

Gm27013

Ensembl Gene

ENSMUSG00000098025

Gene Name

predicted gene, 27013

Synonyms

MMRRC Submission

041013-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.130) question?

Stock #

R4175 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

130498277-130499300 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 130654110 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 451 (T451S)

Gene Model

predicted gene model for transcript(s):

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000182643
AA Change: T451S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000138716
Gene: ENSMUSG00000098137
AA Change: T451S

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

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

96% (46/48)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd63	T	C	2: 118,533,100 (GRCm39)	M274V	probably benign	Het
Ano6	A	T	15: 95,860,050 (GRCm39)	D724V	probably damaging	Het
Apobec3	A	G	15: 79,779,653 (GRCm39)	N43S	probably damaging	Het
Arfgef1	T	C	1: 10,229,861 (GRCm39)	H1280R	probably damaging	Het
Cbfa2t3	C	T	8: 123,370,057 (GRCm39)	V139M	probably damaging	Het
Cd200r3	T	A	16: 44,774,552 (GRCm39)	D188E	probably benign	Het
Clmp	A	T	9: 40,682,432 (GRCm39)	N72I	probably benign	Het
Col11a1	A	C	3: 114,001,872 (GRCm39)	D432A	possibly damaging	Het
Creb3l1	A	G	2: 91,813,520 (GRCm39)	F506L	probably benign	Het
Ctbp1	A	G	5: 33,424,250 (GRCm39)	S47P	probably damaging	Het
Dus1l	G	A	11: 120,686,506 (GRCm39)	R12C	possibly damaging	Het
Elp5	T	C	11: 69,861,388 (GRCm39)	Q197R	probably null	Het
Epb41l4b	A	G	4: 57,076,556 (GRCm39)	V326A	probably damaging	Het
Fhdc1	T	C	3: 84,364,294 (GRCm39)		probably benign	Het
Ifi208	A	T	1: 173,510,267 (GRCm39)	M141L	probably benign	Het
Inpp5e	A	G	2: 26,290,937 (GRCm39)	S377P	probably damaging	Het
Kat2a	A	G	11: 100,596,092 (GRCm39)	L822P	probably damaging	Het
Kcnip2	G	C	19: 45,800,654 (GRCm39)	T24S	probably benign	Het
Med17	A	G	9: 15,178,765 (GRCm39)	Y469H	possibly damaging	Het
Mindy3	C	T	2: 12,410,676 (GRCm39)	C77Y	probably damaging	Het
Mmp1a	A	G	9: 7,467,236 (GRCm39)	T271A	probably benign	Het
Ncor2	A	T	5: 125,128,020 (GRCm39)	S118T	probably damaging	Het
Or5ak24	A	T	2: 85,260,962 (GRCm39)	D70E	probably damaging	Het
Osmr	A	T	15: 6,882,027 (GRCm39)	V39D	probably damaging	Het
Pcdh15	G	A	10: 74,467,829 (GRCm39)		probably benign	Het
Pclo	A	G	5: 14,763,889 (GRCm39)	K836E	probably damaging	Het
Phaf1	T	C	8: 105,967,763 (GRCm39)	L218P	probably benign	Het
Pik3r1	A	T	13: 101,838,240 (GRCm39)	L272H	probably damaging	Het
Pik3r1	G	A	13: 101,838,241 (GRCm39)	L272F	probably benign	Het
Prrc2b	G	GCT	2: 32,108,820 (GRCm39)		probably benign	Het
Ptprq	T	G	10: 107,547,778 (GRCm39)	I207L	probably benign	Het
Rasa2	G	T	9: 96,442,830 (GRCm39)	T531K	probably benign	Het
Six4	G	A	12: 73,155,605 (GRCm39)	T454I	probably damaging	Het
Slc26a6	G	A	9: 108,731,416 (GRCm39)		probably benign	Het
Slc7a13	G	A	4: 19,819,492 (GRCm39)	G231R	probably null	Het
Slco3a1	T	A	7: 73,968,302 (GRCm39)	N473Y	probably damaging	Het
Tapt1	G	A	5: 44,334,447 (GRCm39)	L515F	probably benign	Het
Tmem145	T	C	7: 25,008,218 (GRCm39)	I253T	probably benign	Het
Trip11	G	A	12: 101,861,957 (GRCm39)	Q203*	probably null	Het
Unc13a	A	G	8: 72,120,368 (GRCm39)		probably benign	Het
Usp24	T	C	4: 106,173,970 (GRCm39)	V101A	probably benign	Het
Zfp36l3	T	C	X: 52,777,840 (GRCm39)	T125A	possibly damaging	Het

Other mutations in Gm27013

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R4229:Gm27013	UTSW	6	130,654,308 (GRCm39)	missense	possibly damaging	0.89
R4408:Gm27013	UTSW	6	130,654,728 (GRCm39)	missense	possibly damaging	0.90
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'- GCGTTCTGTGTAAAAGATTTCCCAC -3'
(R):5'- TCATAGCTGGTATACTGGACCATGG -3'

Sequencing Primer
(F):5'- CCCACATTTGCTACATTTGTAAGG -3'
(R):5'- CTGGTATACTGGACCATGGATAAATG -3'

Posted On

2015-06-10