Mutagenetix > Incidental Mutations

Incidental Mutation 'R5271:Gm27013'

400298

Institutional Source

Beutler Lab

Gene Symbol

Gm27013

Ensembl Gene

ENSMUSG00000098025

Gene Name

predicted gene, 27013

Synonyms

MMRRC Submission

042861-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.141) question?

Stock #

R5271 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

130519764-130546306 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 130676915 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 528 (Y528C)

Gene Model

predicted gene model for transcript(s):

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000182643
AA Change: Y528C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000138716
Gene: ENSMUSG00000098137
AA Change: Y528C

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

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.6%
20x: 93.6%

Validation Efficiency

97% (65/67)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003H04Rik	T	C	3: 124,579,847	K33R	possibly damaging	Het
4632415L05Rik	C	T	3: 19,895,147		noncoding transcript	Het
4930542C16Rik	A	C	14: 24,615,530		noncoding transcript	Het
Adprh	A	T	16: 38,446,054	L242*	probably null	Het
Anapc1	G	A	2: 128,685,985	Q18*	probably null	Het
Bfar	T	C	16: 13,692,397		probably benign	Het
Bmp1	T	C	14: 70,508,128	I206V	probably benign	Het
Cc2d1b	T	A	4: 108,623,629		probably benign	Het
Clock	A	G	5: 76,241,954	I349T	probably damaging	Het
Cox11	A	G	11: 90,643,732	Y60C	probably damaging	Het
Cyp1a1	G	A	9: 57,702,838	V512M	probably benign	Het
Dcdc2a	T	C	13: 25,187,688	F311S	probably benign	Het
Dnase1l3	T	C	14: 7,993,843	D48G	probably damaging	Het
Engase	G	T	11: 118,481,397	A172S	probably damaging	Het
F2	T	C	2: 91,635,121		probably benign	Het
Gcc2	T	C	10: 58,269,695	V215A	possibly damaging	Het
Gm11677	C	T	11: 111,724,711		noncoding transcript	Het
Gm14548	A	T	7: 3,897,567	Y61*	probably null	Het
Gm20388	A	G	8: 122,271,133		probably benign	Het
Gm20671	T	C	5: 32,819,959	K1817R	possibly damaging	Het
Gm20939	T	A	17: 94,877,155	Y410*	probably null	Het
Gm9992	T	C	17: 7,369,682	N149S	possibly damaging	Het
Il23r	T	C	6: 67,423,696	H550R	probably benign	Het
Iqgap1	A	T	7: 80,734,148	V1056E	probably damaging	Het
Lrit3	T	A	3: 129,788,301	Y679F	probably damaging	Het
Megf8	A	T	7: 25,341,706	E1120V	probably damaging	Het
Mta1	A	G	12: 113,131,957	E518G	probably damaging	Het
Myo9a	A	G	9: 59,907,382	I2200M	probably damaging	Het
Ncoa7	T	C	10: 30,722,729	H66R	probably benign	Het
Ncor1	A	G	11: 62,340,545	V812A	probably damaging	Het
Ndnf	T	C	6: 65,703,666	Y310H	possibly damaging	Het
Ndst1	G	A	18: 60,705,132	T347I	probably benign	Het
Olfr1229	A	T	2: 89,282,953	F60Y	probably benign	Het
Olfr512	T	C	7: 108,714,217	L276S	probably damaging	Het
Pcdhb10	C	A	18: 37,413,169	Q433K	probably benign	Het
Pcdhb18	G	A	18: 37,491,596	V660M	possibly damaging	Het
Pds5b	T	A	5: 150,723,353	N202K	possibly damaging	Het
Polk	T	C	13: 96,483,539	S718G	probably benign	Het
Ptpdc1	T	C	13: 48,590,698	D149G	probably damaging	Het
Rb1cc1	T	A	1: 6,249,193	C35*	probably null	Het
Samd9l	C	T	6: 3,376,156	M368I	probably benign	Het
Shroom3	T	C	5: 92,962,248	M1739T	probably damaging	Het
Slc18a3	A	G	14: 32,463,748	L226P	probably damaging	Het
St7l	A	T	3: 104,868,060	Y84F	probably damaging	Het
Svil	A	T	18: 5,062,329	N392I	probably benign	Het
Syngr1	T	A	15: 80,098,039	M9K	probably benign	Het
Taar2	T	C	10: 23,941,032	S157P	probably damaging	Het
Tagap1	G	T	17: 6,956,096	Y400*	probably null	Het
Tbc1d8	T	A	1: 39,373,767	E976V	probably damaging	Het
Tmem163	G	A	1: 127,491,552		probably benign	Het
Tnfaip2	A	G	12: 111,448,460		probably benign	Het
Ttn	C	T	2: 76,706,517	S34988N	possibly damaging	Het
Tubg1	T	G	11: 101,120,238	N15K	probably damaging	Het
Vmn2r-ps159	G	T	4: 156,334,397		noncoding transcript	Het
Zap70	T	A	1: 36,781,365	V547D	probably damaging	Het
Zfp146	G	T	7: 30,162,475	N47K	probably benign	Het
Znrf1	T	G	8: 111,609,344	M159R	probably benign	Het

Other mutations in Gm27013

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R4175:Gm27013	UTSW	6	130677147	missense	probably benign	0.00
R4229:Gm27013	UTSW	6	130677345	missense	possibly damaging	0.89
R4408:Gm27013	UTSW	6	130677765	missense	possibly damaging	0.90
R4585:Gm27013	UTSW	6	130521040	unclassified	noncoding transcript
R4586:Gm27013	UTSW	6	130521040	unclassified	noncoding transcript
R4823:Gm27013	UTSW	6	130522223	exon	noncoding transcript
R4840:Gm27013	UTSW	6	130678116	missense	probably benign	0.00
R4842:Gm27013	UTSW	6	130520737	unclassified	noncoding transcript
R4943:Gm27013	UTSW	6	130676200	nonsense	probably null
R4998:Gm27013	UTSW	6	130676538	missense	probably damaging	0.98
R5087:Gm27013	UTSW	6	130677670	missense	probably damaging	0.98
R5507:Gm27013	UTSW	6	130675979	missense	probably damaging	1.00
R5767:Gm27013	UTSW	6	130675958	missense	possibly damaging	0.78

Predicted Primers

PCR Primer
(F):5'- GGATTCTGTAGTGAACTTGAAGC -3'
(R):5'- AGCTTCTTCCCAAGAGACAC -3'

Sequencing Primer
(F):5'- AGTGAACTTGAAGCTGTGAGTTC -3'
(R):5'- GCTTCTTCCCAAGAGACACATTAC -3'

Posted On

2016-07-06