Mutagenetix > Incidental Mutation

Incidental Mutation 'R2566:Gm15737'

254465

Institutional Source

Beutler Lab

Gene Symbol

Gm15737

Ensembl Gene

ENSMUSG00000079462

Gene Name

predicted gene 15737

Synonyms

MMRRC Submission

040425-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R2566 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

92846338-92861392 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 92856701 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 43 (C43*)

Ref Sequence

ENSEMBL: ENSMUSP00000109061 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113434] [ENSMUST00000113438] [ENSMUST00000167391]

AlphaFold

D3YZR0

Predicted Effect

probably null
Transcript: ENSMUST00000113434
AA Change: C43*

Predicted Effect

probably benign
Transcript: ENSMUST00000113438

SMART Domains

Protein: ENSMUSP00000109065
Gene: ENSMUSG00000030022

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:Pep_M12B_propep	49	207	1.8e-37	PFAM
low complexity region	234	247	N/A	INTRINSIC
Pfam:Reprolysin_5	291	476	7.6e-17	PFAM
Pfam:Reprolysin_4	291	495	2e-11	PFAM
Pfam:Reprolysin	293	499	7.4e-29	PFAM
Pfam:Reprolysin_2	310	489	1e-13	PFAM
Pfam:Reprolysin_3	314	445	1.7e-14	PFAM
TSP1	591	643	2.15e-9	SMART
Pfam:ADAM_spacer1	753	871	7.3e-35	PFAM
TSP1	881	936	1.14e0	SMART
Blast:TSP1	938	993	2e-28	BLAST
TSP1	1000	1054	3.78e-5	SMART
TSP1	1055	1109	5.64e-4	SMART
TSP1	1110	1166	1.25e-5	SMART
TSP1	1186	1240	1.45e-6	SMART
TSP1	1242	1296	4.41e-6	SMART
TSP1	1328	1380	7.06e-5	SMART
TSP1	1381	1436	4.24e-8	SMART
TSP1	1440	1495	8.23e-6	SMART
TSP1	1496	1551	1.23e-4	SMART
TSP1	1552	1609	2e-4	SMART
TSP1	1611	1672	1.25e-5	SMART
TSP1	1676	1730	3.47e-4	SMART
Pfam:GON	1732	1930	1.6e-85	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000167391

SMART Domains

Protein: ENSMUSP00000126498
Gene: ENSMUSG00000030022

Domain	Start	End	E-Value	Type
TSP1	10	62	2.15e-9	SMART
Pfam:ADAM_spacer1	172	290	6.1e-35	PFAM
TSP1	300	355	1.14e0	SMART
Blast:TSP1	357	412	3e-28	BLAST
TSP1	419	473	3.78e-5	SMART
TSP1	474	528	5.64e-4	SMART
TSP1	529	585	1.25e-5	SMART
TSP1	605	659	1.45e-6	SMART
TSP1	661	715	4.41e-6	SMART
TSP1	747	799	7.06e-5	SMART
TSP1	800	855	4.24e-8	SMART
TSP1	859	914	8.23e-6	SMART
TSP1	915	970	1.23e-4	SMART
TSP1	971	1028	2e-4	SMART
TSP1	1030	1091	1.25e-5	SMART
TSP1	1095	1149	3.47e-4	SMART
Pfam:GON	1150	1350	2.1e-86	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	C	9: 124,055,701 (GRCm39)	K408E	probably damaging	Het
2010315B03Rik	T	A	9: 124,055,783 (GRCm39)	K380N	probably damaging	Het
9230104M06Rik	C	T	12: 112,964,359 (GRCm39)		probably benign	Het
Ahi1	T	A	10: 20,846,810 (GRCm39)	C413*	probably null	Het
Alms1	T	A	6: 85,599,464 (GRCm39)	M1430K	possibly damaging	Het
Ankrd52	G	T	10: 128,225,220 (GRCm39)	A894S	probably benign	Het
Arhgap33	C	A	7: 30,226,654 (GRCm39)	V494L	probably damaging	Het
Atic	G	T	1: 71,608,130 (GRCm39)	V275F	probably damaging	Het
Atoh1	T	A	6: 64,706,668 (GRCm39)	V121E	probably damaging	Het
Atp5pd	T	A	11: 115,306,864 (GRCm39)		probably null	Het
Baiap2l2	A	T	15: 79,146,174 (GRCm39)		probably null	Het
Brca2	A	T	5: 150,465,227 (GRCm39)	T1664S	probably benign	Het
Cdh15	G	A	8: 123,588,763 (GRCm39)	R279Q	probably damaging	Het
Celf3	ACAGCAGCAGCAGCAGCAGCAGCA	ACAGCAGCAGCAGCAGCAGCA	3: 94,395,537 (GRCm39)		probably benign	Het
Cep350	A	T	1: 155,835,464 (GRCm39)		probably null	Het
Ces2g	T	C	8: 105,692,621 (GRCm39)		probably null	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,604,632 (GRCm39)		probably null	Het
Cyp2d34	A	G	15: 82,500,368 (GRCm39)	F457S	probably damaging	Het
Disp3	T	A	4: 148,325,880 (GRCm39)	T1293S	probably damaging	Het
Dock10	T	A	1: 80,517,970 (GRCm39)	I1348F	possibly damaging	Het
Dsp	A	T	13: 38,380,380 (GRCm39)	H1776L	probably damaging	Het
Efhd1	A	T	1: 87,237,477 (GRCm39)	Q228L	possibly damaging	Het
Entpd2	T	A	2: 25,289,295 (GRCm39)	I259N	probably benign	Het
Fam149b	A	T	14: 20,425,578 (GRCm39)	M138L	probably damaging	Het
Fastkd5	T	C	2: 130,458,285 (GRCm39)	K102E	probably benign	Het
Fzd7	C	A	1: 59,523,695 (GRCm39)	T526K	possibly damaging	Het
G6pd2	T	A	5: 61,966,330 (GRCm39)	I35N	probably damaging	Het
Gars1	T	A	6: 55,042,548 (GRCm39)	M427K	probably damaging	Het
Gimap4	C	T	6: 48,667,799 (GRCm39)	R57C	probably damaging	Het
Gm11232	C	A	4: 71,676,022 (GRCm39)	W41L	probably benign	Het
Gpr180	T	C	14: 118,377,185 (GRCm39)	V62A	probably benign	Het
H2-M11	C	T	17: 36,859,042 (GRCm39)	T194I	possibly damaging	Het
Jakmip3	A	T	7: 138,591,197 (GRCm39)	E27V	possibly damaging	Het
Kcnq3	T	C	15: 65,903,276 (GRCm39)	T145A	probably damaging	Het
Krt8	A	G	15: 101,906,459 (GRCm39)	M350T	probably benign	Het
Krtap4-9	T	A	11: 99,676,492 (GRCm39)		probably benign	Het
Lbr	G	T	1: 181,663,692 (GRCm39)	D109E	probably damaging	Het
Ldc1	A	T	4: 130,103,681 (GRCm39)	L420Q	probably benign	Het
Med23	A	G	10: 24,764,473 (GRCm39)	H42R	probably damaging	Het
Mgat5	A	T	1: 127,234,741 (GRCm39)	M77L	probably benign	Het
Mlf1	A	T	3: 67,291,919 (GRCm39)	N28I	possibly damaging	Het
Mroh3	A	C	1: 136,125,864 (GRCm39)	L343R	probably damaging	Het
Mrpl37	T	A	4: 106,921,690 (GRCm39)	I180F	possibly damaging	Het
Mrps27	T	A	13: 99,536,836 (GRCm39)	C116*	probably null	Het
Muc6	A	G	7: 141,226,651 (GRCm39)	S1354P	possibly damaging	Het
Myh7	A	T	14: 55,220,699 (GRCm39)	D1033E	probably damaging	Het
Myo16	A	T	8: 10,644,820 (GRCm39)	E1717D	probably benign	Het
Myo1g	T	A	11: 6,462,539 (GRCm39)		probably null	Het
Or51ag1	A	G	7: 103,155,367 (GRCm39)	M262T	probably benign	Het
Or6c217	A	C	10: 129,737,964 (GRCm39)	L205R	probably damaging	Het
Pan2	T	C	10: 128,149,766 (GRCm39)	L576P	probably damaging	Het
Parp8	A	G	13: 117,032,223 (GRCm39)	S278P	possibly damaging	Het
Pdk2	A	G	11: 94,918,028 (GRCm39)		probably null	Het
Phf1	T	C	17: 27,156,062 (GRCm39)	S450P	probably damaging	Het
Pkd1l2	T	C	8: 117,746,233 (GRCm39)	Y1919C	probably damaging	Het
Postn	T	A	3: 54,284,374 (GRCm39)	S614T	probably damaging	Het
Psmg1	A	T	16: 95,783,395 (GRCm39)	Y213*	probably null	Het
Rab11b	T	A	17: 33,966,692 (GRCm39)	T203S	probably benign	Het
Rad54l2	T	A	9: 106,580,825 (GRCm39)	T899S	possibly damaging	Het
Ramp2	TTGCTGCTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGCTG	11: 101,137,371 (GRCm39)		probably benign	Het
Rapgef6	A	G	11: 54,578,537 (GRCm39)	T1028A	possibly damaging	Het
Rbm6	A	G	9: 107,669,197 (GRCm39)	S58P	possibly damaging	Het
Rreb1	G	T	13: 38,113,768 (GRCm39)	A376S	possibly damaging	Het
Rsbn1l	T	A	5: 21,124,767 (GRCm39)	N345I	probably benign	Het
Sf3b2	A	T	19: 5,325,118 (GRCm39)	S785T	possibly damaging	Het
Sh2b1	C	T	7: 126,068,098 (GRCm39)	D519N	probably damaging	Het
Slitrk6	T	C	14: 110,987,704 (GRCm39)	T668A	probably benign	Het
Stkld1	T	A	2: 26,840,650 (GRCm39)	I444N	probably damaging	Het
Sucla2	A	T	14: 73,790,244 (GRCm39)		probably benign	Het
Tmem67	T	A	4: 12,079,918 (GRCm39)	L190F	probably damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Trem2	G	A	17: 48,658,863 (GRCm39)	W191*	probably null	Het
Ube2d4	A	T	15: 58,718,528 (GRCm39)		noncoding transcript	Het
Uimc1	G	T	13: 55,223,617 (GRCm39)	D218E	probably damaging	Het
Wdr62	A	T	7: 29,973,424 (GRCm39)	V95E	probably damaging	Het
Zfhx4	T	C	3: 5,310,203 (GRCm39)	V862A	probably damaging	Het
Zfp462	T	A	4: 55,008,522 (GRCm39)	S163T	probably benign	Het
Zfp704	T	C	3: 9,674,553 (GRCm39)	D76G	unknown	Het

Other mutations in Gm15737

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL01696:Gm15737	APN	6	92,856,802 (GRCm39)	intron	probably benign
IGL03052:Gm15737	APN	6	92,846,481 (GRCm39)	intron	probably benign
R0892:Gm15737	UTSW	6	92,856,721 (GRCm39)	intron	probably benign
R9198:Gm15737	UTSW	6	92,856,640 (GRCm39)	missense	unknown
Z1177:Gm15737	UTSW	6	92,856,872 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CACAGTGTCTGCTCTGGATG -3'
(R):5'- TCAAAGATGTGACCGGCTGC -3'

Sequencing Primer
(F):5'- GTATTCCCTTACATAAAGTCTGACTC -3'
(R):5'- CCCCAGCCAGGACCTGTC -3'

Posted On

2014-12-04