Mutagenetix > Incidental Mutation

Incidental Mutation 'R9198:Gm15737'

698041

Institutional Source

Beutler Lab

Gene Symbol

Gm15737

Ensembl Gene

ENSMUSG00000079462

Gene Name

predicted gene 15737

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Not available question?

Stock #

R9198 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

92846338-92861392 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 92856640 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 23 (E23V)

Ref Sequence

ENSEMBL: ENSMUSP00000109061 (fasta)

Gene Model

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

AlphaFold

D3YZR0

Predicted Effect

unknown
Transcript: ENSMUST00000113434
AA Change: E23V

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

Meta Mutation Damage Score

0.0852

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.5%

Validation Efficiency

97% (61/63)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam22	A	G	5: 8,167,583 (GRCm39)		probably null	Het
Adamts9	A	T	6: 92,837,170 (GRCm39)	S1164T	probably benign	Het
Bcat1	A	T	6: 144,985,222 (GRCm39)	I140N	probably damaging	Het
Bod1l	T	C	5: 41,957,129 (GRCm39)	T2832A	probably benign	Het
Brca2	A	T	5: 150,459,977 (GRCm39)	E417D	possibly damaging	Het
Ccdc88b	T	C	19: 6,831,268 (GRCm39)	D558G	possibly damaging	Het
Ccdc88b	T	C	19: 6,833,213 (GRCm39)	E278G	probably damaging	Het
Celsr1	G	T	15: 85,917,286 (GRCm39)	S229*	probably null	Het
Cenpf	G	T	1: 189,388,987 (GRCm39)	T1615K	probably damaging	Het
Cep250	T	C	2: 155,830,354 (GRCm39)		probably null	Het
Clec4d	T	C	6: 123,251,757 (GRCm39)	F213S	probably damaging	Het
Clip4	G	A	17: 72,117,884 (GRCm39)	G310R	probably damaging	Het
Csmd1	G	A	8: 15,962,430 (GRCm39)	R3255W	probably damaging	Het
Ctsm	T	C	13: 61,687,612 (GRCm39)	D82G	probably damaging	Het
Cyp26a1	A	G	19: 37,686,790 (GRCm39)	T81A	probably damaging	Het
Dld	A	G	12: 31,390,885 (GRCm39)	V187A	probably benign	Het
Dmrt2	T	A	19: 25,655,477 (GRCm39)	Y359N	probably benign	Het
Dnah9	T	C	11: 65,846,570 (GRCm39)	N2914S	probably benign	Het
Dpyd	A	T	3: 118,553,303 (GRCm39)		probably null	Het
Fgl2	A	C	5: 21,577,920 (GRCm39)	Q69P	probably damaging	Het
Gadd45gip1	A	T	8: 85,560,780 (GRCm39)	I132F	probably damaging	Het
Gm15446	T	C	5: 110,090,743 (GRCm39)	C332R	probably damaging	Het
Gm5111	A	G	6: 48,567,037 (GRCm39)	H84R	unknown	Het
Golga3	G	A	5: 110,355,619 (GRCm39)	S991N	probably benign	Het
H2-M10.3	A	G	17: 36,678,919 (GRCm39)	Y50H	probably damaging	Het
Hivep2	C	T	10: 14,005,621 (GRCm39)	H740Y	probably benign	Het
Il18rap	C	T	1: 40,582,177 (GRCm39)	T366M	probably benign	Het
Ints7	T	A	1: 191,351,872 (GRCm39)	S860R	probably benign	Het
Lipi	T	A	16: 75,362,461 (GRCm39)	T217S	possibly damaging	Het
Lrrc2	G	T	9: 110,791,722 (GRCm39)	C158F	probably benign	Het
Lrrc30	T	C	17: 67,938,854 (GRCm39)	D242G	probably benign	Het
Map1a	A	T	2: 121,133,854 (GRCm39)	M1557L	probably benign	Het
Matn2	A	G	15: 34,423,924 (GRCm39)	E594G	probably damaging	Het
Mfsd12	T	C	10: 81,198,544 (GRCm39)	L345P	probably damaging	Het
Mmp24	A	G	2: 155,640,041 (GRCm39)	R124G	probably benign	Het
Ngef	T	A	1: 87,406,797 (GRCm39)	H240L	unknown	Het
Nmur1	T	G	1: 86,315,256 (GRCm39)	D203A	probably benign	Het
Nt5c3	T	C	6: 56,859,955 (GRCm39)	Q328R	probably benign	Het
Ogfr	T	C	2: 180,232,850 (GRCm39)		probably null	Het
Or4k1	A	T	14: 50,377,990 (GRCm39)	Y35*	probably null	Het
Or52ac1	T	A	7: 104,245,635 (GRCm39)	Y251F	probably damaging	Het
Or5h19	A	G	16: 58,856,263 (GRCm39)	V279A	probably benign	Het
Osbpl10	G	A	9: 115,061,211 (GRCm39)	W588*	probably null	Het
Pask	A	T	1: 93,265,205 (GRCm39)	S17T	possibly damaging	Het
Pfkfb3	C	T	2: 11,491,084 (GRCm39)	R170K	probably damaging	Het
Plec	A	G	15: 76,069,937 (GRCm39)	C960R	unknown	Het
Pramel11	T	A	4: 143,623,646 (GRCm39)	N176I	probably benign	Het
R3hdm2	T	G	10: 127,293,521 (GRCm39)	S142A	probably damaging	Het
Rfx7	T	C	9: 72,524,163 (GRCm39)	L451P	probably damaging	Het
Rimbp2	T	A	5: 128,883,552 (GRCm39)	E76V	probably damaging	Het
Rock2	A	G	12: 17,015,557 (GRCm39)	N818S	probably benign	Het
Ryk	A	T	9: 102,758,854 (GRCm39)	I248F	possibly damaging	Het
Setd2	A	G	9: 110,378,168 (GRCm39)	Q661R	possibly damaging	Het
Siae	T	C	9: 37,539,105 (GRCm39)	V172A	probably benign	Het
Slc35f4	A	G	14: 49,556,377 (GRCm39)	S9P	unknown	Het
Smg1	T	C	7: 117,795,179 (GRCm39)	E456G	unknown	Het
Srgap3	C	T	6: 112,743,865 (GRCm39)	A458T	probably damaging	Het
Tgfbrap1	T	A	1: 43,093,799 (GRCm39)	R564S	probably damaging	Het
Usp15	A	G	10: 123,004,143 (GRCm39)	Y204H	probably damaging	Het
Usp35	A	G	7: 96,962,276 (GRCm39)	Y527H	probably damaging	Het
Usp8	T	A	2: 126,600,524 (GRCm39)	*1092K	probably null	Het
Vmn2r73	A	T	7: 85,518,987 (GRCm39)	M545K	probably benign	Het
Ylpm1	A	T	12: 85,080,689 (GRCm39)		probably null	Het
Zscan22	G	T	7: 12,641,130 (GRCm39)	R458L	probably damaging	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
R2566:Gm15737	UTSW	6	92,856,701 (GRCm39)	nonsense	probably null
Z1177:Gm15737	UTSW	6	92,856,872 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AAAGAATTCTGCACAGTGTCTG -3'
(R):5'- TGATCAAAGATGTGACCGGCTG -3'

Sequencing Primer
(F):5'- GAATTCTGCACAGTGTCTGCTCTG -3'
(R):5'- ACCTGTCACTGAAGCGTG -3'

Posted On

2022-02-07