Mutagenetix > Incidental Mutation

Incidental Mutation 'R6881:Stoml1'

536673

Institutional Source

Beutler Lab

Gene Symbol

Stoml1

Ensembl Gene

ENSMUSG00000032333

Gene Name

stomatin-like 1

Synonyms

WPB72, SLP-1, 1810015E19Rik, UNC-24

MMRRC Submission

045030-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6881 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58160447-58169803 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58168177 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 296 (L296P)

Ref Sequence

ENSEMBL: ENSMUSP00000034883 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034883] [ENSMUST00000216864] [ENSMUST00000216877] [ENSMUST00000217165]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000034883
AA Change: L296P

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

SMART Domains

Protein: ENSMUSP00000034883
Gene: ENSMUSG00000032333
AA Change: L296P

Domain	Start	End	E-Value	Type
low complexity region	57	69	N/A	INTRINSIC
PHB	77	237	7.08e-42	SMART
Pfam:SCP2	292	396	7.2e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000216864

Predicted Effect

probably benign
Transcript: ENSMUST00000216877

Predicted Effect

probably benign
Transcript: ENSMUST00000217165

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

98% (53/54)

MGI Phenotype

PHENOTYPE: Mice homozygous for a gene-trapped allele are viable and free of overt neurological phenotypes but show a mild, but specific, disinhibition of certain proton-gated currents in dorsal root ganglia neurons. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406C07Rik	A	C	9: 15,202,061 (GRCm39)	C187G	possibly damaging	Het
Abhd16a	C	T	17: 35,315,577 (GRCm39)	T208I	probably benign	Het
Ahcyl1	A	T	3: 107,575,425 (GRCm39)	H425Q	probably damaging	Het
Ankrd22	T	A	19: 34,126,782 (GRCm39)	N16I	probably damaging	Het
Cc2d2b	A	G	19: 40,813,483 (GRCm39)	E1321G	probably damaging	Het
Ccdc7b	A	G	8: 129,799,028 (GRCm39)	E35G	probably damaging	Het
Chsy3	A	G	18: 59,312,480 (GRCm39)	I318V	probably damaging	Het
Clrn2	G	A	5: 45,611,164 (GRCm39)	W4*	probably null	Het
Cmip	T	C	8: 118,163,334 (GRCm39)	I355T	possibly damaging	Het
Cmya5	C	T	13: 93,226,800 (GRCm39)	V2763M	probably damaging	Het
Cnnm2	T	C	19: 46,865,658 (GRCm39)	S749P	probably damaging	Het
Cyp1a1	G	T	9: 57,608,002 (GRCm39)	R210L	possibly damaging	Het
Dmxl1	G	A	18: 50,068,372 (GRCm39)	S2715N	probably benign	Het
Dync1h1	T	C	12: 110,590,995 (GRCm39)	L1021P	probably damaging	Het
Ecm2	C	T	13: 49,683,818 (GRCm39)	Q599*	probably null	Het
Galnt11	G	T	5: 25,455,097 (GRCm39)	K144N	possibly damaging	Het
Gm45861	A	G	8: 28,025,279 (GRCm39)		probably null	Het
Kcnk18	T	A	19: 59,208,390 (GRCm39)	D75E	probably benign	Het
Kcnk2	C	T	1: 188,942,187 (GRCm39)	V346M	probably benign	Het
Klhl33	T	A	14: 51,128,929 (GRCm39)	M767L	probably benign	Het
Knl1	T	C	2: 118,925,665 (GRCm39)	I1898T	possibly damaging	Het
Lama5	G	A	2: 179,833,455 (GRCm39)	P1519L	probably damaging	Het
Lamp3	T	C	16: 19,518,368 (GRCm39)	T290A	probably benign	Het
Larp1	T	A	11: 57,940,849 (GRCm39)	D658E	probably damaging	Het
Macf1	T	A	4: 123,326,246 (GRCm39)	I3521F	probably damaging	Het
Med12l	T	C	3: 59,174,586 (GRCm39)	S1835P	probably benign	Het
Mef2c	C	A	13: 83,741,061 (GRCm39)	N73K	probably damaging	Het
Mtmr3	T	C	11: 4,439,725 (GRCm39)	S572G	probably benign	Het
Neto2	A	T	8: 86,367,185 (GRCm39)	S520T	probably damaging	Het
Or10ak16	A	G	4: 118,750,304 (GRCm39)	N8S	probably damaging	Het
Or1o4	A	G	17: 37,591,200 (GRCm39)	L37S	probably benign	Het
Or4c110	A	T	2: 88,832,281 (GRCm39)	M117K	probably damaging	Het
P3h2	G	A	16: 25,811,495 (GRCm39)	R243C	probably damaging	Het
Pld1	T	C	3: 28,132,563 (GRCm39)	S584P	possibly damaging	Het
Prkcz	T	C	4: 155,353,513 (GRCm39)	N278S	possibly damaging	Het
Radil	A	G	5: 142,472,672 (GRCm39)	S913P	probably benign	Het
Retreg2	A	C	1: 75,123,083 (GRCm39)	Q337P	probably damaging	Het
Sh3gl3	A	G	7: 81,956,178 (GRCm39)	E305G	possibly damaging	Het
Shank1	G	T	7: 44,001,217 (GRCm39)	D979Y	unknown	Het
Slc35a5	A	T	16: 44,964,443 (GRCm39)	N263K	possibly damaging	Het
Slc4a7	A	T	14: 14,737,452 (GRCm38)	M127L	probably benign	Het
Slc8a2	G	A	7: 15,891,282 (GRCm39)	G774E	probably damaging	Het
Smim45	C	A	15: 82,143,786 (GRCm39)	H3N	possibly damaging	Het
Snap91	A	G	9: 86,655,646 (GRCm39)	S847P	possibly damaging	Het
Tap1	G	T	17: 34,407,008 (GRCm39)	G52V	probably damaging	Het
Tent4b	T	C	8: 88,977,416 (GRCm39)	V363A	possibly damaging	Het
Tnfrsf11b	T	C	15: 54,117,539 (GRCm39)	R239G	probably benign	Het
Ttn	T	C	2: 76,536,846 (GRCm39)	Y34993C	probably damaging	Het
Uchl1	T	C	5: 66,841,065 (GRCm39)	F165L	probably damaging	Het
Xrcc1	C	T	7: 24,246,776 (GRCm39)	Q15*	probably null	Het
Zkscan7	C	G	9: 122,717,766 (GRCm39)	Q54E	possibly damaging	Het

Other mutations in Stoml1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01680:Stoml1	APN	9	58,163,996 (GRCm39)	missense	probably damaging	0.96
IGL02693:Stoml1	APN	9	58,164,359 (GRCm39)	missense	probably damaging	0.99
IGL03180:Stoml1	APN	9	58,168,200 (GRCm39)	missense	probably damaging	1.00
R1464:Stoml1	UTSW	9	58,167,709 (GRCm39)	unclassified	probably benign
R5632:Stoml1	UTSW	9	58,160,653 (GRCm39)	missense	probably damaging	1.00
R5836:Stoml1	UTSW	9	58,168,123 (GRCm39)	missense	probably benign
R6558:Stoml1	UTSW	9	58,163,951 (GRCm39)	missense	probably damaging	1.00
R6652:Stoml1	UTSW	9	58,164,017 (GRCm39)	missense	probably damaging	0.99
R7006:Stoml1	UTSW	9	58,167,523 (GRCm39)	missense	probably damaging	0.96
R7607:Stoml1	UTSW	9	58,163,941 (GRCm39)	missense	probably damaging	1.00
R9136:Stoml1	UTSW	9	58,168,236 (GRCm39)	missense	possibly damaging	0.83
R9156:Stoml1	UTSW	9	58,164,409 (GRCm39)	missense
R9471:Stoml1	UTSW	9	58,163,968 (GRCm39)	missense	probably damaging	1.00
X0020:Stoml1	UTSW	9	58,168,084 (GRCm39)	missense	probably benign	0.08
X0058:Stoml1	UTSW	9	58,164,449 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ACCTCATGCAGAGCACTGAC -3'
(R):5'- AATGAGGGCTCCTGGCTATC -3'

Sequencing Primer
(F):5'- AGAGCACTGACCTAGTCTCTG -3'
(R):5'- TCTGGTGCATCTGAAGACAGCTAC -3'

Posted On

2018-10-18