Mutagenetix > Incidental Mutation

Incidental Mutation 'R7762:Gm48552'

597951

Institutional Source

Beutler Lab

Gene Symbol

Gm48552

Ensembl Gene

ENSMUSG00000114004

Gene Name

predicted gene, 48552

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.456) question?

Stock #

R7762 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

81389005-81391267 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 81390435 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 18 (P18L)

Ref Sequence

ENSEMBL: ENSMUSP00000152264 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072751] [ENSMUST00000105322] [ENSMUST00000118206] [ENSMUST00000121047] [ENSMUST00000125635] [ENSMUST00000134592] [ENSMUST00000142346] [ENSMUST00000144647] [ENSMUST00000156229]

AlphaFold

A0A1Y7VJ29

Predicted Effect

probably benign
Transcript: ENSMUST00000072751

SMART Domains

Protein: ENSMUSP00000072534
Gene: ENSMUSG00000078440

Domain	Start	End	E-Value	Type
EZ_HEAT	21	50	2.06e0	SMART
EZ_HEAT	52	81	1.11e-5	SMART
EZ_HEAT	85	114	4.84e-6	SMART
EZ_HEAT	173	202	6.64e-4	SMART
EZ_HEAT	204	233	4.31e-3	SMART
EZ_HEAT	237	266	2e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000105322

SMART Domains

Protein: ENSMUSP00000100959
Gene: ENSMUSG00000078439

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
transmembrane domain	31	50	N/A	INTRINSIC
low complexity region	82	97	N/A	INTRINSIC
low complexity region	100	113	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000118206

SMART Domains

Protein: ENSMUSP00000113817
Gene: ENSMUSG00000078439

Domain	Start	End	E-Value	Type
low complexity region	34	49	N/A	INTRINSIC
low complexity region	52	65	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000121047

SMART Domains

Protein: ENSMUSP00000113112
Gene: ENSMUSG00000078440

Domain	Start	End	E-Value	Type
EZ_HEAT	21	50	2.06e0	SMART
EZ_HEAT	52	81	1.11e-5	SMART
EZ_HEAT	85	114	4.84e-6	SMART
EZ_HEAT	173	202	4.18e-1	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000125635
AA Change: P18L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000131968
AA Change: P151L

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000115416
Gene: ENSMUSG00000113262
AA Change: P151L

Domain	Start	End	E-Value	Type
EZ_HEAT	31	60	6.64e-4	SMART
EZ_HEAT	62	91	4.31e-3	SMART
EZ_HEAT	95	124	2e-7	SMART
transmembrane domain	171	193	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000134592

SMART Domains

Protein: ENSMUSP00000120386
Gene: ENSMUSG00000078440

Domain	Start	End	E-Value	Type
EZ_HEAT	21	50	2.06e0	SMART
EZ_HEAT	52	74	4.93e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000142346

SMART Domains

Protein: ENSMUSP00000122952
Gene: ENSMUSG00000078440

Domain	Start	End	E-Value	Type
EZ_HEAT	21	50	2.06e0	SMART
EZ_HEAT	52	81	1.11e-5	SMART
EZ_HEAT	85	114	4.84e-6	SMART
internal_repeat_1	156	188	1.17e-6	PROSPERO

Predicted Effect

probably benign
Transcript: ENSMUST00000144647

SMART Domains

Protein: ENSMUSP00000116074
Gene: ENSMUSG00000113262

Domain	Start	End	E-Value	Type
EZ_HEAT	21	50	2.06e0	SMART
EZ_HEAT	52	81	1.11e-5	SMART
EZ_HEAT	85	114	4.84e-6	SMART
EZ_HEAT	173	199	1.34e1	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000156229
AA Change: P18L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (79/79)

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600015I10Rik	G	A	6: 48,932,686	V622I	probably benign	Het
9130011E15Rik	A	G	19: 45,940,443		probably null	Het
Acod1	T	G	14: 103,051,340	D95E	probably damaging	Het
Agpat4	A	G	17: 12,210,322	T154A	possibly damaging	Het
Ahnak2	A	T	12: 112,775,680	S653T	probably benign	Het
Aox2	C	T	1: 58,349,104	P1124S	probably damaging	Het
Atp4a	T	C	7: 30,720,036	I637T	probably damaging	Het
Atxn7	T	A	14: 14,100,467	C718S	probably damaging	Het
Btbd2	T	A	10: 80,643,556	I516F	probably damaging	Het
Card6	A	G	15: 5,105,338	S128P	probably benign	Het
Cat	T	C	2: 103,456,858	K476E	probably benign	Het
Ccr9	A	T	9: 123,779,957	T235S	probably benign	Het
Cep55	T	G	19: 38,069,069		probably null	Het
Clec2e	A	G	6: 129,095,128	F96S	possibly damaging	Het
Clk2	G	A	3: 89,167,191	V53I	probably benign	Het
Clnk	T	C	5: 38,768,141	M106V	probably benign	Het
Col6a5	T	C	9: 105,931,324	I842V	unknown	Het
Csf1r	A	T	18: 61,110,500	N196I	probably benign	Het
D5Ertd579e	A	T	5: 36,613,381	N116K		Het
Dnaja4	A	G	9: 54,709,210	I166V	probably benign	Het
Dqx1	A	G	6: 83,061,032	E467G	probably damaging	Het
Dync2h1	T	C	9: 7,129,719	T1760A	probably benign	Het
Eea1	T	C	10: 96,028,439	V940A	probably benign	Het
Egr1	T	A	18: 34,863,545	V460E	probably damaging	Het
Eral1	A	G	11: 78,074,533	I352T	possibly damaging	Het
F2	T	C	2: 91,628,696	H476R	possibly damaging	Het
Fam83b	A	G	9: 76,492,432	V463A	possibly damaging	Het
Fat1	T	C	8: 45,023,322	S1802P	probably damaging	Het
Fat1	T	A	8: 45,037,337	L3762H	probably damaging	Het
Fibp	A	T	19: 5,464,174	N296Y	probably benign	Het
Figla	A	G	6: 86,017,326	M28V	probably benign	Het
Foxd3	C	A	4: 99,657,125	Y167*	probably null	Het
Gm17019	T	A	5: 15,030,992	H145L	probably benign	Het
Gm340	T	C	19: 41,583,667	L287S	probably benign	Het
Gm9573	G	A	17: 35,622,085	T403I	unknown	Het
H2-Q6	A	G	17: 35,428,101	N283S	probably benign	Het
Hrh2	T	A	13: 54,214,039	C11*	probably null	Het
Hrnr	G	T	3: 93,332,199	G3248V	unknown	Het
Iapp	C	A	6: 142,303,396	N58K	possibly damaging	Het
Itga5	T	C	15: 103,349,757	N837S	probably benign	Het
Klhl35	C	A	7: 99,468,440	H64N	probably benign	Het
Lrba	T	A	3: 86,532,201	V2015E	probably damaging	Het
Mdn1	T	C	4: 32,734,421	I3276T	probably benign	Het
Mlh3	G	T	12: 85,268,284	T376K	possibly damaging	Het
Nbea	A	T	3: 55,649,705	H2550Q	probably damaging	Het
Nid1	G	A	13: 13,489,045	G763D	probably damaging	Het
Ntf5	C	A	7: 45,415,819	A125E	probably damaging	Het
Obsl1	A	T	1: 75,503,523	C460S	probably benign	Het
Olfr1272	T	A	2: 90,296,631	K77*	probably null	Het
Olfr130	G	A	17: 38,067,675	C168Y	probably damaging	Het
Olfr1380	T	A	11: 49,564,761	I280N	possibly damaging	Het
Olfr1496	A	T	19: 13,781,286	R223W	probably damaging	Het
Olfr348	A	T	2: 36,787,010	I162F	probably benign	Het
Olfr820	A	G	10: 130,017,181		probably benign	Het
Olfr933	G	A	9: 38,976,194	V173I	probably benign	Het
Orai3	G	A	7: 127,773,571	G130S	unknown	Het
Pcdhb12	T	G	18: 37,435,924	V41G	probably damaging	Het
Plec	A	T	15: 76,183,623	L1194Q	unknown	Het
Pml	C	A	9: 58,220,173	C763F	probably damaging	Het
Prdm15	T	A	16: 97,818,273	I318F	probably benign	Het
Rcbtb2	C	A	14: 73,178,466	T473N	probably benign	Het
Sbno1	T	A	5: 124,374,666	I1347F	probably benign	Het
Secisbp2l	C	T	2: 125,768,193	D269N	probably damaging	Het
Serpina9	A	T	12: 104,001,316	F273L	probably damaging	Het
Sgms2	T	A	3: 131,323,249	Y319F	probably benign	Het
Sgo2b	A	T	8: 63,926,497	H1100Q	probably benign	Het
Sh3bp5l	A	T	11: 58,345,928		probably null	Het
Shh	T	G	5: 28,466,666	K33T	probably benign	Het
Slc5a9	A	G	4: 111,890,174	Y339H	probably damaging	Het
Spice1	T	A	16: 44,370,501		probably null	Het
Tbx2	A	G	11: 85,835,901	E257G	probably damaging	Het
Tenm2	G	A	11: 36,023,306	T2468I	possibly damaging	Het
Tmeff2	A	T	1: 50,979,416	N186Y	probably benign	Het
Tmem132c	T	C	5: 127,554,696	V673A	possibly damaging	Het
Trappc11	G	T	8: 47,522,376	T269K	probably damaging	Het
Trpc6	T	C	9: 8,653,149	F652S	possibly damaging	Het
Trpv1	G	T	11: 73,254,222	K711N	probably benign	Het
Vcan	G	T	13: 89,692,937	P1496Q	probably damaging	Het
Vmn1r192	G	T	13: 22,187,675	A125E	probably damaging	Het
Vti1b	A	T	12: 79,164,946		probably null	Het
Vwa3b	A	C	1: 37,124,045	D583A	probably damaging	Het
Zfp638	T	C	6: 83,976,272	S1120P	probably damaging	Het
Zfyve26	A	T	12: 79,268,635	F1356I	probably benign	Het

Other mutations in Gm48552

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R7921:Gm48552	UTSW	10	81390992	makesense	probably null

Predicted Primers

PCR Primer
(F):5'- GGAACACTGATCCGGACAGATG -3'
(R):5'- AGTTTGATCTGGCCACGACC -3'

Sequencing Primer
(F):5'- CAGATGGCCTGGAGGAGC -3'
(R):5'- CAGCCCAGGATGGATTAGGC -3'

Posted On

2019-11-26