Mutagenetix > Incidental Mutation

Incidental Mutation 'R6915:BC024139'

539305

Institutional Source

Beutler Lab

Gene Symbol

BC024139

Ensembl Gene

ENSMUSG00000044361

Gene Name

cDNA sequence BC024139

Synonyms

6230424I18Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R6915 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

76119517-76126596 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 76120021 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 739 (N739K)

Ref Sequence

ENSEMBL: ENSMUSP00000053305 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054022] [ENSMUST00000089654] [ENSMUST00000146157] [ENSMUST00000226781]

AlphaFold

Q8BVJ3

Predicted Effect

probably benign
Transcript: ENSMUST00000054022
AA Change: N739K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000053305
Gene: ENSMUSG00000044361
AA Change: N739K

Domain	Start	End	E-Value	Type
low complexity region	61	79	N/A	INTRINSIC
SPEC	91	177	8.82e-1	SMART
SPEC	184	283	2.74e-2	SMART
coiled coil region	314	337	N/A	INTRINSIC
low complexity region	469	485	N/A	INTRINSIC
Pfam:GAS2	672	701	3.9e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000089654

SMART Domains

Protein: ENSMUSP00000087082
Gene: ENSMUSG00000044361

Domain	Start	End	E-Value	Type
low complexity region	61	79	N/A	INTRINSIC
SPEC	91	177	8.82e-1	SMART
SPEC	184	283	2.74e-2	SMART
coiled coil region	314	337	N/A	INTRINSIC
low complexity region	469	485	N/A	INTRINSIC
Pfam:GAS2	671	703	3.1e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000146157

SMART Domains

Protein: ENSMUSP00000117783
Gene: ENSMUSG00000044361

Domain	Start	End	E-Value	Type
low complexity region	61	79	N/A	INTRINSIC
SPEC	91	177	8.82e-1	SMART
SPEC	184	283	2.74e-2	SMART
coiled coil region	314	337	N/A	INTRINSIC
low complexity region	469	485	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000226781

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.3%

Validation Efficiency

97% (63/65)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adck1	C	A	12: 88,455,620	L334I	probably damaging	Het
Akap9	T	A	5: 3,960,551	M436K	probably benign	Het
Ankmy1	A	C	1: 92,888,451	F314V	probably null	Het
Arid5b	G	A	10: 68,186,212	Q183*	probably null	Het
Atp8b4	A	T	2: 126,358,914	L778*	probably null	Het
Carns1	T	G	19: 4,169,913	H441P	probably benign	Het
Cfap70	T	A	14: 20,409,085	I693F	probably benign	Het
Cldn3	A	G	5: 134,986,572	Q43R	probably damaging	Het
Col7a1	C	T	9: 108,967,618	P1608L	probably benign	Het
Cr2	T	A	1: 195,171,146	Y28F	probably benign	Het
Cyp2c38	T	A	19: 39,436,068	I269F	probably damaging	Het
Dapk1	A	T	13: 60,696,442	I92F	probably damaging	Het
Dennd4a	T	A	9: 64,852,489	L292*	probably null	Het
Dhx38	T	C	8: 109,559,599	E353G	probably benign	Het
Dnm3	T	C	1: 162,318,397		probably null	Het
Dzip3	T	C	16: 48,942,125	I794V	possibly damaging	Het
Eif2b5	T	A	16: 20,502,750	V351D	possibly damaging	Het
Epg5	T	A	18: 77,979,165	V1041E	probably benign	Het
Exoc4	A	G	6: 33,921,453	K869R	possibly damaging	Het
Fat3	C	A	9: 16,377,748	V160F	probably benign	Het
Gak	A	T	5: 108,602,950	Y365N	probably benign	Het
Ghrhr	T	A	6: 55,383,119		probably null	Het
Gm21738	A	G	14: 19,415,933	M202T	probably benign	Het
Gm6583	A	T	5: 112,354,657	W394R	probably damaging	Het
Havcr2	C	T	11: 46,475,911	S177L	probably benign	Het
Hkdc1	G	C	10: 62,401,932	R353G	possibly damaging	Het
Ifi208	G	A	1: 173,682,878	G200S	probably damaging	Het
Klhl20	T	C	1: 161,093,696	D63G	possibly damaging	Het
Lair1	A	T	7: 4,055,953	V12E	possibly damaging	Het
Lipo3	T	C	19: 33,584,893	N26D	probably damaging	Het
Lyst	T	A	13: 13,726,044	D3168E	probably benign	Het
Map6	G	A	7: 99,268,247	A76T	probably damaging	Het
Mcoln3	A	T	3: 146,137,256		probably null	Het
Muc4	T	C	16: 32,766,938	F2718L	probably benign	Het
Nek11	C	G	9: 105,393,057		probably benign	Het
Olfr1428	A	G	19: 12,109,126	V140A	probably benign	Het
Olfr372	C	A	8: 72,057,730	L17I	probably benign	Het
Olfr964-ps1	T	C	9: 39,686,536	E136G	unknown	Het
Pcdh15	A	T	10: 74,643,809	E846V	probably benign	Het
Pcdhga8	C	T	18: 37,725,945	T18M	probably benign	Het
Per3	T	C	4: 151,043,649	M61V	possibly damaging	Het
Pfas	C	T	11: 68,992,181	R759Q	probably benign	Het
Pitpnm1	A	G	19: 4,106,947	Y490C	possibly damaging	Het
Plcb4	A	T	2: 135,947,115	I272F	possibly damaging	Het
Ppp1r3b	A	G	8: 35,384,667	Y220C	probably damaging	Het
Prkce	G	C	17: 86,493,407	G417A	probably damaging	Het
Ptar1	A	G	19: 23,703,137	N106D	probably damaging	Het
Rbm15	C	A	3: 107,332,311	R257L	probably benign	Het
Rptor	T	G	11: 119,756,345	M254R	probably damaging	Het
Runx1t1	T	A	4: 13,865,257	W350R	probably damaging	Het
Ryr2	T	G	13: 11,745,601	Y1532S	probably damaging	Het
Serpina1a	C	A	12: 103,853,851	V379L	possibly damaging	Het
Sox8	C	T	17: 25,567,914	V272I	probably damaging	Het
Spert	T	A	14: 75,592,658	T32S	probably benign	Het
Stard9	C	T	2: 120,702,630	H3123Y	probably benign	Het
Taar9	C	T	10: 24,109,012	E175K	possibly damaging	Het
Tinag	T	A	9: 77,001,615	Y348F	probably damaging	Het
Tktl2	T	C	8: 66,513,035	I415T	probably damaging	Het
Tm7sf2	G	T	19: 6,068,312	R718S	probably damaging	Het
Tmem229a	G	T	6: 24,954,658	Q366K	probably benign	Het
Txndc2	T	C	17: 65,638,291	D297G	probably benign	Het
Ulk4	A	G	9: 121,258,820	F269L	probably benign	Het
Vps39	A	T	2: 120,321,031	Y738*	probably null	Het

Other mutations in BC024139

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00433:BC024139	APN	15	76125100	missense	probably benign	0.06
IGL01684:BC024139	APN	15	76124685	missense	probably damaging	1.00
IGL01780:BC024139	APN	15	76121143	missense	probably benign	0.01
IGL03084:BC024139	APN	15	76119807	missense	probably benign	0.00
IGL03242:BC024139	APN	15	76120320	missense	probably benign	0.32
IGL03386:BC024139	APN	15	76121745	missense	probably benign	0.18
R0018:BC024139	UTSW	15	76120887	nonsense	probably null
R0018:BC024139	UTSW	15	76120887	nonsense	probably null
R0153:BC024139	UTSW	15	76121747	missense	probably damaging	0.96
R0789:BC024139	UTSW	15	76121083	missense	possibly damaging	0.51
R1158:BC024139	UTSW	15	76120342	unclassified	probably benign
R1515:BC024139	UTSW	15	76124326	missense	possibly damaging	0.83
R1840:BC024139	UTSW	15	76120642	missense	probably benign
R1845:BC024139	UTSW	15	76125261	nonsense	probably null
R2159:BC024139	UTSW	15	76121488	missense	probably damaging	0.96
R2264:BC024139	UTSW	15	76125917	missense	probably damaging	1.00
R2680:BC024139	UTSW	15	76121739	missense	probably damaging	0.98
R2697:BC024139	UTSW	15	76120193	unclassified	probably benign
R4113:BC024139	UTSW	15	76121627	missense	probably benign	0.35
R4630:BC024139	UTSW	15	76125094	missense	probably benign	0.23
R4825:BC024139	UTSW	15	76120317	missense	possibly damaging	0.84
R4865:BC024139	UTSW	15	76126066	missense	possibly damaging	0.56
R5208:BC024139	UTSW	15	76124665	missense	probably benign	0.03
R5369:BC024139	UTSW	15	76120222	missense	probably benign	0.02
R5371:BC024139	UTSW	15	76120686	makesense	probably null
R5897:BC024139	UTSW	15	76126139	missense	possibly damaging	0.84
R6110:BC024139	UTSW	15	76119796	missense	probably benign
R6374:BC024139	UTSW	15	76120457	critical splice donor site	probably null
R6823:BC024139	UTSW	15	76119746	makesense	probably null
R7075:BC024139	UTSW	15	76124399	missense	probably benign	0.06
R7669:BC024139	UTSW	15	76120568	missense	possibly damaging	0.93
R8340:BC024139	UTSW	15	76121470	missense	probably benign	0.03
R8355:BC024139	UTSW	15	76119807	missense	probably benign	0.00
R8455:BC024139	UTSW	15	76119807	missense	probably benign	0.00
R8481:BC024139	UTSW	15	76120682	missense	probably damaging	0.99
R8507:BC024139	UTSW	15	76120133	missense	possibly damaging	0.53
R8804:BC024139	UTSW	15	76124084	missense	possibly damaging	0.92
R8876:BC024139	UTSW	15	76126120	missense	possibly damaging	0.86
R9213:BC024139	UTSW	15	76125222	missense	probably benign	0.00
R9542:BC024139	UTSW	15	76125515	missense	probably damaging	0.99
R9555:BC024139	UTSW	15	76121159	missense	possibly damaging	0.68
X0066:BC024139	UTSW	15	76124002	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CAGGCTTCATCTCACCATTCAG -3'
(R):5'- ATGACCCAGTCAGAGGTGAG -3'

Sequencing Primer
(F):5'- AGCTCCCTGACATTTCCCAC -3'
(R):5'- ACATGTAAGTCATCAGGGTGTG -3'

Posted On

2018-11-06