Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01411:AW551984'

80038

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

AW551984

Ensembl Gene

ENSMUSG00000038112

Gene Name

expressed sequence AW551984

Synonyms

Accession Numbers

Genbank: NM_178737; MGI: 2143322

Is this an essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

IGL01411

Quality Score

Status

Chromosome

Chromosomal Location

39587396-39604403 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 39593791 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 468 (D468E)

Ref Sequence

ENSEMBL: ENSMUSP00000113212 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042485] [ENSMUST00000119722]

AlphaFold

Q8BGF0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000042485
AA Change: D468E

PolyPhen 2 Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000042582
Gene: ENSMUSG00000038112
AA Change: D468E

Domain	Start	End	E-Value	Type
VIT	1	131	1.59e-47	SMART
VWA	279	460	1.04e-6	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000119722
AA Change: D468E

PolyPhen 2 Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000113212
Gene: ENSMUSG00000038112
AA Change: D468E

Domain	Start	End	E-Value	Type
VIT	1	131	1.59e-47	SMART
VWA	279	460	1.04e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128054

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147753

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	G	A	19: 31,911,229	E36K	possibly damaging	Het
Alox8	A	T	11: 69,188,690	S257R	probably benign	Het
Apc2	T	C	10: 80,315,078	S1960P	probably damaging	Het
Arhgap35	T	C	7: 16,564,267	N291S	probably benign	Het
B3gnt6	A	C	7: 98,194,523	F77V	probably damaging	Het
C1qtnf7	A	T	5: 43,609,061	M1L	probably benign	Het
Calm3	T	C	7: 16,917,484	T63A	probably benign	Het
Ccdc33	G	A	9: 58,117,636		probably benign	Het
Cdh4	C	T	2: 179,780,403	R107C	probably damaging	Het
Cdr2l	A	G	11: 115,382,366	E15G	probably damaging	Het
Chil6	A	G	3: 106,388,825	W365R	probably damaging	Het
Ckap5	G	T	2: 91,601,011	R1525L	probably benign	Het
Col6a6	T	A	9: 105,785,958	K127*	probably null	Het
Dclre1b	A	G	3: 103,803,323	V298A	probably damaging	Het
Fat1	T	A	8: 45,026,800	V2961E	probably damaging	Het
Fhit	T	C	14: 9,573,483	D126G	probably benign	Het
Gpc1	T	C	1: 92,857,014	F303S	probably damaging	Het
Hsd17b4	T	A	18: 50,191,814	V698D	probably damaging	Het
Itpr2	C	T	6: 146,376,062		probably null	Het
Klhl4	A	T	X: 114,522,394	D168V	probably damaging	Het
Krt42	A	G	11: 100,263,341	L405P	possibly damaging	Het
Lrp1	A	T	10: 127,581,765	C85*	probably null	Het
Lrp2	A	G	2: 69,482,267	L2559P	probably damaging	Het
Maob	T	G	X: 16,712,569	R448S	possibly damaging	Het
Mast3	A	G	8: 70,779,583	V1250A	possibly damaging	Het
Mfsd4b5	C	T	10: 39,970,727	V286M	probably damaging	Het
Mlip	A	G	9: 77,239,417	I198T	possibly damaging	Het
Mocs3	T	C	2: 168,231,377	V248A	probably damaging	Het
Nxf2	T	A	X: 134,952,112	R367S	probably benign	Het
Olfr1404	T	G	1: 173,216,128	V159G	probably benign	Het
Olfr617	T	C	7: 103,584,117	W32R	probably damaging	Het
Parva	T	C	7: 112,577,010		probably benign	Het
Pot1a	A	T	6: 25,750,144		probably benign	Het
Ptpra	T	C	2: 130,544,439	I603T	probably damaging	Het
Rad9a	T	C	19: 4,201,337	K33E	probably benign	Het
Rimbp3	A	G	16: 17,211,094	D794G	probably damaging	Het
Sept5	G	A	16: 18,624,930	R90C	probably damaging	Het
Skint8	T	A	4: 111,936,906	N164K	probably damaging	Het
Slc30a3	T	G	5: 31,090,080	I73L	probably benign	Het
Stab2	A	T	10: 86,980,008		probably benign	Het
Tnc	C	T	4: 64,000,722	V1155M	probably damaging	Het
Ttc13	T	G	8: 124,683,285	Q525P	probably damaging	Het
Ttn	T	C	2: 76,720,135	E31601G	probably damaging	Het
Unc5a	A	T	13: 55,002,928	D577V	probably damaging	Het
Usp18	G	A	6: 121,261,421	V176M	probably benign	Het
Vmn1r184	T	C	7: 26,266,895	V22A	probably benign	Het
Vmn1r33	T	A	6: 66,611,881	I230F	probably damaging	Het
Vmn1r51	A	G	6: 90,129,404	I101V	probably benign	Het
Vmn2r108	T	A	17: 20,471,020	M414L	probably benign	Het
Vmn2r87	A	C	10: 130,472,560	V603G	probably benign	Het
Wt1	A	G	2: 105,132,974	Y16C	probably damaging	Het
Wwp2	C	T	8: 107,506,345	T159I	probably benign	Het
Xirp2	T	C	2: 67,514,083	F2223L	probably benign	Het
Zan	T	A	5: 137,388,893	H4966L	unknown	Het

Other mutations in AW551984

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00429:AW551984	APN	9	39592849	missense	probably benign	0.16
IGL00869:AW551984	APN	9	39593434	splice site	probably benign
IGL01744:AW551984	APN	9	39591272	missense	probably benign	0.01
IGL02102:AW551984	APN	9	39589691	missense	probably damaging	1.00
IGL02149:AW551984	APN	9	39592924	missense	probably benign	0.06
IGL02151:AW551984	APN	9	39592945	missense	probably benign	0.35
IGL02154:AW551984	APN	9	39589102	missense	possibly damaging	0.93
IGL02158:AW551984	APN	9	39599325	missense	probably null	0.99
IGL02574:AW551984	APN	9	39589086	missense	possibly damaging	0.91
IGL02754:AW551984	APN	9	39596626	nonsense	probably null
IGL02754:AW551984	APN	9	39593328	critical splice donor site	probably null
IGL02838:AW551984	APN	9	39594643	missense	probably damaging	1.00
IGL03240:AW551984	APN	9	39589122	missense	probably benign	0.00
IGL03328:AW551984	APN	9	39597116	missense	probably damaging	1.00
IGL03374:AW551984	APN	9	39599766	missense	possibly damaging	0.52
PIT4260001:AW551984	UTSW	9	39592979	missense	probably benign	0.08
R0141:AW551984	UTSW	9	39590644	missense	probably damaging	1.00
R0269:AW551984	UTSW	9	39599950	missense	probably damaging	1.00
R0365:AW551984	UTSW	9	39599321	missense	probably benign	0.14
R0453:AW551984	UTSW	9	39600641	missense	probably damaging	1.00
R0481:AW551984	UTSW	9	39600616	missense	probably null	1.00
R1005:AW551984	UTSW	9	39593733	nonsense	probably null
R1585:AW551984	UTSW	9	39599336	nonsense	probably null
R2177:AW551984	UTSW	9	39599815	missense	probably benign
R3117:AW551984	UTSW	9	39593360	missense	probably benign	0.08
R3119:AW551984	UTSW	9	39593360	missense	probably benign	0.08
R3162:AW551984	UTSW	9	39593029	missense	probably damaging	1.00
R3162:AW551984	UTSW	9	39593029	missense	probably damaging	1.00
R3836:AW551984	UTSW	9	39597908	unclassified	probably benign
R3837:AW551984	UTSW	9	39597908	unclassified	probably benign
R3839:AW551984	UTSW	9	39597908	unclassified	probably benign
R4299:AW551984	UTSW	9	39592979	missense	probably benign	0.08
R4422:AW551984	UTSW	9	39600077	missense	probably null	0.00
R4713:AW551984	UTSW	9	39597153	missense	probably benign	0.13
R4905:AW551984	UTSW	9	39597158	missense	probably damaging	0.99
R4966:AW551984	UTSW	9	39597176	missense	possibly damaging	0.92
R5022:AW551984	UTSW	9	39597965	missense	probably benign	0.00
R5041:AW551984	UTSW	9	39600598	missense	probably damaging	1.00
R5342:AW551984	UTSW	9	39594551	missense	probably damaging	1.00
R5383:AW551984	UTSW	9	39590698	missense	probably benign
R5443:AW551984	UTSW	9	39598029	missense	possibly damaging	0.94
R5532:AW551984	UTSW	9	39597185	missense	probably damaging	1.00
R5536:AW551984	UTSW	9	39592873	missense	probably benign	0.04
R5586:AW551984	UTSW	9	39591263	missense	probably benign	0.01
R5601:AW551984	UTSW	9	39591267	missense	possibly damaging	0.87
R5618:AW551984	UTSW	9	39590704	missense	probably damaging	1.00
R5701:AW551984	UTSW	9	39592822	missense	probably benign	0.01
R6122:AW551984	UTSW	9	39593755	missense	probably benign	0.00
R6142:AW551984	UTSW	9	39597114	missense	probably benign	0.00
R6272:AW551984	UTSW	9	39598037	missense	probably benign	0.06
R6429:AW551984	UTSW	9	39600614	missense	probably damaging	1.00
R6659:AW551984	UTSW	9	39589099	missense	probably benign	0.00
R6670:AW551984	UTSW	9	39592996	missense	probably damaging	1.00
R6791:AW551984	UTSW	9	39600659	missense	probably damaging	1.00
R7000:AW551984	UTSW	9	39600789	missense	probably benign	0.11
R7077:AW551984	UTSW	9	39591427	missense	probably benign
R7083:AW551984	UTSW	9	39597647	missense	probably damaging	1.00
R7352:AW551984	UTSW	9	39592925	missense	probably benign
R7475:AW551984	UTSW	9	39597940	missense	probably damaging	1.00
R7534:AW551984	UTSW	9	39591481	missense	probably benign	0.03
R7542:AW551984	UTSW	9	39594631	missense	possibly damaging	0.95
R7708:AW551984	UTSW	9	39593755	missense	probably benign	0.00
R7729:AW551984	UTSW	9	39599775	missense	possibly damaging	0.89
R7955:AW551984	UTSW	9	39596664	missense	probably damaging	1.00
R8122:AW551984	UTSW	9	39599369	missense	probably damaging	1.00
R8358:AW551984	UTSW	9	39599355	missense	probably damaging	0.99
R8402:AW551984	UTSW	9	39597653	missense	probably damaging	1.00
R8683:AW551984	UTSW	9	39599709	missense	possibly damaging	0.86
R8810:AW551984	UTSW	9	39600011	missense	probably damaging	1.00
R8857:AW551984	UTSW	9	39600535	missense	probably damaging	1.00
R8871:AW551984	UTSW	9	39589702	nonsense	probably null
R9019:AW551984	UTSW	9	39597677	nonsense	probably null
Z1088:AW551984	UTSW	9	39590603	nonsense	probably null
ZE80:AW551984	UTSW	9	39593667	splice site	probably null

Posted On

2013-11-05