Mutagenetix > Incidental Mutations

Incidental Mutation 'R6272:AW551984'

507402

Institutional Source

Beutler Lab

Gene Symbol

AW551984

Ensembl Gene

ENSMUSG00000038112

Gene Name

expressed sequence AW551984

Synonyms

MMRRC Submission

Accession Numbers

Genbank: NM_178737; MGI: 2143322

Is this an essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R6272 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

39587396-39604403 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 39598037 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 269 (D269E)

Ref Sequence

ENSEMBL: ENSMUSP00000113212 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042485] [ENSMUST00000119722] [ENSMUST00000130829] [ENSMUST00000141370]

Predicted Effect

probably benign
Transcript: ENSMUST00000042485
AA Change: D269E

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000042582
Gene: ENSMUSG00000038112
AA Change: D269E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000119722
AA Change: D269E

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000113212
Gene: ENSMUSG00000038112
AA Change: D269E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000130829

SMART Domains

Protein: ENSMUSP00000117262
Gene: ENSMUSG00000038112

Domain	Start	End	E-Value	Type
Pfam:VIT_2	5	52	1.4e-10	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136814

Predicted Effect

probably benign
Transcript: ENSMUST00000141370

SMART Domains

Protein: ENSMUSP00000117328
Gene: ENSMUSG00000038112

Domain	Start	End	E-Value	Type
VIT	1	131	1.59e-47	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.3%

Validation Efficiency

98% (55/56)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgra3	A	T	5: 50,009,449	M187K	possibly damaging	Het
Adgrg3	A	G	8: 95,036,261	I189V	noncoding transcript	Het
Ampd1	A	G	3: 103,085,383	K147R	possibly damaging	Het
Apbb2	T	C	5: 66,311,072	T561A	probably damaging	Het
Arfgef3	A	T	10: 18,646,963	D438E	probably benign	Het
Atxn1	T	A	13: 45,567,762	Q219L	possibly damaging	Het
Cryab	A	G	9: 50,754,525	K72R	possibly damaging	Het
Dbn1	G	A	13: 55,475,104	A522V	probably benign	Het
Dip2a	A	T	10: 76,286,407	*158R	probably null	Het
Edrf1	C	T	7: 133,637,808		probably benign	Het
Ern2	A	T	7: 122,176,646	D408E	probably benign	Het
F830016B08Rik	T	C	18: 60,300,078	S78P	probably damaging	Het
Fah	C	A	7: 84,595,545	G137C	probably damaging	Het
Fam208b	C	T	13: 3,581,891	R870H	possibly damaging	Het
Foxd3	A	G	4: 99,656,740	D39G	probably damaging	Het
Gm3854	C	T	7: 6,353,845	P219L	probably damaging	Het
Gprin3	G	A	6: 59,353,331	Q664*	probably null	Het
H2-Ob	T	C	17: 34,242,644	I119T	probably benign	Het
Hist1h3e	A	T	13: 23,562,226	V47E	probably damaging	Het
Hmgcll1	G	A	9: 76,130,345	G174R	probably damaging	Het
Kbtbd11	T	A	8: 15,029,118	C572*	probably null	Het
Kynu	A	T	2: 43,634,989	N315Y	probably benign	Het
Map1lc3b	G	A	8: 121,596,690	E100K	probably benign	Het
Matn2	T	A	15: 34,355,607	Q33L	possibly damaging	Het
Mettl8	T	C	2: 70,976,075		probably null	Het
Neto1	A	T	18: 86,494,815	N312Y	probably damaging	Het
Nhsl1	A	G	10: 18,524,505	D493G	probably benign	Het
Nup210l	A	G	3: 90,170,024	E889G	possibly damaging	Het
Olfr1153	G	A	2: 87,896,657	V153I	probably benign	Het
Olfr1383	C	A	11: 49,524,126	S134R	possibly damaging	Het
Olfr1402	A	G	3: 97,410,891	F97L	probably benign	Het
Olfr209	A	C	16: 59,361,585	M211R	possibly damaging	Het
Olfr296-ps1	A	G	7: 86,561,873	Y47C	unknown	Het
Olfr420	C	T	1: 174,159,175	T134I	probably benign	Het
Olfr967	A	T	9: 39,750,520	M45L	probably benign	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Phc2	A	G	4: 128,709,647	Y190C	probably damaging	Het
Platr25	T	C	13: 62,672,997	T347A	possibly damaging	Het
Plec	T	C	15: 76,174,853	E3655G	probably damaging	Het
Plekhg3	A	T	12: 76,576,845	Q954L	probably benign	Het
Pnpla1	G	A	17: 28,881,368	G403E	probably benign	Het
Prdm4	G	A	10: 85,907,830	T187I	possibly damaging	Het
Prg4	T	C	1: 150,454,766		probably benign	Het
Prpf18	G	A	2: 4,633,447	R312W	probably damaging	Het
Rnf213	T	A	11: 119,414,548	V535D	probably damaging	Het
Rtcb	A	T	10: 85,955,774	N39K	probably damaging	Het
Slc4a3	G	A	1: 75,554,697		probably null	Het
Szt2	A	C	4: 118,374,290		probably benign	Het
Tfap2e	A	T	4: 126,721,864	V259D	probably damaging	Het
Trav19	A	G	14: 53,845,798	D110G	probably damaging	Het
Ttc17	A	C	2: 94,358,755	C749W	probably damaging	Het
Ttc8	A	G	12: 98,982,494	K490E	possibly damaging	Het
Ube4b	A	G	4: 149,387,133	S99P	probably damaging	Het
Ubqln3	C	T	7: 104,142,178	R235H	probably damaging	Het
Vmn2r61	A	T	7: 42,299,818	D554V	probably damaging	Het
Vmn2r70	A	T	7: 85,558,986	V761E	probably damaging	Het
Vmn2r97	T	C	17: 18,947,599	I705T	possibly damaging	Het
Wwox	G	A	8: 114,488,952	C155Y	probably damaging	Het
Zfp451	T	C	1: 33,803,244		probably benign	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
IGL01411:AW551984	APN	9	39593791	missense	possibly damaging	0.69
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
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
Z1088:AW551984	UTSW	9	39590603	nonsense	probably null
ZE80:AW551984	UTSW	9	39593667	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- TGTACTCTAAGGAAACCCCAAG -3'
(R):5'- GGTTGGCCATGGACTCATTC -3'

Sequencing Primer
(F):5'- TCTCCAACAGAGCTGAACTG -3'
(R):5'- ATGGACTCATTCTGCCTCCCAG -3'

Posted On

2018-03-15