Mutagenetix > Incidental Mutation

Incidental Mutation 'R1055:D17Wsu92e'

94316

Institutional Source

Beutler Lab

Gene Symbol

D17Wsu92e

Ensembl Gene

ENSMUSG00000056692

Gene Name

DNA segment, Chr 17, Wayne State University 92, expressed

Synonyms

MMRRC Submission

039145-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1055 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

27751232-27820558 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 27767936 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 272 (N272S)

Ref Sequence

ENSEMBL: ENSMUSP00000110513 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075076] [ENSMUST00000114859] [ENSMUST00000114863]

AlphaFold

Q3TT38

Predicted Effect

probably damaging
Transcript: ENSMUST00000075076
AA Change: N272S

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000074585
Gene: ENSMUSG00000056692
AA Change: N272S

Domain	Start	End	E-Value	Type
Pfam:UBA_4	25	68	1.6e-13	PFAM
Pfam:N_BRCA1_IG	80	179	1.6e-37	PFAM
low complexity region	257	276	N/A	INTRINSIC
low complexity region	282	291	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114859

SMART Domains

Protein: ENSMUSP00000110509
Gene: ENSMUSG00000056692

Domain	Start	End	E-Value	Type
Pfam:UBA_4	25	69	5.1e-15	PFAM
PDB:4OLE\|D	74	180	2e-9	PDB

Predicted Effect

probably damaging
Transcript: ENSMUST00000114863
AA Change: N272S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000110513
Gene: ENSMUSG00000056692
AA Change: N272S

Domain	Start	End	E-Value	Type
Pfam:UBA_4	25	69	2.2e-14	PFAM
PDB:4OLE\|D	74	180	8e-9	PDB
low complexity region	257	276	N/A	INTRINSIC

Meta Mutation Damage Score

0.3035

Coding Region Coverage

1x: 99.4%
3x: 98.3%
10x: 95.3%
20x: 87.5%

Validation Efficiency

100% (58/58)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I06Rik	A	G	14: 63,973,275	V168A	possibly damaging	Het
A1cf	C	A	19: 31,932,519	T237N	probably benign	Het
Actl10	A	T	2: 154,552,668	Q180L	probably benign	Het
Adcy1	T	C	11: 7,109,075	L327P	probably damaging	Het
Adcy7	T	C	8: 88,318,057		probably benign	Het
Ahctf1	G	A	1: 179,763,486	T1243I	possibly damaging	Het
Akap6	C	T	12: 52,880,672	Q122*	probably null	Het
Apob	G	A	12: 7,994,963	G861D	probably damaging	Het
Arhgef11	A	C	3: 87,717,118	T539P	probably benign	Het
Cd244	T	A	1: 171,577,276	V232E	probably damaging	Het
Chia1	A	C	3: 106,130,883	D365A	probably damaging	Het
Clpsl2	C	T	17: 28,549,526	Q5*	probably null	Het
Clrn1	T	A	3: 58,865,110	I117F	probably benign	Het
Csmd3	A	G	15: 47,881,537	L1354P	probably damaging	Het
Csn2	G	A	5: 87,694,737	P144S	possibly damaging	Het
Dcdc2a	T	A	13: 25,102,610	M172K	probably damaging	Het
Dnah9	A	T	11: 66,160,011	W152R	probably damaging	Het
Dnmt3a	T	A	12: 3,872,864	S82T	probably benign	Het
Ebf1	A	G	11: 44,632,775	K146E	probably damaging	Het
Gfpt2	A	C	11: 49,827,211	R504S	probably damaging	Het
Gpank1	T	A	17: 35,124,308	S255T	probably damaging	Het
Greb1	T	C	12: 16,682,251	M1570V	probably damaging	Het
Gtf2i	A	T	5: 134,263,624	I403K	probably damaging	Het
Hoxc11	T	A	15: 102,954,835	C104S	probably damaging	Het
Hsh2d	G	A	8: 72,200,460	D229N	probably benign	Het
Khdrbs2	A	T	1: 32,644,157		probably benign	Het
Lix1l	G	T	3: 96,621,310	G200V	probably damaging	Het
Lrrc23	T	C	6: 124,778,151	N141S	probably damaging	Het
March11	A	T	15: 26,309,662	D134V	probably damaging	Het
Myo9a	A	T	9: 59,855,370	T795S	probably benign	Het
Nhsl1	T	A	10: 18,525,475	D782E	probably benign	Het
Nptxr	T	C	15: 79,790,255		probably benign	Het
Nrp1	A	G	8: 128,468,598	M512V	possibly damaging	Het
Ofcc1	C	T	13: 40,208,829	G206R	probably benign	Het
Olfr1126	ATTGCTACTC	A	2: 87,457,437		probably benign	Het
Olfr1469	G	A	19: 13,411,390	A274T	probably benign	Het
Pard3	T	C	8: 127,378,280	F267S	probably benign	Het
Pomt2	G	A	12: 87,147,480	T50M	possibly damaging	Het
Qsox2	A	G	2: 26,214,125	Y298H	probably damaging	Het
Rabgap1	A	G	2: 37,492,068	K450E	possibly damaging	Het
Rpa1	A	T	11: 75,302,732	V591D	probably damaging	Het
Sall3	A	C	18: 80,969,792	M1143R	probably benign	Het
Scgb1b19	G	T	7: 33,287,343	A13S	unknown	Het
Scn1a	T	C	2: 66,337,996	T89A	probably benign	Het
Sdk2	C	T	11: 113,838,646		silent	Het
Sdr42e1	T	G	8: 117,663,584	N106T	probably damaging	Het
Shpk	A	T	11: 73,215,119	M266L	probably benign	Het
Slc34a1	G	T	13: 55,403,033	R139L	probably benign	Het
Smbd1	C	A	16: 32,806,718	D67Y	probably damaging	Het
Srd5a3	A	G	5: 76,153,638	N238S	probably benign	Het
Tmprss2	T	C	16: 97,576,262	N212D	probably damaging	Het
Uap1	G	T	1: 170,156,911		probably benign	Het
Ugt1a6a	A	G	1: 88,139,014	M181V	probably benign	Het
Vmn2r32	C	T	7: 7,474,327	W355*	probably null	Het
Vmn2r86	T	A	10: 130,446,357	S797C	probably damaging	Het
Wiz	A	G	17: 32,387,642	S40P	probably damaging	Het
Zfand6	A	G	7: 84,615,973		probably benign	Het
Zfp280d	G	A	9: 72,329,167		probably null	Het

Other mutations in D17Wsu92e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00916:D17Wsu92e	APN	17	27767919	missense	probably damaging	1.00
IGL01107:D17Wsu92e	APN	17	27786069	critical splice donor site	probably null
IGL01805:D17Wsu92e	APN	17	27767906	splice site	probably benign
detroit	UTSW	17	27794070	splice site	probably null
michigander	UTSW	17	27767986	missense	probably benign	0.12
R0423:D17Wsu92e	UTSW	17	27786233	missense	probably damaging	1.00
R0833:D17Wsu92e	UTSW	17	27786138	missense	probably damaging	1.00
R0836:D17Wsu92e	UTSW	17	27786138	missense	probably damaging	1.00
R1251:D17Wsu92e	UTSW	17	27786070	critical splice donor site	probably null
R1646:D17Wsu92e	UTSW	17	27793960	missense	probably damaging	1.00
R4022:D17Wsu92e	UTSW	17	27786262	missense	probably damaging	0.97
R4604:D17Wsu92e	UTSW	17	27820315	missense	probably damaging	1.00
R5360:D17Wsu92e	UTSW	17	27794046	missense	probably damaging	1.00
R6210:D17Wsu92e	UTSW	17	27767986	missense	probably benign	0.12
R7201:D17Wsu92e	UTSW	17	27794070	splice site	probably null
R7994:D17Wsu92e	UTSW	17	27767943	missense	probably benign
R8057:D17Wsu92e	UTSW	17	27767889	missense	unknown
R8767:D17Wsu92e	UTSW	17	27768069	missense	probably benign	0.01
R9269:D17Wsu92e	UTSW	17	27786075	nonsense	probably null
R9629:D17Wsu92e	UTSW	17	27793939	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CCTCAGATTTCAACACCCGAGTCAG -3'
(R):5'- GGAAACTTCAACCCGTTTGCCTCTC -3'

Sequencing Primer
(F):5'- AAGACGGCTGACTCATGGTG -3'
(R):5'- GTTTGCCTCTCCCCAAAAGAAC -3'

Posted On

2014-01-05