Mutagenetix > Incidental Mutation

Incidental Mutation 'R9629:D17Wsu92e'

725395

Institutional Source

Beutler Lab

Gene Symbol

D17Wsu92e

Ensembl Gene

ENSMUSG00000056692

Gene Name

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

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9629 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

27751232-27820558 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 27793939 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 95 (F95I)

Ref Sequence

ENSEMBL: ENSMUSP00000074585 (fasta)

Gene Model

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

AlphaFold

Q3TT38

Predicted Effect

probably damaging
Transcript: ENSMUST00000075076
AA Change: F95I

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000074585
Gene: ENSMUSG00000056692
AA Change: F95I

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

possibly damaging
Transcript: ENSMUST00000114859
AA Change: F95I

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000110509
Gene: ENSMUSG00000056692
AA Change: F95I

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: F95I

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000110513
Gene: ENSMUSG00000056692
AA Change: F95I

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930596D02Rik	T	C	14: 35,810,177	E147G	probably damaging	Het
Agrn	G	A	4: 156,172,637	Q1217*	probably null	Het
Ankrd13c	G	C	3: 157,947,676	K50N	probably benign	Het
Anks3	C	T	16: 4,957,701	S144N	probably damaging	Het
Apob	A	T	12: 8,009,054	D2512V	probably damaging	Het
Arhgap45	A	G	10: 80,027,860	K815E	probably damaging	Het
Atr	T	A	9: 95,865,045	C127S	probably benign	Het
B4galnt4	A	G	7: 141,068,662	D697G	probably damaging	Het
C2cd3	C	T	7: 100,380,042	L134F	probably damaging	Het
Celsr2	C	T	3: 108,401,599	G1697D	probably damaging	Het
Cep170	A	G	1: 176,756,255	S88P	possibly damaging	Het
Cnot1	A	G	8: 95,729,246	V1961A	probably damaging	Het
Cntnap4	A	G	8: 112,841,717	N795S	probably damaging	Het
Cog2	T	A	8: 124,533,386	V256D	possibly damaging	Het
Col14a1	A	G	15: 55,519,149	Y515C		Het
Cox7a1	A	G	7: 30,185,158	Q30R	probably damaging	Het
Cs	T	C	10: 128,361,016	S427P	probably damaging	Het
Dbr1	T	A	9: 99,582,470	C101S		Het
Dhcr7	C	A	7: 143,847,475	Y461*	probably null	Het
Dis3l2	T	A	1: 87,047,062	M691K	probably benign	Het
Dnah17	T	C	11: 118,088,978	D1751G	probably damaging	Het
Dock10	A	T	1: 80,503,672	I536K		Het
Dok6	G	T	18: 89,473,864	F196L	possibly damaging	Het
Epx	C	T	11: 87,864,825	D678N	probably damaging	Het
Fcrlb	G	C	1: 170,912,166	P56A	probably benign	Het
Flrt3	T	C	2: 140,660,896	R271G	possibly damaging	Het
Galnt15	T	A	14: 32,052,344	L479Q	probably damaging	Het
Gfy	G	A	7: 45,178,361	L104F	probably benign	Het
Gltp	C	T	5: 114,676,321	M80I	probably benign	Het
Gm21560	G	A	14: 6,218,250	T76I	probably benign	Het
Gm5150	A	G	3: 15,990,665	I132T	probably benign	Het
Hdac9	T	C	12: 34,389,390	H437R	probably damaging	Het
Hpgd	C	A	8: 56,298,384	F82L		Het
Ifi207	GAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATGAAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATGAAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGACTATTGGATGGTGTTGATAGAGTTGCTTGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATGAAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATACAGTTGCTTGTGGAGCCAGGAGGTTGCTAGATGCTGTTGAT	GAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATGAAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGACTATTGGATGGTGTTGATAGAGTTGCTTGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATGAAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATACAGTTGCTTGTGGAGCCAGGAGGTTGCTAGATGCTGTTGAT	1: 173,728,995		probably benign	Het
Itgb5	C	T	16: 33,875,925	T162I	probably damaging	Het
Jakmip3	G	A	7: 139,023,389		probably null	Het
Kctd1	A	T	18: 15,063,554	M4K	unknown	Het
Kirrel	C	A	3: 87,095,718	E123*	probably null	Het
Krt83	G	C	15: 101,491,167	P95A	probably benign	Het
Man1a	A	T	10: 53,920,062	H511Q	probably damaging	Het
Megf8	A	G	7: 25,343,769	D1372G	possibly damaging	Het
Mrgprd	A	G	7: 145,321,452	D20G	probably benign	Het
Mrpl54	C	T	10: 81,265,694	G78S	probably damaging	Het
Myl1	T	A	1: 66,930,289	E61D	probably benign	Het
Myo7a	G	T	7: 98,063,730	H1679Q	probably benign	Het
Naca	A	G	10: 128,042,357	E1086G	unknown	Het
Nagpa	C	G	16: 5,199,965	D258H	probably damaging	Het
Nicn1	C	T	9: 108,294,509	R163C	possibly damaging	Het
Nr2f6	G	A	8: 71,374,527	L377F	probably damaging	Het
Ntsr1	G	A	2: 180,541,481	R328H	probably damaging	Het
Nup93	G	A	8: 94,306,639	S592N	probably damaging	Het
Olfr1286	T	A	2: 111,420,792	H53L	probably benign	Het
Olfr714	A	T	7: 107,073,957	N43I	probably damaging	Het
Olfr957	T	C	9: 39,511,201	D173G	probably benign	Het
Pard3	T	C	8: 127,409,672	V842A	possibly damaging	Het
Phospho2	T	A	2: 69,795,951	N150K	probably damaging	Het
Piwil1	T	C	5: 128,753,987	S791P	probably damaging	Het
Pkhd1	A	G	1: 20,392,213	V2039A	possibly damaging	Het
Ppp1r3c	A	G	19: 36,734,004	I122T	probably benign	Het
Prrc2c	A	G	1: 162,692,390	Y2131H	possibly damaging	Het
Qtrt2	T	C	16: 43,863,177	M311V	possibly damaging	Het
Rbbp4	T	C	4: 129,318,450	D346G	probably damaging	Het
Slc13a5	A	G	11: 72,247,752	I455T	probably damaging	Het
Slc28a3	A	T	13: 58,569,373	Y366*	probably null	Het
Srgap1	T	A	10: 121,869,841	Q226L	probably benign	Het
Syt17	A	G	7: 118,408,156	V362A	probably damaging	Het
Tas2r117	T	C	6: 132,803,411	S171P	probably benign	Het
Tfap2b	A	T	1: 19,219,244	I198F	probably damaging	Het
Tg	A	T	15: 66,683,738	I760F	possibly damaging	Het
Tmem123	T	C	9: 7,790,983	V95A	possibly damaging	Het
Tmem198b	C	A	10: 128,802,517	G59V	probably damaging	Het
Tmem30c	T	G	16: 57,276,222	I179L	probably benign	Het
Tmprss2	A	T	16: 97,568,502	D357E	probably benign	Het
Tns3	G	A	11: 8,451,142	T1052M	possibly damaging	Het
Trex1	A	T	9: 109,058,564	C120S	probably damaging	Het
Ttc8	A	G	12: 98,920,706	S13G	possibly damaging	Het
Ttll7	T	C	3: 146,915,732	I362T	probably damaging	Het
Usp34	A	T	11: 23,364,364	T769S		Het
Vmn1r185	G	T	7: 26,612,014	T22K	probably damaging	Het
Vmn1r39	T	G	6: 66,804,594	M247L	probably benign	Het
Vmn2r96	A	G	17: 18,582,995	D389G	probably benign	Het
Xirp1	C	T	9: 120,017,313	V835I	probably benign	Het
Ylpm1	T	G	12: 84,997,262	I258S	unknown	Het
Zfp971	A	T	2: 178,033,624	S339C	probably damaging	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
R1055:D17Wsu92e	UTSW	17	27767936	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

Predicted Primers

PCR Primer
(F):5'- ACCCACAGCCTAGTTCCTAG -3'
(R):5'- AGAGAATATCCTTCAGAGTGGACTG -3'

Sequencing Primer
(F):5'- TCAAGGATAGCCTGGTCTATAGCC -3'
(R):5'- CAGAGTGGACTGAAATCTCTTGTC -3'

Posted On

2022-09-12