Mutagenetix > Incidental Mutations

Incidental Mutation 'R4373:3632451O06Rik'

326073

Institutional Source

Beutler Lab

Gene Symbol

3632451O06Rik

Ensembl Gene

ENSMUSG00000036242

Gene Name

RIKEN cDNA 3632451O06 gene

Synonyms

MMRRC Submission

041675-MU

Accession Numbers

NCBI RefSeq: NM_026142.4; MGI:1914669

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4373 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

49675952-49783383 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 49770436 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 527 (T527S)

Ref Sequence

ENSEMBL: ENSMUSP00000113609 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036972] [ENSMUST00000118129]

AlphaFold

Q8BT18

Predicted Effect

probably damaging
Transcript: ENSMUST00000036972
AA Change: T527S

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000036220
Gene: ENSMUSG00000036242
AA Change: T527S

Domain	Start	End	E-Value	Type
Pfam:DUF4696	48	609	3.8e-224	PFAM
transmembrane domain	714	736	N/A	INTRINSIC
low complexity region	741	753	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000118129
AA Change: T527S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113609
Gene: ENSMUSG00000036242
AA Change: T527S

Domain	Start	End	E-Value	Type
coiled coil region	603	644	N/A	INTRINSIC
transmembrane domain	714	736	N/A	INTRINSIC
low complexity region	741	754	N/A	INTRINSIC

Meta Mutation Damage Score

0.3186

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

98% (54/55)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	T	11: 23,615,265		probably null	Het
Adck5	A	G	15: 76,594,335		probably benign	Het
Akr1b3	A	C	6: 34,304,267		probably benign	Het
Asns	A	T	6: 7,677,978	S367T	probably damaging	Het
BC034090	T	C	1: 155,226,158	N120S	probably benign	Het
Bub1	A	T	2: 127,805,236		probably benign	Het
Csf1	T	A	3: 107,756,739	T38S	probably damaging	Het
Ctsz	T	C	2: 174,428,585	E268G	possibly damaging	Het
Dach1	G	A	14: 97,827,750	T685I	possibly damaging	Het
Dclre1a	A	G	19: 56,545,442	L240S	probably benign	Het
Ercc1	G	A	7: 19,347,132		probably benign	Het
Esam	C	T	9: 37,534,196	T71I	probably benign	Het
Espl1	A	G	15: 102,312,989	I944V	probably damaging	Het
Gde1	A	G	7: 118,698,558	L35P	possibly damaging	Het
Gm10382	A	G	5: 125,389,583		probably benign	Het
H2-M10.6	T	C	17: 36,813,066	Y141H	probably damaging	Het
Hk1	C	A	10: 62,315,540	K10N	probably damaging	Het
Lamc3	A	G	2: 31,898,232	K135E	probably damaging	Het
Lrtm2	A	G	6: 119,320,528	F184S	probably damaging	Het
March11	A	G	15: 26,309,446	E62G	probably damaging	Het
Mtcl1	T	A	17: 66,380,079	T611S	probably benign	Het
Myc	A	T	15: 61,989,664	H373L	probably damaging	Het
Myh6	T	A	14: 54,962,108	I249F	probably damaging	Het
Naaa	T	C	5: 92,278,143		probably benign	Het
Nfib	A	G	4: 82,323,658	V432A	probably damaging	Het
Nmt1	A	G	11: 103,043,200	K55R	probably damaging	Het
Olfr1228	T	C	2: 89,249,245	R150G	possibly damaging	Het
Opa3	C	T	7: 19,244,774	R55W	probably damaging	Het
Pfn4	T	A	12: 4,770,182	D10E	probably damaging	Het
Pld5	T	A	1: 176,140,017	I91F	probably damaging	Het
Plec	A	C	15: 76,183,117	S1350A	probably damaging	Het
Polq	G	T	16: 37,013,181	V79F	probably damaging	Het
Ppp1r16b	T	C	2: 158,761,765	Y537H	probably damaging	Het
Prdm8	T	C	5: 98,186,508	S645P	probably damaging	Het
Rgs1	T	C	1: 144,247,906	T94A	probably benign	Het
Rpl11	G	A	4: 136,051,143		probably benign	Het
Scamp3	G	A	3: 89,181,927		probably null	Het
Sgsm1	TTTTATATT	TTT	5: 113,258,123		probably benign	Het
Sirpb1b	A	T	3: 15,548,761	I87K	probably damaging	Het
Slc14a2	G	A	18: 78,207,068	R62C	probably damaging	Het
Stat4	T	C	1: 52,071,941		probably null	Het
Tex9	A	T	9: 72,480,595		probably null	Het
Tsku	T	C	7: 98,352,831	T98A	probably benign	Het
Ttc23l	CT	CTTGGATT	15: 10,537,562		probably benign	Het
Ttc23l	G	A	15: 10,537,566	S206L	probably benign	Het
Vmn2r116	A	C	17: 23,401,421	I710L	probably benign	Het
Vmn2r16	A	T	5: 109,363,801	I625F	probably damaging	Het
Xpo4	G	A	14: 57,591,022	Q794*	probably null	Het
Zfp112	T	A	7: 24,125,048	I147N	probably damaging	Het
Zmiz1	T	C	14: 25,636,010	S140P	probably damaging	Het

Other mutations in 3632451O06Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00470:3632451O06Rik	APN	14	49773003	missense	probably damaging	1.00
IGL00981:3632451O06Rik	APN	14	49772990	missense	probably damaging	1.00
IGL01447:3632451O06Rik	APN	14	49768466	missense	probably damaging	0.99
IGL01645:3632451O06Rik	APN	14	49773554	missense	probably damaging	1.00
IGL02135:3632451O06Rik	APN	14	49773929	missense	probably damaging	0.99
IGL02154:3632451O06Rik	APN	14	49772942	missense	possibly damaging	0.58
IGL02163:3632451O06Rik	APN	14	49774157	missense	possibly damaging	0.61
IGL03234:3632451O06Rik	APN	14	49768516	missense	probably damaging	1.00
P0014:3632451O06Rik	UTSW	14	49751659	missense	probably damaging	1.00
R0165:3632451O06Rik	UTSW	14	49773786	missense	probably benign
R0240:3632451O06Rik	UTSW	14	49768402	splice site	probably benign
R0553:3632451O06Rik	UTSW	14	49682686	missense	probably damaging	0.99
R0616:3632451O06Rik	UTSW	14	49773656	missense	possibly damaging	0.74
R0635:3632451O06Rik	UTSW	14	49773143	missense	probably benign	0.00
R1423:3632451O06Rik	UTSW	14	49751439	missense	probably damaging	1.00
R1547:3632451O06Rik	UTSW	14	49773496	missense	probably benign	0.01
R1642:3632451O06Rik	UTSW	14	49768410	splice site	probably null
R1657:3632451O06Rik	UTSW	14	49773560	missense	probably damaging	0.99
R1717:3632451O06Rik	UTSW	14	49751664	missense	probably damaging	0.99
R1875:3632451O06Rik	UTSW	14	49682358	missense	probably damaging	1.00
R1900:3632451O06Rik	UTSW	14	49770583	missense	probably damaging	1.00
R1916:3632451O06Rik	UTSW	14	49768475	missense	probably damaging	1.00
R1945:3632451O06Rik	UTSW	14	49768483	missense	probably damaging	1.00
R2102:3632451O06Rik	UTSW	14	49774002	missense	probably damaging	0.98
R2147:3632451O06Rik	UTSW	14	49751571	missense	probably benign	0.31
R2149:3632451O06Rik	UTSW	14	49751571	missense	probably benign	0.31
R3921:3632451O06Rik	UTSW	14	49774202	missense	probably benign	0.13
R4063:3632451O06Rik	UTSW	14	49773987	missense	probably benign	0.02
R4374:3632451O06Rik	UTSW	14	49770436	missense	probably damaging	1.00
R4377:3632451O06Rik	UTSW	14	49770436	missense	probably damaging	1.00
R4589:3632451O06Rik	UTSW	14	49773582	missense	probably damaging	1.00
R4940:3632451O06Rik	UTSW	14	49773482	missense	probably benign	0.15
R4986:3632451O06Rik	UTSW	14	49751654	missense	probably damaging	0.97
R5047:3632451O06Rik	UTSW	14	49770438	missense	probably damaging	1.00
R5104:3632451O06Rik	UTSW	14	49773472	missense	possibly damaging	0.77
R5682:3632451O06Rik	UTSW	14	49751586	missense	probably damaging	1.00
R6357:3632451O06Rik	UTSW	14	49773312	missense	probably benign	0.10
R6478:3632451O06Rik	UTSW	14	49773332	missense	possibly damaging	0.61
R6673:3632451O06Rik	UTSW	14	49770592	missense	probably benign	0.00
R7035:3632451O06Rik	UTSW	14	49773050	missense	possibly damaging	0.77
R7054:3632451O06Rik	UTSW	14	49773698	missense	probably damaging	1.00
R7458:3632451O06Rik	UTSW	14	49682739	missense	probably damaging	1.00
R7536:3632451O06Rik	UTSW	14	49774246	splice site	probably null
R7944:3632451O06Rik	UTSW	14	49773213	missense	probably benign	0.25
R7945:3632451O06Rik	UTSW	14	49773213	missense	probably benign	0.25
R8049:3632451O06Rik	UTSW	14	49773536	missense	probably damaging	0.97
R8066:3632451O06Rik	UTSW	14	49768523	missense	possibly damaging	0.83
R8519:3632451O06Rik	UTSW	14	49773236	missense	probably damaging	1.00
R8765:3632451O06Rik	UTSW	14	49682643	missense	probably damaging	1.00
R8766:3632451O06Rik	UTSW	14	49774040	missense	probably damaging	1.00
R8833:3632451O06Rik	UTSW	14	49773861	missense	probably benign	0.17
R8936:3632451O06Rik	UTSW	14	49770567	missense	probably damaging	0.98
R9007:3632451O06Rik	UTSW	14	49774238	missense	probably damaging	0.99
R9122:3632451O06Rik	UTSW	14	49774002	missense	possibly damaging	0.64
R9406:3632451O06Rik	UTSW	14	49773488	missense	possibly damaging	0.93
X0026:3632451O06Rik	UTSW	14	49682736	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCAGGTAGGGAACATGTGTG -3'
(R):5'- CTAGTCTCTGAAAGAGCTGGCTG -3'

Sequencing Primer
(F):5'- AACATGTGTGTGCTGGTGAAAG -3'
(R):5'- TCCTTTTCAGACATCACTCAAGAG -3'

Posted On

2015-07-06