Mutagenetix > Incidental Mutation

Incidental Mutation 'R5907:AI182371'

460679

Institutional Source

Beutler Lab

Gene Symbol

AI182371

Ensembl Gene

ENSMUSG00000035875

Gene Name

expressed sequence AI182371

Synonyms

MMRRC Submission

044104-MU

Accession Numbers

Genbank: NM_178885; MGI: 2138853

Essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R5907 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

35081861-35101543 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 35086122 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 255 (Q255K)

Ref Sequence

ENSEMBL: ENSMUSP00000154033 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045776] [ENSMUST00000134940] [ENSMUST00000226375] [ENSMUST00000226631] [ENSMUST00000226972]

AlphaFold

A2AS37

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045776
AA Change: Q245K

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000037754
Gene: ENSMUSG00000035875
AA Change: Q245K

Domain	Start	End	E-Value	Type
Pfam:A2M_N	133	227	4.7e-19	PFAM
ANATO	284	318	1.97e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000134940

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151161

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154817

Predicted Effect

probably benign
Transcript: ENSMUST00000226375

Predicted Effect

possibly damaging
Transcript: ENSMUST00000226631
AA Change: Q256K

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000226972
AA Change: Q255K

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.9%
20x: 93.7%

Validation Efficiency

93% (92/99)

Allele List at MGI

All alleles(1) : Targeted, other(1)

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921501E09Rik	G	T	17: 33,066,150	D559E	probably benign	Het
4931429L15Rik	A	T	9: 46,306,822	I206N	probably damaging	Het
Aadac	T	A	3: 60,039,827	D315E	probably damaging	Het
Abcc8	A	G	7: 46,123,906	F800L	probably benign	Het
Adamts16	C	A	13: 70,728,910	C1204F	probably damaging	Het
Adcy7	A	G	8: 88,312,228	T291A	possibly damaging	Het
Aig1	A	T	10: 13,801,784		probably benign	Het
Ak5	T	C	3: 152,615,952	D266G	probably damaging	Het
Ank1	A	T	8: 23,140,204	E93D	probably damaging	Het
Bop1	T	C	15: 76,455,917	D153G	probably damaging	Het
Bub1	G	T	2: 127,819,222	N316K	probably benign	Het
Capn1	T	C	19: 5,997,797	N412S	probably benign	Het
Cdca4	A	G	12: 112,821,719	S130P	probably benign	Het
Cdh23	A	T	10: 60,428,379	D663E	probably damaging	Het
Clca3a1	T	C	3: 144,749,642		probably benign	Het
Csmd2	C	T	4: 128,197,385	P239L	probably damaging	Het
Dlg2	A	T	7: 91,997,371		probably benign	Het
Dnpep	C	T	1: 75,311,991		probably null	Het
Dopey2	A	T	16: 93,801,581	H1878L	probably damaging	Het
Dscam	C	T	16: 96,820,920	D444N	probably damaging	Het
Emc9	C	T	14: 55,582,112		probably null	Het
Ero1lb	T	A	13: 12,600,318	I346N	probably damaging	Het
Etv3	A	G	3: 87,535,543	T145A	probably benign	Het
Fam170a	T	A	18: 50,282,254		probably null	Het
Fap	A	T	2: 62,544,356	I261N	probably damaging	Het
Fbn2	T	C	18: 58,045,337	N1943S	probably damaging	Het
Glb1l3	A	T	9: 26,826,383	V466E	probably damaging	Het
Gm10521	A	T	1: 171,896,503	H127L	unknown	Het
Gm8186	G	T	17: 26,099,156	N22K	probably damaging	Het
Gpr132	A	C	12: 112,852,097	L370V	probably benign	Het
Hectd1	A	T	12: 51,798,754	H449Q	probably damaging	Het
Hook3	A	G	8: 26,044,278		probably benign	Het
Ift140	A	G	17: 25,092,371	D1180G	probably benign	Het
Isoc2b	A	T	7: 4,849,578		probably null	Het
Itga4	C	T	2: 79,322,656	H896Y	probably benign	Het
Itga7	T	C	10: 128,942,981	Y326H	probably damaging	Het
Itpr3	A	T	17: 27,117,893	E2397V	probably damaging	Het
Jtb	T	G	3: 90,235,577		probably null	Het
Klk15	A	G	7: 43,938,759	T164A	probably benign	Het
Kmt2e	C	A	5: 23,464,706	H64N	probably damaging	Het
Lamtor3	T	A	3: 137,927,293		probably benign	Het
Laptm4b	A	G	15: 34,258,684	I35V	possibly damaging	Het
Lrrc1	A	C	9: 77,434,097	L393R	probably damaging	Het
Ltn1	A	G	16: 87,381,503	S1613P	possibly damaging	Het
Mtmr4	T	A	11: 87,612,050	W920R	probably damaging	Het
Nbeal1	T	C	1: 60,228,791		probably benign	Het
Nup133	A	G	8: 123,916,299	Y761H	possibly damaging	Het
Nwd2	T	A	5: 63,805,983	V970D	probably damaging	Het
Olfr1058	A	T	2: 86,385,874	S181R	probably damaging	Het
Olfr1261	A	G	2: 89,993,957	H188R	probably benign	Het
Olfr429	T	C	1: 174,089,219	Y60H	probably benign	Het
Osbp	C	T	19: 11,973,876	L262F	probably damaging	Het
Phldb2	G	T	16: 45,825,188	D343E	probably damaging	Het
Phrf1	T	A	7: 141,260,540	M1216K	possibly damaging	Het
Phyh	A	T	2: 4,930,651		probably null	Het
Plekhf1	A	T	7: 38,222,170		probably null	Het
Rars	T	C	11: 35,828,648	N116D	probably damaging	Het
Rnf44	T	A	13: 54,682,808	Q181L	possibly damaging	Het
Rpe65	T	C	3: 159,615,682		probably null	Het
Scaf1	A	G	7: 45,013,592		probably benign	Het
Serpinb11	A	T	1: 107,372,189	R88S	probably benign	Het
Slc7a7	T	C	14: 54,379,103	N174S	probably damaging	Het
Slc9a5	T	C	8: 105,357,175		probably null	Het
Slfn1	C	A	11: 83,121,176	N39K	possibly damaging	Het
Snx20	G	A	8: 88,627,295	A269V	possibly damaging	Het
Snx6	A	G	12: 54,754,319	Y298H	probably damaging	Het
Stk32c	C	T	7: 139,120,674	R213Q	probably benign	Het
Tgfbr1	A	T	4: 47,396,555	I190F	probably damaging	Het
Ube2d2b	T	A	5: 107,830,632	F50I	probably damaging	Het
Ubl5	G	A	9: 20,646,534		probably benign	Het
Ubqln5	T	G	7: 104,128,574	T348P	possibly damaging	Het
Usp46	T	C	5: 74,037,085	D22G	probably benign	Het
Vars	A	G	17: 35,012,376	N655S	probably damaging	Het
Vmn2r103	A	C	17: 19,812,453	I830L	possibly damaging	Het
Vmn2r26	T	A	6: 124,039,871	N431K	probably benign	Het
Vmn2r4	G	T	3: 64,391,066	P547Q	probably damaging	Het
Yy1	T	A	12: 108,806,428		probably benign	Het
Zbtb2	A	T	10: 4,368,592	L478Q	possibly damaging	Het
Zfp12	T	C	5: 143,239,988	F17S	probably damaging	Het
Zfp219	T	A	14: 52,007,149		probably null	Het
Zfp629	G	A	7: 127,610,370	H756Y	probably damaging	Het
Zfp748	T	C	13: 67,541,173	K656R	possibly damaging	Het
Zfp958	T	A	8: 4,629,072	Y366N	probably benign	Het
Zp3	C	T	5: 135,988,523	T396I	probably benign	Het

Other mutations in AI182371

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02338:AI182371	APN	2	35085716	missense	probably benign	0.02
IGL02344:AI182371	APN	2	35089186	missense	probably benign	0.01
IGL02817:AI182371	APN	2	35100649	missense	probably damaging	0.99
IGL02961:AI182371	APN	2	35086112	missense	possibly damaging	0.53
3-1:AI182371	UTSW	2	35100607	missense	probably damaging	0.99
R0041:AI182371	UTSW	2	35085721	missense	possibly damaging	0.79
R0084:AI182371	UTSW	2	35085702	critical splice donor site	probably null
R0472:AI182371	UTSW	2	35085206	missense	probably benign	0.35
R1539:AI182371	UTSW	2	35088803	missense	probably damaging	0.98
R1634:AI182371	UTSW	2	35086485	missense	probably damaging	1.00
R1635:AI182371	UTSW	2	35088737	splice site	probably null
R1898:AI182371	UTSW	2	35100649	missense	probably damaging	0.99
R2065:AI182371	UTSW	2	35086429	critical splice donor site	probably null
R2155:AI182371	UTSW	2	35085354	missense	probably benign	0.00
R3694:AI182371	UTSW	2	35085752	missense	probably benign	0.00
R3900:AI182371	UTSW	2	35085216	missense	probably benign	0.01
R4766:AI182371	UTSW	2	35095817	missense	possibly damaging	0.78
R5071:AI182371	UTSW	2	35085215	missense	probably benign	0.17
R5500:AI182371	UTSW	2	35100638	missense	probably damaging	0.99
R6146:AI182371	UTSW	2	35097971	missense	probably damaging	1.00
R6333:AI182371	UTSW	2	35085269	missense	probably damaging	0.99
R6729:AI182371	UTSW	2	35084705	intron	probably benign
R6732:AI182371	UTSW	2	35084705	intron	probably benign
R6742:AI182371	UTSW	2	35084705	intron	probably benign
R6781:AI182371	UTSW	2	35084705	intron	probably benign
R7196:AI182371	UTSW	2	35086429	critical splice donor site	probably null
R7381:AI182371	UTSW	2	35085359	missense	probably damaging	1.00
R7458:AI182371	UTSW	2	35086504	missense	possibly damaging	0.95
R7466:AI182371	UTSW	2	35088741	nonsense	probably null
R8832:AI182371	UTSW	2	35095897	missense	unknown
R8933:AI182371	UTSW	2	35085702	critical splice donor site	probably null
R8942:AI182371	UTSW	2	35100610	missense	probably damaging	1.00
R8944:AI182371	UTSW	2	35100610	missense	probably damaging	1.00
R9690:AI182371	UTSW	2	35100588	missense	probably benign	0.19
RF009:AI182371	UTSW	2	35089197	missense	possibly damaging	0.90
Z1177:AI182371	UTSW	2	35095759	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- CATAAGCCTAGAAAGGTCTCAGGAAAC -3'
(R):5'- ACTCCTCAGTGCAGATGGTG -3'

Sequencing Primer
(F):5'- AGGTCTCAGGAAACCAGGCTC -3'
(R):5'- CCTGCCAGGGTTATGGGAAG -3'

Posted On

2017-02-28