Mutagenetix > Incidental Mutation

Incidental Mutation 'R0357:AI837181'

29914

Institutional Source

Beutler Lab

Gene Symbol

AI837181

Ensembl Gene

ENSMUSG00000047423

Gene Name

expressed sequence AI837181

Synonyms

MMRRC Submission

038563-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0357 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

5425157-5427313 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 5426703 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 298 (T298I)

Ref Sequence

ENSEMBL: ENSMUSP00000125651 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025853] [ENSMUST00000113673] [ENSMUST00000113674] [ENSMUST00000159759] [ENSMUST00000136579] [ENSMUST00000148219]

AlphaFold

Q8VD62

Predicted Effect

probably benign
Transcript: ENSMUST00000025853

SMART Domains

Protein: ENSMUSP00000025853
Gene: ENSMUSG00000024914

Domain	Start	End	E-Value	Type
Pfam:Histone	4	76	2.1e-8	PFAM
Pfam:CBFD_NFYB_HMF	10	74	1e-20	PFAM
low complexity region	103	123	N/A	INTRINSIC
low complexity region	134	155	N/A	INTRINSIC
low complexity region	172	194	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000054477

Predicted Effect

probably benign
Transcript: ENSMUST00000113673

SMART Domains

Protein: ENSMUSP00000109303
Gene: ENSMUSG00000024914

Domain	Start	End	E-Value	Type
Pfam:CBFD_NFYB_HMF	1	54	6.7e-14	PFAM
Pfam:Histone	1	56	1.8e-6	PFAM
low complexity region	83	103	N/A	INTRINSIC
low complexity region	114	135	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113674

SMART Domains

Protein: ENSMUSP00000109304
Gene: ENSMUSG00000024914

Domain	Start	End	E-Value	Type
Pfam:CBFD_NFYB_HMF	10	74	5e-22	PFAM
low complexity region	114	130	N/A	INTRINSIC
low complexity region	141	162	N/A	INTRINSIC
low complexity region	179	201	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124478

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125468

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126908

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127043

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128542

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134697

Predicted Effect

possibly damaging
Transcript: ENSMUST00000159759
AA Change: T298I

PolyPhen 2 Score 0.486 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000125651
Gene: ENSMUSG00000047423
AA Change: T298I

Domain	Start	End	E-Value	Type
low complexity region	2	25	N/A	INTRINSIC
low complexity region	44	64	N/A	INTRINSIC
low complexity region	69	82	N/A	INTRINSIC
Pfam:DUF1917	139	259	6.1e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000136579

SMART Domains

Protein: ENSMUSP00000133692
Gene: ENSMUSG00000024914

Domain	Start	End	E-Value	Type
Pfam:CBFD_NFYB_HMF	1	54	8.7e-14	PFAM
Pfam:Histone	1	56	2.3e-6	PFAM
low complexity region	83	103	N/A	INTRINSIC
low complexity region	114	135	N/A	INTRINSIC
low complexity region	152	174	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000148219

SMART Domains

Protein: ENSMUSP00000121162
Gene: ENSMUSG00000024914

Domain	Start	End	E-Value	Type
Pfam:Histone	4	76	9.4e-10	PFAM
Pfam:CBFD_NFYB_HMF	10	74	4.5e-22	PFAM
low complexity region	103	123	N/A	INTRINSIC
low complexity region	134	155	N/A	INTRINSIC

Meta Mutation Damage Score

0.2118

Coding Region Coverage

1x: 99.0%
3x: 97.9%
10x: 95.3%
20x: 89.3%

Validation Efficiency

99% (74/75)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110002H16Rik	T	C	18: 12,179,209	S169P	possibly damaging	Het
4930402H24Rik	A	T	2: 130,712,946		probably benign	Het
4931428F04Rik	A	T	8: 105,285,067	V222E	probably damaging	Het
4932431P20Rik	A	T	7: 29,535,582		noncoding transcript	Het
9230019H11Rik	A	T	10: 3,120,307		noncoding transcript	Het
9230019H11Rik	A	G	10: 3,125,788		noncoding transcript	Het
Abcf2	T	C	5: 24,573,465	K232E	probably benign	Het
Alox12	T	C	11: 70,242,536	Y614C	probably damaging	Het
Amn	A	T	12: 111,274,141		probably null	Het
Ankrd33b	A	G	15: 31,305,126	S121P	probably benign	Het
Aox1	A	G	1: 58,092,516	Y1028C	probably damaging	Het
Asph	C	A	4: 9,453,314	R736L	probably benign	Het
Atp2a3	G	A	11: 72,970,931		probably null	Het
Cables2	T	C	2: 180,262,232		probably benign	Het
Catsperg2	A	T	7: 29,714,901	Y360N	possibly damaging	Het
Ccdc129	T	A	6: 55,968,034	M580K	probably benign	Het
Cd163l1	T	G	7: 140,227,895	C660G	probably damaging	Het
Cdh4	T	C	2: 179,847,340	S282P	probably damaging	Het
Col5a3	C	T	9: 20,807,768		probably benign	Het
Ctso	A	T	3: 81,951,543		probably benign	Het
Cyp4f13	A	T	17: 32,932,651	Y125*	probably null	Het
Dapk1	T	A	13: 60,729,558	L537*	probably null	Het
Ddit4l	G	A	3: 137,626,185	R104Q	probably benign	Het
Def6	C	T	17: 28,223,935	H322Y	probably damaging	Het
Dnah6	T	C	6: 73,188,359	N588D	probably benign	Het
Dzip1	T	A	14: 118,909,538	I320F	probably damaging	Het
Epb41l5	T	C	1: 119,609,204	H319R	probably damaging	Het
Erc2	A	G	14: 27,777,022	E285G	probably damaging	Het
Fam109b	C	T	15: 82,343,316	A12V	probably damaging	Het
Fat4	G	A	3: 38,891,227	G1423E	probably damaging	Het
Foxp2	C	T	6: 15,409,840	P480S	probably damaging	Het
Gadd45gip1	G	A	8: 84,834,133	A126T	probably damaging	Het
Gbp5	G	A	3: 142,505,411	D301N	probably benign	Het
Gm10360	T	C	6: 70,424,313		noncoding transcript	Het
Gm6471	T	A	7: 142,833,867		noncoding transcript	Het
Gm8674	T	A	13: 49,902,113		noncoding transcript	Het
Hist2h2bb	A	C	3: 96,269,788	K13Q	probably null	Het
Ift172	A	G	5: 31,257,900	S1322P	possibly damaging	Het
Ift80	A	T	3: 68,914,653	Y686*	probably null	Het
Insrr	A	C	3: 87,808,646		probably null	Het
Krt83	C	T	15: 101,487,019	V399M	probably benign	Het
Macf1	T	C	4: 123,457,983	N3708S	probably damaging	Het
Mogat1	T	C	1: 78,512,040	S27P	probably benign	Het
Mrgpra4	A	T	7: 47,981,826	M9K	probably benign	Het
Mtus1	A	T	8: 41,083,526	S384R	possibly damaging	Het
Myo1a	T	A	10: 127,710,902	M306K	probably benign	Het
Noxa1	G	T	2: 25,085,850	D403E	probably damaging	Het
Ogdhl	T	C	14: 32,346,458	V884A	possibly damaging	Het
Olfr1335	A	C	4: 118,809,417	L149R	probably damaging	Het
Olfr1392	A	G	11: 49,293,786	N155S	probably damaging	Het
Olfr424	T	A	1: 174,137,299	L185*	probably null	Het
Olfr429	T	C	1: 174,089,109	V23A	possibly damaging	Het
Paxip1	G	A	5: 27,758,623		probably benign	Het
Paxx	T	A	2: 25,460,067	E145D	probably damaging	Het
Pde4d	T	C	13: 109,951,268	V560A	possibly damaging	Het
Plxnd1	C	T	6: 115,969,460	V847M	probably benign	Het
Polk	T	A	13: 96,504,597	M151L	probably damaging	Het
Ptprq	C	T	10: 107,686,199		probably benign	Het
Pum2	A	G	12: 8,721,785	Q371R	possibly damaging	Het
Reln	G	A	5: 21,950,822	A2224V	probably damaging	Het
Shroom1	A	G	11: 53,465,208	T362A	probably damaging	Het
Smarcd2	A	G	11: 106,267,332		probably null	Het
Spg11	A	C	2: 122,066,232		probably benign	Het
Tcaf3	T	A	6: 42,589,827	Y776F	probably damaging	Het
Thada	A	G	17: 84,230,936	V1548A	probably damaging	Het
Trpv2	C	T	11: 62,590,304	P410S	probably damaging	Het
Ube2u	G	T	4: 100,481,654	E39*	probably null	Het
Vmn2r2	C	T	3: 64,133,899		probably null	Het
Vmn2r24	TCC	TC	6: 123,815,410		probably null	Het
Zfp110	A	G	7: 12,836,375	Y43C	probably damaging	Het
Zfp605	A	G	5: 110,124,379	T55A	probably benign	Het

Other mutations in AI837181

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
FR4548:AI837181	UTSW	19	5425231	small insertion	probably benign
FR4548:AI837181	UTSW	19	5425237	small insertion	probably benign
FR4976:AI837181	UTSW	19	5425229	small insertion	probably benign
R1944:AI837181	UTSW	19	5426229	missense	probably damaging	0.96
R4846:AI837181	UTSW	19	5426301	missense	probably benign	0.23
R7269:AI837181	UTSW	19	5426434	missense	probably damaging	1.00
R7561:AI837181	UTSW	19	5426463	missense	probably damaging	1.00
R7761:AI837181	UTSW	19	5426291	missense	probably benign	0.03
R9057:AI837181	UTSW	19	5426702	missense	probably damaging	0.98
RF002:AI837181	UTSW	19	5425234	small insertion	probably benign
RF002:AI837181	UTSW	19	5425235	small insertion	probably benign
RF008:AI837181	UTSW	19	5425238	small insertion	probably benign
RF009:AI837181	UTSW	19	5425234	small insertion	probably benign
RF011:AI837181	UTSW	19	5425236	small insertion	probably benign
RF012:AI837181	UTSW	19	5425227	small insertion	probably benign
RF013:AI837181	UTSW	19	5425232	small insertion	probably benign
RF021:AI837181	UTSW	19	5425234	small insertion	probably benign
RF025:AI837181	UTSW	19	5425226	small insertion	probably benign
RF026:AI837181	UTSW	19	5425224	small insertion	probably benign
RF030:AI837181	UTSW	19	5425226	small insertion	probably benign
RF030:AI837181	UTSW	19	5425235	small insertion	probably benign
RF031:AI837181	UTSW	19	5425218	small insertion	probably benign
RF033:AI837181	UTSW	19	5425224	small insertion	probably benign
RF033:AI837181	UTSW	19	5425237	small insertion	probably benign
RF035:AI837181	UTSW	19	5425238	small insertion	probably benign
RF038:AI837181	UTSW	19	5425226	small insertion	probably benign
RF038:AI837181	UTSW	19	5425236	small insertion	probably benign
RF041:AI837181	UTSW	19	5425229	small insertion	probably benign
RF042:AI837181	UTSW	19	5425217	small insertion	probably benign
RF042:AI837181	UTSW	19	5425237	small insertion	probably benign
RF045:AI837181	UTSW	19	5425218	small insertion	probably benign

Predicted Primers

PCR Primer
(F):5'- ATTCACCTGTCACCTGGCTTCAAG -3'
(R):5'- AGTTGGCCCTGCACAAAGAGAG -3'

Sequencing Primer
(F):5'- GAAGCAGATTCTGCCATTCG -3'
(R):5'- CCTGCACAAAGAGAGCAGAAG -3'

Posted On

2013-04-24