Mutagenetix > Incidental Mutation

Incidental Mutation 'R0446:Gm14124'

39354

Institutional Source

Beutler Lab

Gene Symbol

Gm14124

Ensembl Gene

ENSMUSG00000079008

Gene Name

predicted gene 14124

Synonyms

MMRRC Submission

038647-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R0446 (G1)

Quality Score

219

Status

Not validated

Chromosome

Chromosomal Location

150257517-150270300 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 150268073 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 228 (T228A)

Ref Sequence

ENSEMBL: ENSMUSP00000105548 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109922]

AlphaFold

A2AU83

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109922
AA Change: T228A

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000105548
Gene: ENSMUSG00000079008
AA Change: T228A

Domain	Start	End	E-Value	Type
KRAB	4	66	9.26e-19	SMART
ZnF_C2H2	103	125	7.49e-5	SMART
ZnF_C2H2	131	151	9.46e0	SMART
ZnF_C2H2	159	181	5.9e-3	SMART
ZnF_C2H2	187	209	6.67e-2	SMART
ZnF_C2H2	215	237	4.87e-4	SMART
ZnF_C2H2	243	265	2.82e0	SMART
ZnF_C2H2	271	293	2.2e2	SMART
ZnF_C2H2	299	321	1.4e-4	SMART
ZnF_C2H2	327	349	1.6e-4	SMART
ZnF_C2H2	355	377	1.18e-2	SMART
ZnF_C2H2	383	405	1.38e-3	SMART
ZnF_C2H2	411	433	9.56e1	SMART
ZnF_C2H2	439	461	6.99e-5	SMART
ZnF_C2H2	467	489	2.99e-4	SMART
ZnF_C2H2	495	517	7.78e-3	SMART
ZnF_C2H2	523	545	1.04e-3	SMART
ZnF_C2H2	551	573	1.6e-4	SMART
ZnF_C2H2	579	601	1.18e-2	SMART
ZnF_C2H2	607	629	4.54e-4	SMART
ZnF_C2H2	635	657	4.24e-4	SMART
ZnF_C2H2	663	685	1.2e-3	SMART
ZnF_C2H2	691	713	8.47e-4	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110051M20Rik	G	A	2: 91,304,764	T20I	possibly damaging	Het
4930435E12Rik	G	A	16: 38,828,702	T15I	probably benign	Het
4933434E20Rik	A	G	3: 90,064,459	T42A	probably benign	Het
Actr3b	T	A	5: 25,831,732	I181K	probably damaging	Het
Avl9	G	T	6: 56,736,483	R242L	probably benign	Het
B3galt4	T	C	17: 33,951,018	E82G	probably benign	Het
Bag1	G	A	4: 40,936,609	T349I	probably benign	Het
Brip1	A	T	11: 86,157,601	L305Q	probably damaging	Het
Cdipt	A	G	7: 126,978,264	T61A	probably damaging	Het
Cmya5	T	A	13: 93,093,656	R1641S	probably benign	Het
Cog7	T	C	7: 121,937,072	D515G	probably benign	Het
Cpsf4	T	A	5: 145,177,244	L171Q	probably damaging	Het
Cuzd1	A	T	7: 131,316,280		probably null	Het
Dapk1	T	A	13: 60,725,287		probably null	Het
Diaph1	A	G	18: 37,853,590	V1114A	possibly damaging	Het
Emx2	A	T	19: 59,463,916	K211*	probably null	Het
Fam160b1	G	A	19: 57,381,407	D461N	probably benign	Het
Fam170a	T	A	18: 50,280,632	C55S	possibly damaging	Het
Fbxw26	A	G	9: 109,743,720	S119P	probably benign	Het
Fryl	G	A	5: 73,097,417	T894M	possibly damaging	Het
Gad1-ps	C	A	10: 99,445,521		noncoding transcript	Het
Gss	T	C	2: 155,567,745	E257G	probably benign	Het
Klhdc1	A	C	12: 69,283,308	S404R	probably benign	Het
Kmt2e	T	A	5: 23,497,534		probably null	Het
Krt20	G	A	11: 99,437,776	Q108*	probably null	Het
Lmnb1	T	A	18: 56,743,259	S480T	probably benign	Het
Lyst	T	A	13: 13,638,048	M1015K	probably benign	Het
Mdm1	T	G	10: 118,152,056	S290A	probably benign	Het
Mkln1	T	A	6: 31,449,504	F238I	probably damaging	Het
Mrgprb3	A	G	7: 48,643,236	V189A	probably benign	Het
Myrf	G	C	19: 10,218,162	T428S	probably benign	Het
Naip2	A	C	13: 100,161,782	I582S	probably benign	Het
Neurod6	C	T	6: 55,679,629	E8K	probably benign	Het
Nlrp12	T	C	7: 3,234,029	I747V	probably benign	Het
Notch4	C	T	17: 34,565,363	R43W	possibly damaging	Het
Obscn	A	T	11: 58,995,412		probably benign	Het
Olfr1153	T	C	2: 87,896,855	Y219H	possibly damaging	Het
Olfr1346	T	C	7: 6,475,025	V305A	probably benign	Het
Olfr480	A	T	7: 108,066,725	Y24*	probably null	Het
Olfr522	A	T	7: 140,162,471	S160T	probably damaging	Het
Olfr920	G	T	9: 38,755,818	L43F	probably damaging	Het
Olfr958	A	T	9: 39,550,451	I140N	probably damaging	Het
Orc5	C	T	5: 22,546,457	V85I	probably benign	Het
Pccb	T	C	9: 100,982,797	D468G	probably damaging	Het
Pdzd2	A	T	15: 12,375,024	V1675E	probably benign	Het
Pkd1l3	C	G	8: 109,623,649	D375E	possibly damaging	Het
Pltp	A	T	2: 164,854,400	N97K	probably damaging	Het
Polr1a	T	C	6: 71,950,664		probably null	Het
Prss42	G	A	9: 110,799,273	V162I	possibly damaging	Het
Rbfox2	A	T	15: 77,099,255	Y269N	probably damaging	Het
Rftn2	A	T	1: 55,214,195	I83K	probably damaging	Het
S1pr4	A	T	10: 81,498,989	I217N	probably damaging	Het
Slc23a2	T	C	2: 132,078,433	K184R	probably benign	Het
Slc6a19	T	C	13: 73,691,695	N156S	probably benign	Het
Svep1	C	T	4: 58,088,280	G1723D	probably damaging	Het
Tbc1d32	T	A	10: 56,192,898	H358L	possibly damaging	Het
Tigit	G	T	16: 43,662,271	N33K	probably damaging	Het
Tmem25	T	C	9: 44,796,581	Y139C	probably damaging	Het
Trmt13	G	A	3: 116,582,626	T372M	probably damaging	Het
Ubr2	A	T	17: 46,983,298	M303K	probably damaging	Het
Usp34	A	G	11: 23,467,207	E2952G	probably damaging	Het
Zan	T	A	5: 137,391,658	I4851F	unknown	Het
Zfand4	C	T	6: 116,288,054	T160I	probably benign	Het

Other mutations in Gm14124

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01550:Gm14124	APN	2	150266443	splice site	probably benign
R0220:Gm14124	UTSW	2	150268675	missense	unknown
R0396:Gm14124	UTSW	2	150268053	missense	probably damaging	1.00
R0402:Gm14124	UTSW	2	150269216	missense	possibly damaging	0.93
R0462:Gm14124	UTSW	2	150269202	missense	possibly damaging	0.80
R0507:Gm14124	UTSW	2	150268124	missense	possibly damaging	0.69
R0605:Gm14124	UTSW	2	150268603	missense	unknown
R0838:Gm14124	UTSW	2	150269300	missense	possibly damaging	0.74
R1327:Gm14124	UTSW	2	150266150	missense	possibly damaging	0.71
R1405:Gm14124	UTSW	2	150267700	nonsense	probably null
R1405:Gm14124	UTSW	2	150267700	nonsense	probably null
R2114:Gm14124	UTSW	2	150267899	missense	unknown
R2140:Gm14124	UTSW	2	150269361	missense	probably benign	0.33
R3683:Gm14124	UTSW	2	150268056	missense	probably benign	0.41
R3917:Gm14124	UTSW	2	150266119	splice site	probably benign
R4084:Gm14124	UTSW	2	150266202	missense	possibly damaging	0.85
R4499:Gm14124	UTSW	2	150269442	missense	possibly damaging	0.93
R4683:Gm14124	UTSW	2	150266470	missense	possibly damaging	0.53
R4762:Gm14124	UTSW	2	150267629	missense	possibly damaging	0.53
R4937:Gm14124	UTSW	2	150268760	missense	unknown
R5678:Gm14124	UTSW	2	150268505	nonsense	probably null
R5696:Gm14124	UTSW	2	150269474	missense	possibly damaging	0.52
R5697:Gm14124	UTSW	2	150269474	missense	possibly damaging	0.52
R5698:Gm14124	UTSW	2	150269474	missense	possibly damaging	0.52
R5769:Gm14124	UTSW	2	150268278	missense	possibly damaging	0.87
R5780:Gm14124	UTSW	2	150266219	missense	probably benign	0.05
R5973:Gm14124	UTSW	2	150267935	missense	unknown
R6662:Gm14124	UTSW	2	150266252	critical splice donor site	probably null
R6878:Gm14124	UTSW	2	150266486	missense	possibly damaging	0.86
R7037:Gm14124	UTSW	2	150266456	missense	possibly damaging	0.86
R7081:Gm14124	UTSW	2	150268269	missense	possibly damaging	0.66
R7413:Gm14124	UTSW	2	150266161	missense	possibly damaging	0.93
R7725:Gm14124	UTSW	2	150268548	missense	unknown
R7781:Gm14124	UTSW	2	150267657	missense	possibly damaging	0.53
R8197:Gm14124	UTSW	2	150267657	missense	possibly damaging	0.53
R8355:Gm14124	UTSW	2	150267956	missense	unknown
R8517:Gm14124	UTSW	2	150268123	missense	probably benign	0.33
R8812:Gm14124	UTSW	2	150267704	missense	possibly damaging	0.83
R9108:Gm14124	UTSW	2	150268049	missense	possibly damaging	0.61
R9488:Gm14124	UTSW	2	150268557	missense	unknown
R9499:Gm14124	UTSW	2	150267936	missense	unknown
R9551:Gm14124	UTSW	2	150267936	missense	unknown
R9567:Gm14124	UTSW	2	150267597	missense	possibly damaging	0.53
R9646:Gm14124	UTSW	2	150268184	missense	probably benign	0.43
R9709:Gm14124	UTSW	2	150268385	missense	possibly damaging	0.47
R9719:Gm14124	UTSW	2	150269384	missense	possibly damaging	0.74
R9779:Gm14124	UTSW	2	150266144	missense	possibly damaging	0.92
X0022:Gm14124	UTSW	2	150267658	missense	possibly damaging	0.53
Z1177:Gm14124	UTSW	2	150268317	missense	possibly damaging	0.84
Z1177:Gm14124	UTSW	2	150268324	missense	possibly damaging	0.94

Predicted Primers

Posted On

2013-05-23