Mutagenetix > Incidental Mutation

Incidental Mutation 'R6359:Eif1ad14'

514198

Institutional Source

Beutler Lab

Gene Symbol

Eif1ad14

Ensembl Gene

ENSMUSG00000096619

Gene Name

eukaryotic translation initiation factor 1A domain containing 14

Synonyms

Gm2035

MMRRC Submission

044509-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.341) question?

Stock #

R6359 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

87886193-87886627 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 87886275 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 118 (T118M)

Ref Sequence

ENSEMBL: ENSMUSP00000137146 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000180053]

AlphaFold

J3QP87

Predicted Effect

probably benign
Transcript: ENSMUST00000180053
AA Change: T118M

PolyPhen 2 Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000137146
Gene: ENSMUSG00000096619
AA Change: T118M

Domain	Start	End	E-Value	Type
low complexity region	3	25	N/A	INTRINSIC
eIF1a	28	110	4.13e-45	SMART
low complexity region	125	144	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.3%

Validation Efficiency

100% (30/30)

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asic5	A	T	3: 81,911,803 (GRCm39)	D133V	possibly damaging	Het
Atp11b	A	G	3: 35,832,210 (GRCm39)	I22V	probably benign	Het
Ccdc18	C	T	5: 108,283,391 (GRCm39)	T34I	probably damaging	Het
Ces2a	A	G	8: 105,462,710 (GRCm39)	I100V	probably benign	Het
Ddi2	T	A	4: 141,411,899 (GRCm39)	T338S	probably damaging	Het
Dync1li1	A	G	9: 114,542,638 (GRCm39)	I267V	probably benign	Het
Fbxo10	A	T	4: 45,041,796 (GRCm39)	V637E	possibly damaging	Het
Gak	T	C	5: 108,719,766 (GRCm39)	E458G	probably damaging	Het
Glp1r	G	T	17: 31,148,946 (GRCm39)	V287F	probably damaging	Het
Gsdmc2	T	C	15: 63,696,866 (GRCm39)	E435G	probably damaging	Het
Hsd11b1	T	A	1: 192,924,660 (GRCm39)		probably benign	Het
Igkv13-84	T	G	6: 68,916,592 (GRCm39)	F3V	probably benign	Het
Igsf9b	C	A	9: 27,220,895 (GRCm39)	A87E	probably benign	Het
Ints1	G	T	5: 139,741,972 (GRCm39)	L1796I	probably benign	Het
Ipo8	A	G	6: 148,678,748 (GRCm39)	L950P	probably benign	Het
Lama5	T	C	2: 179,837,775 (GRCm39)	D931G	probably benign	Het
Lamb1	A	G	12: 31,332,715 (GRCm39)	E327G	probably damaging	Het
Lrp1b	T	C	2: 41,185,608 (GRCm39)	Y1369C	probably damaging	Het
Mapk3	A	G	7: 126,359,928 (GRCm39)	T67A	probably benign	Het
Mrpl4	T	A	9: 20,919,030 (GRCm39)	V225E	probably damaging	Het
Ncln	C	T	10: 81,326,118 (GRCm39)	G278S	probably damaging	Het
Nlrp3	G	A	11: 59,439,392 (GRCm39)	R323Q	probably damaging	Het
Nol8	A	G	13: 49,817,546 (GRCm39)	D774G	probably benign	Het
Or11i1	A	T	3: 106,729,731 (GRCm39)	I48N	probably damaging	Het
Or52p1	T	C	7: 104,267,510 (GRCm39)	V208A	probably damaging	Het
Plekha8	G	T	6: 54,590,104 (GRCm39)	C23F	probably damaging	Het
Prkag1	T	C	15: 98,712,433 (GRCm39)	Y133C	probably damaging	Het
Spata31d1a	A	G	13: 59,850,920 (GRCm39)	S403P	probably benign	Het
Spata31d1c	A	T	13: 65,183,406 (GRCm39)	N316I	possibly damaging	Het
Tmem30c	A	T	16: 57,096,513 (GRCm39)	S203T	probably benign	Het
Ttn	T	G	2: 76,569,300 (GRCm39)	N18871H	possibly damaging	Het

Other mutations in Eif1ad14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02314:Eif1ad14	APN	12	87,886,377 (GRCm39)	missense	probably benign	0.00
IGL02347:Eif1ad14	APN	12	87,886,359 (GRCm39)	missense	probably damaging	1.00
IGL02639:Eif1ad14	APN	12	87,886,269 (GRCm39)	missense	probably benign	0.04
R4230:Eif1ad14	UTSW	12	87,886,567 (GRCm39)	missense	unknown
R5969:Eif1ad14	UTSW	12	87,886,248 (GRCm39)	missense	unknown
R6159:Eif1ad14	UTSW	12	87,886,521 (GRCm39)	missense	probably damaging	1.00
R7181:Eif1ad14	UTSW	12	87,886,492 (GRCm39)	missense	possibly damaging	0.49
R7183:Eif1ad14	UTSW	12	87,886,492 (GRCm39)	missense	possibly damaging	0.49
R7184:Eif1ad14	UTSW	12	87,886,492 (GRCm39)	missense	possibly damaging	0.49
R7653:Eif1ad14	UTSW	12	87,886,248 (GRCm39)	missense	unknown
R8046:Eif1ad14	UTSW	12	87,886,335 (GRCm39)	missense	probably benign	0.02
R8353:Eif1ad14	UTSW	12	87,886,323 (GRCm39)	missense	probably benign
R8453:Eif1ad14	UTSW	12	87,886,323 (GRCm39)	missense	probably benign

Predicted Primers

Posted On

2018-04-27