Mutagenetix > Incidental Mutation

Incidental Mutation 'R1602:Eif1ad16'

176222

Institutional Source

Beutler Lab

Gene Symbol

Eif1ad16

Ensembl Gene

ENSMUSG00000096803

Gene Name

eukaryotic translation initiation factor 1A domain containing 16

Synonyms

Gm6803

MMRRC Submission

039639-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R1602 (G1)

Quality Score

147

Status

Not validated

Chromosome

Chromosomal Location

87985107-87985541 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 87985134 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 136 (E136D)

Ref Sequence

ENSEMBL: ENSMUSP00000137317 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000178301]

AlphaFold

J3QPI8

Predicted Effect

probably benign
Transcript: ENSMUST00000178301
AA Change: E136D

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000137317
Gene: ENSMUSG00000096803
AA Change: E136D

Domain	Start	End	E-Value	Type
low complexity region	3	25	N/A	INTRINSIC
eIF1a	28	110	7.09e-44	SMART
low complexity region	132	144	N/A	INTRINSIC

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.4%
20x: 89.4%

Validation Efficiency

91% (49/54)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd12	A	T	17: 66,290,683 (GRCm39)	Y1583*	probably null	Het
Ankrd34c	T	C	9: 89,611,058 (GRCm39)	T428A	possibly damaging	Het
Arfgef1	G	C	1: 10,275,115 (GRCm39)	I312M	probably benign	Het
Atr	T	C	9: 95,833,610 (GRCm39)	L2620P	probably damaging	Het
Ccdc110	A	G	8: 46,391,955 (GRCm39)	Y54C	probably benign	Het
Cecr2	T	C	6: 120,732,548 (GRCm39)	V480A	possibly damaging	Het
Chfr	A	G	5: 110,299,531 (GRCm39)	D308G	probably benign	Het
Cit	T	A	5: 116,135,789 (GRCm39)	I1919N	probably damaging	Het
Ctsc	T	A	7: 87,927,512 (GRCm39)	D34E	possibly damaging	Het
Diaph3	T	A	14: 87,328,594 (GRCm39)		probably benign	Het
Dnah6	T	A	6: 73,044,452 (GRCm39)	I3220F	probably damaging	Het
Eif4a3l1	G	A	6: 136,305,778 (GRCm39)	A80T	probably damaging	Het
Elmod3	A	G	6: 72,546,242 (GRCm39)		probably null	Het
Fgd5	T	C	6: 92,043,165 (GRCm39)	V1215A	possibly damaging	Het
Filip1	T	C	9: 79,727,873 (GRCm39)	M249V	probably damaging	Het
Fmn1	C	T	2: 113,355,968 (GRCm39)	P803L	unknown	Het
Gcfc2	A	G	6: 81,921,401 (GRCm39)	K469R	probably damaging	Het
Itgad	A	G	7: 127,790,111 (GRCm39)	T637A	probably damaging	Het
Kank2	T	C	9: 21,681,133 (GRCm39)	S799G	probably damaging	Het
Kcnc4	A	T	3: 107,355,520 (GRCm39)	D309E	possibly damaging	Het
Lamc2	G	A	1: 153,002,774 (GRCm39)	T1069M	probably benign	Het
Lepr	T	A	4: 101,602,842 (GRCm39)	M210K	possibly damaging	Het
Lig3	T	C	11: 82,683,020 (GRCm39)		probably null	Het
Oat	G	T	7: 132,171,736 (GRCm39)	T33K	probably benign	Het
Or2ad1	T	C	13: 21,326,820 (GRCm39)	M136V	probably damaging	Het
Or4b1d	A	G	2: 89,969,399 (GRCm39)	F28S	probably damaging	Het
Or7c70	T	A	10: 78,682,802 (GRCm39)	M316L	probably benign	Het
Pcnx3	G	T	19: 5,722,543 (GRCm39)	A1383E	probably damaging	Het
Pctp	T	C	11: 89,879,561 (GRCm39)	Y100C	probably damaging	Het
Pex6	G	T	17: 47,023,063 (GRCm39)	R213L	probably benign	Het
Phlpp2	T	C	8: 110,660,655 (GRCm39)	L770S	possibly damaging	Het
Pkn2	A	T	3: 142,559,299 (GRCm39)	D75E	possibly damaging	Het
Pla2g12b	T	C	10: 59,257,375 (GRCm39)		probably null	Het
Plch2	C	T	4: 155,068,907 (GRCm39)	V1135I	probably damaging	Het
Pskh1	T	A	8: 106,639,453 (GRCm39)	S44R	probably benign	Het
Ptpra	G	T	2: 30,327,602 (GRCm39)	A119S	probably benign	Het
Shld2	A	G	14: 33,989,607 (GRCm39)	I433T	probably damaging	Het
Slfn3	A	G	11: 83,103,541 (GRCm39)	I137M	probably damaging	Het
St6galnac1	A	T	11: 116,660,113 (GRCm39)	S67T	probably benign	Het
Timd5	T	C	11: 46,426,415 (GRCm39)	I174T	probably benign	Het
Treml1	A	G	17: 48,671,917 (GRCm39)	E137G	probably damaging	Het
Ubr2	A	C	17: 47,251,987 (GRCm39)	C1518G	probably benign	Het
Vmn2r55	A	T	7: 12,386,571 (GRCm39)	C470S	probably damaging	Het

Other mutations in Eif1ad16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1603:Eif1ad16	UTSW	12	87,985,134 (GRCm39)	missense	probably benign	0.00
R2157:Eif1ad16	UTSW	12	87,985,481 (GRCm39)	missense	unknown
R2508:Eif1ad16	UTSW	12	87,985,258 (GRCm39)	missense	probably damaging	1.00
R4092:Eif1ad16	UTSW	12	87,985,194 (GRCm39)	missense	possibly damaging	0.50
R4328:Eif1ad16	UTSW	12	87,985,285 (GRCm39)	missense	possibly damaging	0.94
R5022:Eif1ad16	UTSW	12	87,985,481 (GRCm39)	missense	unknown
R5057:Eif1ad16	UTSW	12	87,985,481 (GRCm39)	missense	unknown
R5302:Eif1ad16	UTSW	12	87,985,316 (GRCm39)	missense	probably damaging	1.00
R5360:Eif1ad16	UTSW	12	87,985,265 (GRCm39)	missense	probably benign	0.03
R5747:Eif1ad16	UTSW	12	87,985,366 (GRCm39)	missense	possibly damaging	0.93
R6028:Eif1ad16	UTSW	12	87,985,131 (GRCm39)	missense	possibly damaging	0.70
R6275:Eif1ad16	UTSW	12	87,985,255 (GRCm39)	missense	probably benign	0.01
R6644:Eif1ad16	UTSW	12	87,985,460 (GRCm39)	missense	probably benign	0.00
R7689:Eif1ad16	UTSW	12	87,985,259 (GRCm39)	missense	probably damaging	1.00
R8691:Eif1ad16	UTSW	12	87,985,278 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGCACACTGCTGTGCCCTAAG -3'
(R):5'- TGACCAAAATGCTGGGATGTGGATG -3'

Sequencing Primer
(F):5'- GCTGTGCCCTAAGTTCAATTATAC -3'
(R):5'- TGTAAGGAGGCTGTGCCAC -3'

Posted On

2014-04-24