Mutagenetix > Incidental Mutation

Incidental Mutation 'R8682:Eif4a3l1'

661804

Institutional Source

Beutler Lab

Gene Symbol

Eif4a3l1

Ensembl Gene

ENSMUSG00000094973

Gene Name

eukaryotic translation initiation factor 4A3 like 1

Synonyms

B020013A22Rik, Gm8994

MMRRC Submission

068537-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.922) question?

Stock #

R8682 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

136304537-136306981 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 136306027 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 163 (T163A)

Ref Sequence

ENSEMBL: ENSMUSP00000144809 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077886] [ENSMUST00000204530] [ENSMUST00000204966]

AlphaFold

E9PV04

Predicted Effect

possibly damaging
Transcript: ENSMUST00000077886
AA Change: T163A

PolyPhen 2 Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000133154
Gene: ENSMUSG00000094973
AA Change: T163A

Domain	Start	End	E-Value	Type
DEXDc	57	254	4.55e-57	SMART
HELICc	291	372	1.63e-35	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000204530
AA Change: T163A

PolyPhen 2 Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000144809
Gene: ENSMUSG00000094973
AA Change: T163A

Domain	Start	End	E-Value	Type
DEXDc	57	254	4.55e-57	SMART
HELICc	291	372	1.63e-35	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000204966
AA Change: T142A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000145166
Gene: ENSMUSG00000094973
AA Change: T142A

Domain	Start	End	E-Value	Type
DEXDc	57	233	1.8e-41	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 98.9%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810065E05Rik	T	A	11: 58,314,725 (GRCm39)	L141Q	probably null	Het
Abtb2	A	T	2: 103,397,720 (GRCm39)	T217S	probably benign	Het
Adcy1	T	C	11: 7,111,328 (GRCm39)	I873T	probably damaging	Het
Angpt4	A	G	2: 151,769,005 (GRCm39)	M172V	probably benign	Het
Apaf1	A	T	10: 90,831,532 (GRCm39)	V1194D	probably damaging	Het
Arhgap30	T	C	1: 171,234,970 (GRCm39)	S479P	probably benign	Het
Asah2	C	T	19: 32,030,277 (GRCm39)	V132M	probably damaging	Het
Bmp10	A	G	6: 87,410,541 (GRCm39)		probably null	Het
Bsn	T	C	9: 107,983,368 (GRCm39)	Y790C		Het
Cacna2d1	C	A	5: 16,558,837 (GRCm39)	R732S	possibly damaging	Het
Casr	A	T	16: 36,315,784 (GRCm39)	F762Y	possibly damaging	Het
Cbln1	T	C	8: 88,198,735 (GRCm39)	D45G	possibly damaging	Het
Cd177	A	T	7: 24,459,438 (GRCm39)	M61K	possibly damaging	Het
Cdh11	T	C	8: 103,377,348 (GRCm39)	I433V	probably benign	Het
Cdhr5	A	G	7: 140,855,899 (GRCm39)		probably null	Het
Col12a1	T	A	9: 79,568,358 (GRCm39)	K1622I	probably benign	Het
Cyp2d9	A	G	15: 82,337,917 (GRCm39)	D103G	probably damaging	Het
Dync2i1	A	T	12: 116,188,610 (GRCm39)	H661Q	probably damaging	Het
Fem1b	A	T	9: 62,704,432 (GRCm39)	L276*	probably null	Het
Fggy	T	A	4: 95,700,358 (GRCm39)	V343E	probably damaging	Het
Flt3	A	G	5: 147,320,265 (GRCm39)	V33A	probably benign	Het
Grn	T	C	11: 102,325,646 (GRCm39)	Y288H	probably benign	Het
Grtp1	G	A	8: 13,229,499 (GRCm39)	R272W	probably damaging	Het
H2-Aa	A	G	17: 34,502,734 (GRCm39)	I144T	possibly damaging	Het
Herc1	A	G	9: 66,370,130 (GRCm39)	D469G		Het
Hsf2	G	A	10: 57,381,267 (GRCm39)	E286K	possibly damaging	Het
Hydin	A	G	8: 111,035,798 (GRCm39)	E163G	probably damaging	Het
Il6ra	A	G	3: 89,793,976 (GRCm39)	I224T	possibly damaging	Het
Itih3	T	A	14: 30,642,673 (GRCm39)	I204F	possibly damaging	Het
Kcnj9	A	T	1: 172,153,680 (GRCm39)	M148K	possibly damaging	Het
Lepr	T	G	4: 101,649,269 (GRCm39)	V890G	probably benign	Het
Mslnl	A	G	17: 25,965,962 (GRCm39)	D612G	probably benign	Het
Myl2	T	A	5: 122,244,798 (GRCm39)	V156D	probably damaging	Het
Neb	C	A	2: 52,136,857 (GRCm39)	W3208L	probably damaging	Het
Neto2	T	C	8: 86,367,295 (GRCm39)	Y511C	probably benign	Het
Obi1	G	T	14: 104,717,669 (GRCm39)	R235S	probably damaging	Het
Obox2	C	A	7: 15,130,912 (GRCm39)	T48K	possibly damaging	Het
Or14a259	C	T	7: 86,013,373 (GRCm39)	M57I	probably damaging	Het
Or51f2	T	A	7: 102,526,646 (GRCm39)	F106L	probably benign	Het
Or5aq6	A	T	2: 86,923,390 (GRCm39)	M117K	possibly damaging	Het
Osbpl6	C	G	2: 76,407,425 (GRCm39)	H486D	probably benign	Het
Pfkfb3	T	C	2: 11,489,144 (GRCm39)	K264E	probably benign	Het
Phf11	G	A	14: 59,496,033 (GRCm39)	T27I	probably benign	Het
Pla2r1	T	A	2: 60,253,120 (GRCm39)	T1324S	possibly damaging	Het
Plekhg1	A	T	10: 3,897,523 (GRCm39)	Y495F		Het
Ppp2r5d	T	C	17: 46,997,989 (GRCm39)	K225E	probably benign	Het
Ptpn11	T	C	5: 121,306,053 (GRCm39)	D64G	possibly damaging	Het
Ptprs	A	G	17: 56,742,849 (GRCm39)	I431T	probably damaging	Het
Rapgef5	T	C	12: 117,545,432 (GRCm39)	S100P	probably benign	Het
Shh	T	A	5: 28,663,058 (GRCm39)	H370L	probably benign	Het
Siah3	A	T	14: 75,763,043 (GRCm39)	H98L	possibly damaging	Het
Sim2	C	T	16: 93,924,192 (GRCm39)	H446Y	probably benign	Het
Skint4	T	C	4: 111,993,237 (GRCm39)	I320T	possibly damaging	Het
Sorcs1	A	T	19: 50,367,398 (GRCm39)	N221K	probably damaging	Het
Sox6	T	C	7: 115,076,191 (GRCm39)	S816G	probably damaging	Het
Sphkap	T	C	1: 83,256,997 (GRCm39)	T251A	probably benign	Het
Stard9	T	C	2: 120,533,796 (GRCm39)	V3351A	possibly damaging	Het
Tbc1d15	A	G	10: 115,046,195 (GRCm39)	V436A	probably benign	Het
Thsd7b	A	T	1: 129,688,011 (GRCm39)	K641*	probably null	Het
Tmc5	G	T	7: 118,269,925 (GRCm39)	V892F	possibly damaging	Het
Tpsab1	T	A	17: 25,562,685 (GRCm39)	H238L	probably benign	Het
Trank1	A	G	9: 111,194,412 (GRCm39)	N812S	probably benign	Het
Trio	T	A	15: 27,905,278 (GRCm39)	N163Y	unknown	Het
Ttc39d	A	G	17: 80,524,693 (GRCm39)	T451A	probably benign	Het
Ube3b	T	C	5: 114,550,351 (GRCm39)	L832P	probably damaging	Het
Vmn2r15	C	A	5: 109,441,938 (GRCm39)	C165F	probably damaging	Het
Vmn2r90	T	C	17: 17,932,344 (GRCm39)	F84L	possibly damaging	Het
Wdr95	C	T	5: 149,518,752 (GRCm39)	T531I	possibly damaging	Het
Zcrb1	C	A	15: 93,284,118 (GRCm39)	G191V	probably benign	Het
Zfp111	G	A	7: 23,897,983 (GRCm39)	P544S	probably damaging	Het
Zfyve9	T	C	4: 108,576,539 (GRCm39)	S181G	probably benign	Het

Other mutations in Eif4a3l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00970:Eif4a3l1	APN	6	136,306,109 (GRCm39)	missense	probably damaging	1.00
IGL02480:Eif4a3l1	APN	6	136,306,213 (GRCm39)	missense	probably damaging	1.00
IGL03048:Eif4a3l1	UTSW	6	136,306,198 (GRCm39)	missense	probably damaging	1.00
R0153:Eif4a3l1	UTSW	6	136,305,842 (GRCm39)	missense	probably damaging	0.99
R1602:Eif4a3l1	UTSW	6	136,305,778 (GRCm39)	missense	probably damaging	0.98
R2258:Eif4a3l1	UTSW	6	136,305,559 (GRCm39)	missense	probably benign	0.00
R3915:Eif4a3l1	UTSW	6	136,306,420 (GRCm39)	missense	probably benign	0.04
R4898:Eif4a3l1	UTSW	6	136,305,737 (GRCm39)	missense	possibly damaging	0.60
R4902:Eif4a3l1	UTSW	6	136,306,262 (GRCm39)	missense	probably benign	0.42
R5349:Eif4a3l1	UTSW	6	136,306,694 (GRCm39)	missense	probably damaging	1.00
R5488:Eif4a3l1	UTSW	6	136,306,555 (GRCm39)	missense	probably damaging	1.00
R5491:Eif4a3l1	UTSW	6	136,306,555 (GRCm39)	missense	probably damaging	1.00
R5493:Eif4a3l1	UTSW	6	136,306,555 (GRCm39)	missense	probably damaging	1.00
R5494:Eif4a3l1	UTSW	6	136,306,555 (GRCm39)	missense	probably damaging	1.00
R5548:Eif4a3l1	UTSW	6	136,306,568 (GRCm39)	missense	probably damaging	0.99
R5668:Eif4a3l1	UTSW	6	136,306,393 (GRCm39)	missense	probably benign	0.00
R5998:Eif4a3l1	UTSW	6	136,305,622 (GRCm39)	missense	probably benign	0.23
R6393:Eif4a3l1	UTSW	6	136,305,596 (GRCm39)	missense	probably benign
R6898:Eif4a3l1	UTSW	6	136,305,617 (GRCm39)	missense	probably benign	0.10
R7180:Eif4a3l1	UTSW	6	136,306,535 (GRCm39)	missense	probably damaging	1.00
R7193:Eif4a3l1	UTSW	6	136,306,213 (GRCm39)	missense	probably damaging	1.00
R7274:Eif4a3l1	UTSW	6	136,306,396 (GRCm39)	missense	possibly damaging	0.81
R7731:Eif4a3l1	UTSW	6	136,305,871 (GRCm39)	missense	probably benign	0.00
R8350:Eif4a3l1	UTSW	6	136,306,241 (GRCm39)	missense	possibly damaging	0.78
R8351:Eif4a3l1	UTSW	6	136,305,542 (GRCm39)	start codon destroyed	probably null	0.01
R8363:Eif4a3l1	UTSW	6	136,306,453 (GRCm39)	missense	probably benign	0.00
R8450:Eif4a3l1	UTSW	6	136,306,241 (GRCm39)	missense	possibly damaging	0.78
R8451:Eif4a3l1	UTSW	6	136,305,542 (GRCm39)	start codon destroyed	probably null	0.01
R9229:Eif4a3l1	UTSW	6	136,306,141 (GRCm39)	missense	possibly damaging	0.61
R9351:Eif4a3l1	UTSW	6	136,306,771 (GRCm39)	missense	probably benign	0.37
Z1176:Eif4a3l1	UTSW	6	136,306,021 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- CAGTATCTCAGTGCTCCAGTG -3'
(R):5'- GGATCTCATGAGGCAGTGTG -3'

Sequencing Primer
(F):5'- TGGATATCCAGGTTCGAGAAAC -3'
(R):5'- TGGCACTGACGAGAACGACC -3'

Posted On

2021-03-08