Mutagenetix > Incidental Mutation

Incidental Mutation 'R8771:Raet1e'

664416

Institutional Source

Beutler Lab

Gene Symbol

Raet1e

Ensembl Gene

ENSMUSG00000053219

Gene Name

retinoic acid early transcript 1E

Synonyms

Rae-1 epsilon

MMRRC Submission

068602-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.670) question?

Stock #

R8771 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

22034441-22059820 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 22057041 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 122 (V122F)

Ref Sequence

ENSEMBL: ENSMUSP00000066627 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065527] [ENSMUST00000105522] [ENSMUST00000178026] [ENSMUST00000180648] [ENSMUST00000181645]

AlphaFold

Q9CZQ6

Predicted Effect

probably damaging
Transcript: ENSMUST00000065527
AA Change: V122F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000066627
Gene: ENSMUSG00000053219
AA Change: V122F

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
Pfam:MHC_I_2	31	202	1e-121	PFAM
low complexity region	209	229	N/A	INTRINSIC
transmembrane domain	233	250	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105522

SMART Domains

Protein: ENSMUSP00000101161
Gene: ENSMUSG00000075297

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
PDB:4G59\|B	29	195	2e-9	PDB
transmembrane domain	211	233	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000178026
AA Change: V122F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000136032
Gene: ENSMUSG00000053219
AA Change: V122F

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
Pfam:MHC_I_2	31	202	7.3e-112	PFAM
low complexity region	209	229	N/A	INTRINSIC
transmembrane domain	233	250	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000180648

SMART Domains

Protein: ENSMUSP00000137946
Gene: ENSMUSG00000053219

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
Pfam:MHC_I_2	31	66	3.8e-20	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000181645
AA Change: V122F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000138022
Gene: ENSMUSG00000053219
AA Change: V122F

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
Pfam:MHC_I_2	31	202	1e-121	PFAM
low complexity region	209	229	N/A	INTRINSIC
transmembrane domain	233	250	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

100% (47/47)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	C	3: 121,880,320 (GRCm39)	I451T	probably damaging	Het
Acin1	T	C	14: 54,880,496 (GRCm39)	K1236E	unknown	Het
AI661453	T	C	17: 47,777,683 (GRCm39)	S470P	unknown	Het
Ano5	C	A	7: 51,216,095 (GRCm39)	N357K	probably damaging	Het
Ano5	C	T	7: 51,220,047 (GRCm39)	Q396*	probably null	Het
Baz1b	T	A	5: 135,273,151 (GRCm39)	M1425K	probably benign	Het
Cdh22	A	T	2: 164,988,689 (GRCm39)	V222E	possibly damaging	Het
Celsr1	A	T	15: 85,788,175 (GRCm39)	S2692R	probably benign	Het
Ces5a	A	G	8: 94,255,249 (GRCm39)	I144T	possibly damaging	Het
D5Ertd579e	T	A	5: 36,761,940 (GRCm39)	N1309I	probably damaging	Het
Dnmt3b	C	T	2: 153,504,734 (GRCm39)	T112M	possibly damaging	Het
Eif4g3	C	T	4: 137,907,848 (GRCm39)	Q1283*	probably null	Het
Etnppl	T	A	3: 130,414,024 (GRCm39)	M41K	probably damaging	Het
Hhatl	G	A	9: 121,617,776 (GRCm39)	T271I	possibly damaging	Het
Igkv5-37	A	G	6: 69,940,423 (GRCm39)	S74P	probably damaging	Het
Krt87	A	G	15: 101,385,779 (GRCm39)	V272A	probably benign	Het
Lgr6	A	T	1: 134,933,429 (GRCm39)	L262*	probably null	Het
Lrriq3	G	A	3: 154,899,270 (GRCm39)	V590I	probably damaging	Het
Mfsd13a	T	C	19: 46,360,668 (GRCm39)	V382A	probably damaging	Het
Minar2	T	C	18: 59,200,052 (GRCm39)		probably benign	Het
Mrc2	A	G	11: 105,240,596 (GRCm39)	T1429A	probably benign	Het
Mroh5	A	T	15: 73,693,203 (GRCm39)	M79K	possibly damaging	Het
Myo1c	A	G	11: 75,556,709 (GRCm39)	K553R	probably benign	Het
Nbeal1	A	G	1: 60,300,743 (GRCm39)	T1488A	probably benign	Het
Or4c12	T	C	2: 89,773,565 (GRCm39)	K298R	probably benign	Het
Or5aq6	T	C	2: 86,923,294 (GRCm39)	Y149C	probably benign	Het
Or5m10b	T	G	2: 85,699,712 (GRCm39)	Y259D	probably damaging	Het
Or5p76	T	A	7: 108,122,632 (GRCm39)	N175I	possibly damaging	Het
Prl7a1	A	T	13: 27,819,811 (GRCm39)	W148R	probably damaging	Het
Ptpn2	G	T	18: 67,805,659 (GRCm39)	T402K	probably benign	Het
Ptprf	A	G	4: 118,068,987 (GRCm39)	M1665T	possibly damaging	Het
Serpina3m	A	G	12: 104,357,841 (GRCm39)	E255G	probably damaging	Het
Sorcs2	T	C	5: 36,188,624 (GRCm39)	Y828C	probably damaging	Het
Sprr1a	T	A	3: 92,391,989 (GRCm39)	H4L	probably benign	Het
Sptssa	A	G	12: 54,703,211 (GRCm39)	Y20H	probably damaging	Het
Synpo2l	A	G	14: 20,710,491 (GRCm39)	S939P	probably damaging	Het
Tdrd7	T	C	4: 46,010,800 (GRCm39)	V568A	probably damaging	Het
Tmem132c	C	T	5: 127,437,192 (GRCm39)	P227L	probably benign	Het
Tmtc3	A	G	10: 100,286,180 (GRCm39)	S548P	possibly damaging	Het
Trip12	A	T	1: 84,721,018 (GRCm39)		probably benign	Het
Ttll6	A	G	11: 96,042,762 (GRCm39)	Y436C	probably damaging	Het
Unc80	A	G	1: 66,685,554 (GRCm39)	D2226G	possibly damaging	Het
Vmn1r142	T	C	7: 21,862,737 (GRCm39)	M242V	probably benign	Het
Vmn2r12	T	G	5: 109,239,952 (GRCm39)	T204P	possibly damaging	Het
Vmn2r16	C	T	5: 109,488,231 (GRCm39)	T368M	probably benign	Het
Vmn2r61	C	A	7: 41,916,194 (GRCm39)	A269D	probably damaging	Het
Zfp148	A	G	16: 33,317,656 (GRCm39)	D776G	possibly damaging	Het
Zfp775	A	T	6: 48,596,906 (GRCm39)	Q260L	probably benign	Het

Other mutations in Raet1e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01077:Raet1e	APN	10	22,057,219 (GRCm39)	missense	probably damaging	1.00
IGL02406:Raet1e	APN	10	22,056,535 (GRCm39)	missense	probably damaging	1.00
IGL02484:Raet1e	APN	10	22,056,666 (GRCm39)	missense	probably benign	0.01
R0049:Raet1e	UTSW	10	22,056,761 (GRCm39)	missense	possibly damaging	0.65
R0238:Raet1e	UTSW	10	22,056,761 (GRCm39)	missense	possibly damaging	0.65
R0238:Raet1e	UTSW	10	22,056,761 (GRCm39)	missense	possibly damaging	0.65
R0239:Raet1e	UTSW	10	22,056,761 (GRCm39)	missense	possibly damaging	0.65
R0639:Raet1e	UTSW	10	22,050,274 (GRCm39)	missense	probably damaging	0.99
R0885:Raet1e	UTSW	10	22,057,986 (GRCm39)	unclassified	probably benign
R3704:Raet1e	UTSW	10	22,056,744 (GRCm39)	missense	probably benign	0.20
R4764:Raet1e	UTSW	10	22,057,231 (GRCm39)	missense	probably damaging	1.00
R4799:Raet1e	UTSW	10	22,057,199 (GRCm39)	missense	probably damaging	1.00
R5566:Raet1e	UTSW	10	22,050,304 (GRCm39)	missense	probably damaging	1.00
R6034:Raet1e	UTSW	10	22,057,990 (GRCm39)	makesense	probably null
R6034:Raet1e	UTSW	10	22,057,990 (GRCm39)	makesense	probably null
R6077:Raet1e	UTSW	10	22,057,887 (GRCm39)	missense	possibly damaging	0.72
R6238:Raet1e	UTSW	10	22,056,770 (GRCm39)	missense	probably benign	0.01
R6408:Raet1e	UTSW	10	22,056,645 (GRCm39)	missense	probably benign	0.29
R6939:Raet1e	UTSW	10	22,050,256 (GRCm39)	missense	possibly damaging	0.86
R7147:Raet1e	UTSW	10	22,057,179 (GRCm39)	missense	probably benign	0.29
R8026:Raet1e	UTSW	10	22,057,198 (GRCm39)	missense	probably damaging	1.00
R9303:Raet1e	UTSW	10	22,057,872 (GRCm39)	missense	possibly damaging	0.86
Z1088:Raet1e	UTSW	10	22,057,850 (GRCm39)	missense	possibly damaging	0.56

Predicted Primers

PCR Primer
(F):5'- TGGACACTCACAAGACCAATGG -3'
(R):5'- TGTTGCACAAGGTCCCCATC -3'

Sequencing Primer
(F):5'- CTCACAAGACCAATGGTAAGTATG -3'
(R):5'- GCACAAGGTCCCCATCATCTTTC -3'

Posted On

2021-03-08