Mutagenetix > Incidental Mutation

Incidental Mutation 'R9303:Raet1e'

705072

Institutional Source

Beutler Lab

Gene Symbol

Raet1e

Ensembl Gene

ENSMUSG00000053219

Gene Name

retinoic acid early transcript 1E

Synonyms

Rae-1 epsilon

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.676) question?

Stock #

R9303 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

22034441-22059820 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 22057872 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 213 (T213I)

Ref Sequence

ENSEMBL: ENSMUSP00000066627 (fasta)

Gene Model

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

AlphaFold

Q9CZQ6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000065527
AA Change: T213I

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000066627
Gene: ENSMUSG00000053219
AA Change: T213I

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

possibly damaging
Transcript: ENSMUST00000178026
AA Change: T213I

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000136032
Gene: ENSMUSG00000053219
AA Change: T213I

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

possibly damaging
Transcript: ENSMUST00000181645
AA Change: T213I

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000138022
Gene: ENSMUSG00000053219
AA Change: T213I

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: 99.6%
20x: 98.8%

Validation Efficiency

100% (57/57)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	G	7: 120,126,989 (GRCm39)	I1227V	probably benign	Het
Acte1	G	T	7: 143,434,902 (GRCm39)		probably null	Het
Adamts17	T	C	7: 66,489,645 (GRCm39)	L21P	probably damaging	Het
Adcy1	T	C	11: 7,094,766 (GRCm39)	V564A	probably damaging	Het
Adgre1	A	G	17: 57,748,275 (GRCm39)	N492D	probably benign	Het
Aldh1b1	G	A	4: 45,803,811 (GRCm39)	V450M	probably damaging	Het
Arv1	T	A	8: 125,457,685 (GRCm39)	H196Q	probably damaging	Het
Atp9a	A	T	2: 168,517,163 (GRCm39)	I390N	probably benign	Het
Bltp1	A	G	3: 37,098,969 (GRCm39)	I1277V		Het
Capn10	T	C	1: 92,871,665 (GRCm39)		probably null	Het
Casq2	A	G	3: 102,052,700 (GRCm39)	D404G	unknown	Het
Cenpf	T	C	1: 189,392,271 (GRCm39)		probably null	Het
Cep295nl	G	A	11: 118,224,766 (GRCm39)	P26L	possibly damaging	Het
Chmp4c	T	G	3: 10,454,974 (GRCm39)	S214A	probably benign	Het
Chrna5	T	C	9: 54,912,156 (GRCm39)	F319L	probably benign	Het
Csmd1	G	T	8: 16,011,532 (GRCm39)	T2507K	probably benign	Het
Ctnnd2	T	C	15: 30,967,037 (GRCm39)	M996T	probably damaging	Het
Dbf4	T	C	5: 8,448,102 (GRCm39)	T328A	unknown	Het
Ddc	C	T	11: 11,779,132 (GRCm39)	V331I	probably benign	Het
Fads2b	A	T	2: 85,330,649 (GRCm39)	C219*	probably null	Het
Fat1	T	A	8: 45,463,498 (GRCm39)	W1347R	probably damaging	Het
Fbxw21	A	G	9: 108,986,727 (GRCm39)	F51L	probably benign	Het
Gng2	G	T	14: 19,925,961 (GRCm39)	H44N	probably damaging	Het
Hps5	G	A	7: 46,438,619 (GRCm39)	T38I	possibly damaging	Het
Igf2	G	A	7: 142,208,153 (GRCm39)	R64C	probably damaging	Het
Inpp4b	C	T	8: 82,759,758 (GRCm39)	A601V	probably damaging	Het
Kdm2a	A	G	19: 4,395,606 (GRCm39)	Y342H	probably benign	Het
Kidins220	C	A	12: 25,107,110 (GRCm39)	T1430K	probably benign	Het
Knl1	T	C	2: 118,898,829 (GRCm39)	C177R	possibly damaging	Het
Krt32	T	C	11: 99,972,029 (GRCm39)	T440A	probably benign	Het
Kynu	T	A	2: 43,569,768 (GRCm39)	F350Y	probably damaging	Het
Lama4	T	C	10: 38,973,137 (GRCm39)	L1568P	probably damaging	Het
Lrp1b	A	T	2: 41,618,574 (GRCm39)	S281T		Het
Or2y3	A	T	17: 38,393,629 (GRCm39)	V80D	probably damaging	Het
Or5h23	A	G	16: 58,906,802 (GRCm39)	S15P	probably benign	Het
Or8c19-ps1	C	T	9: 38,220,463 (GRCm39)	T124M	probably benign	Het
Orc3	G	A	4: 34,607,181 (GRCm39)	R50*	probably null	Het
Osbpl6	T	A	2: 76,378,716 (GRCm39)	D124E	probably damaging	Het
Parp4	TG	T	14: 56,832,790 (GRCm39)		probably null	Het
Parp4	T	C	14: 56,852,224 (GRCm39)		probably null	Het
Pcdhb18	A	C	18: 37,625,004 (GRCm39)	H778P	probably benign	Het
Polg	A	T	7: 79,105,860 (GRCm39)	Y710N	probably benign	Het
Ppp2r2b	C	A	18: 42,779,025 (GRCm39)	R370L	possibly damaging	Het
Reln	T	A	5: 22,193,705 (GRCm39)	S1418C	possibly damaging	Het
Reln	T	C	5: 22,285,689 (GRCm39)	S427G	probably benign	Het
Rhobtb2	G	A	14: 70,025,376 (GRCm39)	H633Y	probably damaging	Het
Serpina3i	T	C	12: 104,234,881 (GRCm39)	V404A	probably damaging	Het
Serpinb8	T	C	1: 107,526,769 (GRCm39)		probably null	Het
Sorl1	G	T	9: 41,900,739 (GRCm39)	Q1658K	probably damaging	Het
Tmem26	G	A	10: 68,559,816 (GRCm39)	W29*	probably null	Het
Togaram2	A	G	17: 71,996,408 (GRCm39)	E137G	probably damaging	Het
Ttc39b	A	G	4: 83,151,023 (GRCm39)	L524S	probably damaging	Het
Usp43	T	C	11: 67,767,345 (GRCm39)	N675S	probably damaging	Het
Vmn2r104	A	G	17: 20,268,439 (GRCm39)	L10P	possibly damaging	Het
Zbtb1	G	A	12: 76,432,773 (GRCm39)	R253Q	probably damaging	Het
Zfp354b	T	A	11: 50,820,256 (GRCm39)	R36S	probably damaging	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
R8771:Raet1e	UTSW	10	22,057,041 (GRCm39)	missense	probably damaging	1.00
Z1088:Raet1e	UTSW	10	22,057,850 (GRCm39)	missense	possibly damaging	0.56

Predicted Primers

PCR Primer
(F):5'- TTTCCCCAACATTCAGAAAGTG -3'
(R):5'- AGTCCTCTGCAGAACAACTC -3'

Sequencing Primer
(F):5'- CATTCAGAAAGTGATAGCCATAGGAC -3'
(R):5'- TCCTCTGCAGAACAACTCTACCAAG -3'

Posted On

2022-03-25