Mutagenetix > Incidental Mutation

Incidental Mutation 'R6210:Raet1d'

503412

Institutional Source

Beutler Lab

Gene Symbol

Raet1d

Ensembl Gene

ENSMUSG00000078452

Gene Name

retinoic acid early transcript delta

Synonyms

RAE-1delta

MMRRC Submission

044344-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R6210 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

22236451-22250038 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 22246849 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 59 (I59N)

Ref Sequence

ENSEMBL: ENSMUSP00000138328 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095795] [ENSMUST00000178026] [ENSMUST00000182677]

AlphaFold

Q9JI58

Predicted Effect

probably damaging
Transcript: ENSMUST00000095795
AA Change: I59N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000093471
Gene: ENSMUSG00000078452
AA Change: I59N

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
Pfam:MHC_I_2	31	200	2.6e-110	PFAM
low complexity region	207	227	N/A	INTRINSIC
transmembrane domain	231	248	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000178026

SMART Domains

Protein: ENSMUSP00000136032
Gene: ENSMUSG00000053219

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 damaging
Transcript: ENSMUST00000182677
AA Change: I59N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000138328
Gene: ENSMUSG00000078452
AA Change: I59N

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
Pfam:MHC_I_2	31	200	5.4e-119	PFAM
low complexity region	207	227	N/A	INTRINSIC
transmembrane domain	231	248	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

95% (52/55)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd3	T	A	18: 10,706,032 (GRCm39)	I94F	probably damaging	Het
Bbox1	A	T	2: 110,100,422 (GRCm39)	D258E	probably benign	Het
Catsperb	A	G	12: 101,378,827 (GRCm39)		probably null	Het
Ccdc127	T	C	13: 74,505,040 (GRCm39)	V196A	probably benign	Het
Cd101	A	T	3: 100,925,959 (GRCm39)	D253E	probably damaging	Het
Ceacam15	T	C	7: 16,407,214 (GRCm39)	Y101C	probably damaging	Het
Cep135	C	T	5: 76,772,570 (GRCm39)	L652F	probably benign	Het
Col5a1	G	T	2: 27,922,633 (GRCm39)	V234L	probably benign	Het
Cxcr6	T	C	9: 123,639,073 (GRCm39)	S25P	possibly damaging	Het
Dctn4	C	T	18: 60,679,865 (GRCm39)	Q258*	probably null	Het
Fmnl2	A	T	2: 53,020,457 (GRCm39)	N1067I	possibly damaging	Het
Frrs1	A	T	3: 116,672,080 (GRCm39)	K59N	probably benign	Het
Gpr157	T	C	4: 150,186,055 (GRCm39)	Y206H	probably damaging	Het
Hephl1	A	G	9: 15,001,860 (GRCm39)	Y161H	possibly damaging	Het
Hinfp	C	T	9: 44,210,169 (GRCm39)		probably null	Het
Igf2r	A	T	17: 12,933,838 (GRCm39)	N805K	probably damaging	Het
Ilrun	A	T	17: 27,986,960 (GRCm39)	D255E	probably benign	Het
Itga3	T	C	11: 94,959,717 (GRCm39)		probably benign	Het
Itga6	A	G	2: 71,664,351 (GRCm39)		probably null	Het
Kcnip1	G	A	11: 33,595,600 (GRCm39)	T30I	possibly damaging	Het
Lig4	T	C	8: 10,021,585 (GRCm39)	T732A	probably benign	Het
Lmod3	T	A	6: 97,224,262 (GRCm39)	T520S	probably damaging	Het
Megf8	G	A	7: 25,043,145 (GRCm39)	V1356I	possibly damaging	Het
Mical3	C	T	6: 121,017,478 (GRCm39)		probably null	Het
Msi1	T	C	5: 115,573,535 (GRCm39)	I8T	probably damaging	Het
Mug4-ps	A	T	6: 121,927,276 (GRCm39)		noncoding transcript	Het
Myo1f	T	A	17: 33,820,044 (GRCm39)	I783N	probably damaging	Het
Nr6a1	A	C	2: 38,619,509 (GRCm39)	I462S	probably damaging	Het
Or2t48	C	T	11: 58,420,090 (GRCm39)	A241T	probably damaging	Het
Or8k23	A	G	2: 86,186,702 (GRCm39)	V8A	probably benign	Het
Pah	C	A	10: 87,419,423 (GRCm39)	Q449K	probably benign	Het
Pced1a	A	G	2: 130,263,839 (GRCm39)	V271A	probably damaging	Het
Pdzrn4	A	T	15: 92,655,562 (GRCm39)	E485V	probably damaging	Het
Psg21	A	G	7: 18,386,270 (GRCm39)	Y239H	probably damaging	Het
Ptprt	T	C	2: 162,109,949 (GRCm39)	Y180C	probably damaging	Het
Rfx1	T	C	8: 84,819,647 (GRCm39)	L653P	probably damaging	Het
Rnase2a	A	G	14: 51,493,131 (GRCm39)	V78A	possibly damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Homo
Serbp1	T	C	6: 67,249,851 (GRCm39)		probably benign	Het
Tlr1	A	T	5: 65,082,629 (GRCm39)	H649Q	probably damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Trpc6	T	A	9: 8,656,731 (GRCm39)	D719E	probably benign	Het
Ttc21b	A	T	2: 66,066,698 (GRCm39)	S318R	probably benign	Het
Ttn	G	A	2: 76,579,673 (GRCm39)	T23740M	probably damaging	Het
Uhmk1	T	C	1: 170,039,806 (GRCm39)	Q187R	probably damaging	Het
Ung	C	T	5: 114,269,438 (GRCm39)	A50V	probably benign	Het
Upk3bl	C	T	5: 136,088,674 (GRCm39)	Q103*	probably null	Het
Usp17le	C	A	7: 104,418,350 (GRCm39)	C264F	probably damaging	Het
Vmn2r105	T	A	17: 20,448,758 (GRCm39)	N140Y	probably damaging	Het
Vmn2r84	C	T	10: 130,222,114 (GRCm39)	C702Y	probably damaging	Het
Zfp709	TCGACG	TCG	8: 72,644,552 (GRCm39)		probably benign	Het
Zfp748	G	A	13: 67,688,923 (GRCm39)	P779L	possibly damaging	Het

Other mutations in Raet1d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00958:Raet1d	APN	10	22,246,791 (GRCm39)	missense	possibly damaging	0.82
IGL02011:Raet1d	APN	10	22,247,473 (GRCm39)	missense	probably damaging	1.00
FR4340:Raet1d	UTSW	10	22,247,458 (GRCm39)	missense	probably benign
FR4342:Raet1d	UTSW	10	22,247,458 (GRCm39)	missense	probably benign
FR4449:Raet1d	UTSW	10	22,246,814 (GRCm39)	small insertion	probably benign
FR4589:Raet1d	UTSW	10	22,246,817 (GRCm39)	nonsense	probably null
PIT4434001:Raet1d	UTSW	10	22,247,433 (GRCm39)	nonsense	probably null
R0241:Raet1d	UTSW	10	22,247,328 (GRCm39)	missense	probably benign	0.21
R0241:Raet1d	UTSW	10	22,247,328 (GRCm39)	missense	probably benign	0.21
R0280:Raet1d	UTSW	10	22,246,782 (GRCm39)	missense	probably damaging	1.00
R0790:Raet1d	UTSW	10	22,246,795 (GRCm39)	missense	probably damaging	1.00
R1671:Raet1d	UTSW	10	22,238,614 (GRCm39)	start codon destroyed	probably null	0.18
R1901:Raet1d	UTSW	10	22,247,350 (GRCm39)	missense	probably damaging	0.96
R2018:Raet1d	UTSW	10	22,246,911 (GRCm39)	missense	probably damaging	1.00
R6004:Raet1d	UTSW	10	22,247,293 (GRCm39)	missense	probably damaging	1.00
R7661:Raet1d	UTSW	10	22,248,156 (GRCm39)	missense	possibly damaging	0.73
R8385:Raet1d	UTSW	10	22,246,817 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- ACCCTGCAGAAGAATACTTGG -3'
(R):5'- ACATTCCTGCACGTACTCTG -3'

Sequencing Primer
(F):5'- CCTGCAGAAGAATACTTGGGATCAC -3'
(R):5'- TGTACTCTATCCATACTTACCATTGG -3'

Posted On

2018-02-27