Mutagenetix > Incidental Mutation

Incidental Mutation 'R6004:Raet1d'

478520

Institutional Source

Beutler Lab

Gene Symbol

Raet1d

Ensembl Gene

ENSMUSG00000078452

Gene Name

retinoic acid early transcript delta

Synonyms

RAE-1delta

MMRRC Submission

044182-MU

Accession Numbers

Essential gene?

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

Stock #

R6004 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

22236451-22250038 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 22247293 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 123 (I123N)

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: I123N

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

SMART Domains

Protein: ENSMUSP00000093471
Gene: ENSMUSG00000078452
AA Change: I123N

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: I123N

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

SMART Domains

Protein: ENSMUSP00000138328
Gene: ENSMUSG00000078452
AA Change: I123N

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.8%
3x: 99.4%
10x: 96.8%
20x: 89.1%

Validation Efficiency

98% (55/56)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp6	C	T	3: 97,082,997 (GRCm39)	A336V	probably benign	Het
Adam5	T	A	8: 25,271,685 (GRCm39)	Y574F	probably benign	Het
Arl6	A	T	16: 59,444,257 (GRCm39)	W80R	probably damaging	Het
Bmal1	A	T	7: 112,879,934 (GRCm39)	D22V	probably damaging	Het
Cars2	A	G	8: 11,597,743 (GRCm39)	I111T	probably damaging	Het
Chrd	T	C	16: 20,553,987 (GRCm39)	L317S	possibly damaging	Het
Cyp4a12b	A	G	4: 115,290,664 (GRCm39)	D262G	probably benign	Het
Dcaf6	A	G	1: 165,216,254 (GRCm39)	S450P	probably benign	Het
Dnah3	T	C	7: 119,685,520 (GRCm39)	D164G	probably benign	Het
Gpx6	A	C	13: 21,503,239 (GRCm39)	T218P	probably benign	Het
Htr1f	T	C	16: 64,746,239 (GRCm39)	N351S	probably damaging	Het
Idua	A	G	5: 108,828,510 (GRCm39)	E241G	probably benign	Het
Ighv14-2	T	A	12: 113,958,255 (GRCm39)	Q62L	probably damaging	Het
Ighv1-65	C	T	12: 115,496,056 (GRCm39)		noncoding transcript	Het
Inpp4a	T	C	1: 37,411,451 (GRCm39)	S372P	probably damaging	Het
Itgax	A	T	7: 127,730,624 (GRCm39)	H114L	probably damaging	Het
Lama2	A	T	10: 27,111,781 (GRCm39)	F746L	probably benign	Het
Lrrc37a	C	T	11: 103,393,362 (GRCm39)	V688M	possibly damaging	Het
Ltbp2	A	G	12: 84,922,923 (GRCm39)	V28A	probably benign	Het
Mill2	A	T	7: 18,590,463 (GRCm39)	D166V	probably benign	Het
Mroh2a	G	A	1: 88,176,377 (GRCm39)	C982Y	probably damaging	Het
Msh3	T	A	13: 92,478,922 (GRCm39)		probably null	Het
Myh15	A	T	16: 48,980,062 (GRCm39)	M1395L	probably benign	Het
Npepps	T	C	11: 97,113,950 (GRCm39)	E642G	probably benign	Het
Nrg4	T	C	9: 55,166,667 (GRCm39)	T68A	possibly damaging	Het
Or10ag60	T	A	2: 87,438,253 (GRCm39)	F174I	probably damaging	Het
Or4b1d	T	C	2: 89,969,343 (GRCm39)	N47D	probably benign	Het
Or4f60	G	T	2: 111,902,371 (GRCm39)	L186I	probably damaging	Het
Or6c66b	T	A	10: 129,376,759 (GRCm39)	Y118N	probably benign	Het
Or8b41	A	G	9: 38,055,256 (GRCm39)	K270R	probably damaging	Het
Or9g20	A	T	2: 85,629,726 (GRCm39)	V296E	probably damaging	Het
Otogl	T	A	10: 107,715,390 (GRCm39)	I429F	probably damaging	Het
Pank4	G	T	4: 155,061,678 (GRCm39)	G532C	probably damaging	Het
Plce1	A	G	19: 38,710,315 (GRCm39)	T1150A	probably damaging	Het
Ppp2r2b	T	C	18: 43,192,224 (GRCm39)		probably null	Het
Prkrip1	A	G	5: 136,226,636 (GRCm39)	M68T	probably damaging	Het
Psme4	T	A	11: 30,806,896 (GRCm39)		probably benign	Het
Rp1	T	G	1: 4,267,808 (GRCm39)	T825P	unknown	Het
Rttn	T	C	18: 89,039,816 (GRCm39)	I839T	probably damaging	Het
Sgo2b	G	A	8: 64,379,707 (GRCm39)	Q1042*	probably null	Het
Skint11	A	G	4: 114,088,925 (GRCm39)	T240A	probably benign	Het
Speg	A	T	1: 75,392,247 (GRCm39)	K1382*	probably null	Het
Srsf7	A	T	17: 80,513,282 (GRCm39)	D68E	probably damaging	Het
Stag3	A	T	5: 138,287,468 (GRCm39)	D131V	probably damaging	Het
Strip2	T	A	6: 29,926,570 (GRCm39)	C152S	probably damaging	Het
Timm44	G	T	8: 4,317,747 (GRCm39)	D191E	probably benign	Het
Tlnrd1	A	G	7: 83,531,987 (GRCm39)	V148A	probably damaging	Het
Trp63	T	C	16: 25,582,146 (GRCm39)		probably null	Het
Tusc3	G	C	8: 39,538,560 (GRCm39)	G200R	probably damaging	Het
Vmn2r10	T	G	5: 109,146,944 (GRCm39)	N448T	probably benign	Het
Vmn2r50	G	A	7: 9,783,986 (GRCm39)	R163C	probably benign	Het
Vmn2r53	T	C	7: 12,316,328 (GRCm39)	H497R	probably benign	Het
Vps39	A	G	2: 120,176,131 (GRCm39)	V83A	possibly damaging	Het
Ylpm1	A	T	12: 85,075,858 (GRCm39)	N861I	possibly damaging	Het
Zfp712	A	G	13: 67,189,769 (GRCm39)	C253R	probably damaging	Het
Zfp930	A	G	8: 69,680,556 (GRCm39)	T84A	probably benign	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
R6210:Raet1d	UTSW	10	22,246,849 (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'- TTGTGGTACCTTGCAGCCAC -3'
(R):5'- CTTGGACTGCTTTAAGAATTCATCC -3'

Sequencing Primer
(F):5'- TTGCAGCCACAGGGTACAC -3'
(R):5'- TGACTGCATCCGTGTATCAAG -3'

Posted On

2017-06-26