Mutagenetix > Incidental Mutation

Incidental Mutation 'R0280:Raet1d'

37470

Institutional Source

Beutler Lab

Gene Symbol

Raet1d

Ensembl Gene

ENSMUSG00000078452

Gene Name

retinoic acid early transcript delta

Synonyms

RAE-1delta

MMRRC Submission

038502-MU

Accession Numbers

Essential gene?

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

Stock #

R0280 (G1)

Quality Score

162

Status

Validated

Chromosome

Chromosomal Location

22236451-22250038 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 22246782 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 37 (C37S)

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: C37S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000093471
Gene: ENSMUSG00000078452
AA Change: C37S

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: C37S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000138328
Gene: ENSMUSG00000078452
AA Change: C37S

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: 99.2%
3x: 98.6%
10x: 96.9%
20x: 94.6%

Validation Efficiency

96% (55/57)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg3	T	A	17: 57,192,169 (GRCm39)	Y577*	probably null	Het
Adam18	C	T	8: 25,164,070 (GRCm39)	G38R	probably benign	Het
Ankrd16	T	G	2: 11,786,312 (GRCm39)	V187G	probably damaging	Het
Ccdc110	A	T	8: 46,396,487 (GRCm39)	N793Y	probably benign	Het
Ccdc170	T	C	10: 4,508,663 (GRCm39)	I629T	possibly damaging	Het
Clcn6	A	G	4: 148,093,172 (GRCm39)	L836P	probably damaging	Het
Colgalt2	G	T	1: 152,384,312 (GRCm39)	A551S	possibly damaging	Het
Crocc	T	C	4: 140,755,737 (GRCm39)	E1097G	probably damaging	Het
Csmd1	A	T	8: 16,321,616 (GRCm39)	V494E	probably damaging	Het
Drg1	A	T	11: 3,206,537 (GRCm39)		probably null	Het
Dscam	T	C	16: 96,840,206 (GRCm39)	K134E	possibly damaging	Het
Dyrk1b	T	C	7: 27,883,737 (GRCm39)	Y198H	probably damaging	Het
Esr1	A	G	10: 4,806,951 (GRCm39)	D289G	probably benign	Het
Esr1	G	T	10: 4,889,289 (GRCm39)	V396F	probably damaging	Het
Evi5l	T	C	8: 4,243,133 (GRCm39)	V339A	probably damaging	Het
Fat4	A	T	3: 38,944,965 (GRCm39)	Q1286L	probably benign	Het
Fcsk	A	T	8: 111,621,380 (GRCm39)	V188D	probably damaging	Het
Frem1	T	C	4: 82,887,681 (GRCm39)	H1118R	probably damaging	Het
Fut9	C	T	4: 25,619,852 (GRCm39)	D321N	probably benign	Het
Gaa	T	G	11: 119,175,373 (GRCm39)	V917G	probably damaging	Het
Gm973	GCC	GC	1: 59,583,839 (GRCm39)		probably null	Het
Kidins220	A	G	12: 25,060,140 (GRCm39)	T767A	probably damaging	Het
Kif7	A	G	7: 79,348,571 (GRCm39)	S1257P	probably benign	Het
Ltn1	A	G	16: 87,194,726 (GRCm39)	L1391P	probably damaging	Het
Mast3	A	G	8: 71,240,564 (GRCm39)	V291A	possibly damaging	Het
Mast3	A	G	8: 71,236,439 (GRCm39)	Y681H	probably damaging	Het
Metrn	C	T	17: 26,014,109 (GRCm39)	R239H	probably benign	Het
Mphosph10	C	A	7: 64,026,451 (GRCm39)	K666N	possibly damaging	Het
Mtbp	C	T	15: 55,449,857 (GRCm39)	T433I	probably benign	Het
Mtmr2	A	G	9: 13,710,545 (GRCm39)	K365E	probably damaging	Het
Nanog	A	G	6: 122,690,357 (GRCm39)	D229G	probably damaging	Het
Nkapd1	T	C	9: 50,520,679 (GRCm39)	T123A	probably damaging	Het
Npepps	T	C	11: 97,131,840 (GRCm39)	N338S	possibly damaging	Het
Nphp4	T	A	4: 152,636,393 (GRCm39)		probably benign	Het
Odad4	A	T	11: 100,441,091 (GRCm39)	K107N	probably damaging	Het
Or4g16	T	C	2: 111,137,417 (GRCm39)	F289S	possibly damaging	Het
Plcl2	A	G	17: 50,914,062 (GRCm39)	E357G	probably damaging	Het
Polb	A	T	8: 23,130,408 (GRCm39)	Y173N	probably damaging	Het
R3hdm1	T	A	1: 128,090,512 (GRCm39)	S74T	probably benign	Het
Reln	G	A	5: 22,432,511 (GRCm39)		probably benign	Het
Rps6kc1	T	C	1: 190,541,197 (GRCm39)	S369G	probably damaging	Het
Sgf29	A	G	7: 126,270,743 (GRCm39)	E108G	probably benign	Het
Sh3tc1	A	G	5: 35,863,361 (GRCm39)	L942P	probably damaging	Het
Slc22a27	A	T	19: 7,874,187 (GRCm39)	L188*	probably null	Het
Slc9a3	T	A	13: 74,307,543 (GRCm39)	I445N	probably damaging	Het
Sufu	A	T	19: 46,439,112 (GRCm39)		probably benign	Het
Tomm40	G	A	7: 19,447,676 (GRCm39)	T118I	probably damaging	Het
Ttn	C	T	2: 76,570,823 (GRCm39)	R26690H	probably damaging	Het
Vmn2r16	A	G	5: 109,488,005 (GRCm39)	I293V	possibly damaging	Het
Vmn2r68	T	A	7: 84,882,457 (GRCm39)		probably benign	Het
Vmn2r68	C	G	7: 84,882,466 (GRCm39)		probably null	Het
Vsig8	A	G	1: 172,389,105 (GRCm39)	D119G	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
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
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'- GGTGGACATCTTGAACAGGGTCTTC -3'
(R):5'- GTTGAATTCCCAGGTGGCACTAGG -3'

Sequencing Primer
(F):5'- ACATCTTGAACAGGGTCTTCTCTTC -3'
(R):5'- CTCTACAAGCTTATGTGTCAGTATC -3'

Posted On

2013-05-23