Mutagenetix > Incidental Mutation

Incidental Mutation 'R9665:Rai14'

727794

Institutional Source

Beutler Lab

Gene Symbol

Rai14

Ensembl Gene

ENSMUSG00000022246

Gene Name

retinoic acid induced 14

Synonyms

1700020L11Rik, Ankycorbin, 1700008J19Rik, Norpeg

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.654) question?

Stock #

R9665 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

10569055-10714710 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 10574803 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 747 (E747D)

Ref Sequence

ENSEMBL: ENSMUSP00000087815 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090339] [ENSMUST00000169385] [ENSMUST00000227506]

AlphaFold

Q9EP71

Predicted Effect

probably damaging
Transcript: ENSMUST00000090339
AA Change: E747D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000087815
Gene: ENSMUSG00000022246
AA Change: E747D

Domain	Start	End	E-Value	Type
Blast:ANK	18	48	4e-10	BLAST
ANK	52	81	1.66e-6	SMART
ANK	85	117	7.02e-5	SMART
ANK	118	147	2.1e-3	SMART
ANK	151	180	2.16e-5	SMART
ANK	184	213	2.85e-5	SMART
ANK	217	247	9.33e2	SMART
low complexity region	343	357	N/A	INTRINSIC
Blast:HAMP	595	646	6e-19	BLAST
low complexity region	897	931	N/A	INTRINSIC
Blast:ANK	944	977	6e-13	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000169385
AA Change: E747D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000126325
Gene: ENSMUSG00000022246
AA Change: E747D

Domain	Start	End	E-Value	Type
Blast:ANK	18	48	4e-10	BLAST
ANK	52	81	1.66e-6	SMART
ANK	85	117	7.02e-5	SMART
ANK	118	147	2.1e-3	SMART
ANK	151	180	2.16e-5	SMART
ANK	184	213	2.85e-5	SMART
ANK	217	247	9.33e2	SMART
low complexity region	343	357	N/A	INTRINSIC
Blast:HAMP	595	646	6e-19	BLAST
low complexity region	897	931	N/A	INTRINSIC
Blast:ANK	944	977	6e-13	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000227506
AA Change: E718D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503E14Rik	T	C	14: 44,407,796 (GRCm39)	E79G	probably damaging	Het
4930583I09Rik	T	A	17: 65,141,288 (GRCm39)	Q78L	unknown	Het
9330159F19Rik	G	T	10: 29,103,344 (GRCm39)	V642F	probably benign	Het
Abca9	T	A	11: 110,006,280 (GRCm39)	Q1275L	probably benign	Het
Abca9	G	T	11: 110,006,281 (GRCm39)	Q1275K	probably benign	Het
Ager	C	T	17: 34,819,090 (GRCm39)	P313S	probably benign	Het
Ap4m1	T	A	5: 138,171,273 (GRCm39)	N98K	probably benign	Het
Arhgef12	T	G	9: 42,929,650 (GRCm39)	K215T	possibly damaging	Het
Arhgef4	T	C	1: 34,849,518 (GRCm39)	Y370H	probably benign	Het
Bcat1	T	G	6: 144,994,488 (GRCm39)	H3P	probably benign	Het
Btnl6	T	A	17: 34,732,635 (GRCm39)	Q313L	probably benign	Het
Cad	T	C	5: 31,229,703 (GRCm39)	S1458P	probably benign	Het
Cfap161	A	G	7: 83,442,579 (GRCm39)	V78A	probably benign	Het
Chd2	C	A	7: 73,079,555 (GRCm39)	A1782S	probably benign	Het
Cimip2b	T	A	4: 43,427,554 (GRCm39)	R257*	probably null	Het
Col4a3	A	T	1: 82,668,301 (GRCm39)	T1042S	unknown	Het
Cramp1	A	T	17: 25,196,545 (GRCm39)	N856K	probably damaging	Het
Crispld2	G	A	8: 120,760,316 (GRCm39)	R414H	probably benign	Het
Ctsb	T	A	14: 63,370,917 (GRCm39)		probably null	Het
Cyp2c69	T	C	19: 39,839,504 (GRCm39)	D373G	possibly damaging	Het
Dnah3	A	G	7: 119,644,981 (GRCm39)	V1100A	probably benign	Het
Dnajb6	A	T	5: 29,971,374 (GRCm39)	L225F	probably damaging	Het
Dscc1	A	T	15: 54,946,837 (GRCm39)	I296K	unknown	Het
Epb41l2	A	G	10: 25,317,798 (GRCm39)	D105G	probably benign	Het
Evpl	G	A	11: 116,123,497 (GRCm39)	R292C	probably damaging	Het
Flnc	T	C	6: 29,455,447 (GRCm39)	I2032T	probably damaging	Het
Fryl	T	A	5: 73,222,299 (GRCm39)	D2094V	probably damaging	Het
Gigyf2	A	G	1: 87,331,457 (GRCm39)	S202G	unknown	Het
Hdgfl1	A	T	13: 26,953,812 (GRCm39)	M87K	probably benign	Het
Htra3	T	A	5: 35,836,654 (GRCm39)	I13F	unknown	Het
Igf2r	T	C	17: 12,913,027 (GRCm39)	N1774D	probably benign	Het
Ighj1	A	T	12: 113,393,446 (GRCm39)	Y3N		Het
Incenp	T	C	19: 9,871,329 (GRCm39)	H100R	unknown	Het
Klrb1c	A	G	6: 128,760,625 (GRCm39)		probably null	Het
Lmbrd1	T	A	1: 24,732,065 (GRCm39)	V94D	probably damaging	Het
Lmna	A	T	3: 88,389,793 (GRCm39)	S611T	probably benign	Het
Lsp1	A	C	7: 142,044,142 (GRCm39)	I296L	probably benign	Het
Mdga1	A	T	17: 30,051,991 (GRCm39)	I892N	probably damaging	Het
Micu3	A	G	8: 40,828,666 (GRCm39)	E351G	probably benign	Het
Mrpl35	A	G	6: 71,795,704 (GRCm39)	V61A	probably benign	Het
Nhsl1	A	G	10: 18,401,599 (GRCm39)	K908E	possibly damaging	Het
Nlk	A	G	11: 78,481,753 (GRCm39)	L236P		Het
Nwd1	T	A	8: 73,401,106 (GRCm39)	H735Q	probably damaging	Het
Or1e1b-ps1	A	T	11: 73,845,656 (GRCm39)	I47F	probably benign	Het
Or5d47	A	G	2: 87,804,596 (GRCm39)	S138P	possibly damaging	Het
Or5w17	A	T	2: 87,583,671 (GRCm39)	I222N	probably damaging	Het
Or7h8	T	A	9: 20,124,402 (GRCm39)	Y252*	probably null	Het
Otof	T	A	5: 30,584,895 (GRCm39)	S70C	probably benign	Het
Pcdh20	A	T	14: 88,707,162 (GRCm39)	V46D	probably benign	Het
Pjvk	A	G	2: 76,487,827 (GRCm39)	T240A	probably benign	Het
Pou2f1	A	G	1: 165,703,600 (GRCm39)	S697P	probably damaging	Het
Prkn	T	A	17: 11,286,062 (GRCm39)	D18E	possibly damaging	Het
Prmt9	G	A	8: 78,307,267 (GRCm39)	V739I	probably benign	Het
Prr14	A	G	7: 127,073,091 (GRCm39)	D146G	probably benign	Het
Rapgef4	A	T	2: 72,036,018 (GRCm39)	T504S	probably benign	Het
Rilpl2	C	A	5: 124,616,240 (GRCm39)		probably benign	Het
Ror2	A	T	13: 53,439,561 (GRCm39)	M1K	probably null	Het
Shisa9	A	G	16: 12,085,446 (GRCm39)	T352A	probably benign	Het
Slc35a4	A	G	18: 36,813,651 (GRCm39)	N33S	probably benign	Het
Slx4	G	T	16: 3,806,890 (GRCm39)	L518I	probably benign	Het
Speer1i	A	G	5: 11,092,852 (GRCm39)	K132R		Het
Spon2	T	C	5: 33,374,702 (GRCm39)	T35A	probably benign	Het
Syne3	A	C	12: 104,924,247 (GRCm39)	L471R	probably benign	Het
Tas2r115	A	G	6: 132,714,390 (GRCm39)	L187S	probably benign	Het
Tbc1d30	G	T	10: 121,102,886 (GRCm39)	S715R	possibly damaging	Het
Tdrd1	A	G	19: 56,819,572 (GRCm39)	E24G	probably benign	Het
Tekt2	C	T	4: 126,217,444 (GRCm39)	R207H	probably damaging	Het
Tjp1	A	G	7: 64,962,644 (GRCm39)	S1178P	probably benign	Het
Upf2	A	G	2: 6,051,715 (GRCm39)	S1126G	unknown	Het
Vmn1r128	G	T	7: 21,083,362 (GRCm39)	C22F	probably damaging	Het
Vmn2r95	G	T	17: 18,660,607 (GRCm39)	V340F	probably damaging	Het
Vps13c	A	T	9: 67,863,025 (GRCm39)	K3014*	probably null	Het
Wdr75	T	C	1: 45,843,013 (GRCm39)	V126A	unknown	Het
Yeats4	A	T	10: 117,053,343 (GRCm39)	Y139*	probably null	Het
Zc3h13	A	G	14: 75,567,989 (GRCm39)	D1094G	probably damaging	Het
Zfp143	C	G	7: 109,692,414 (GRCm39)	I608M	probably damaging	Het
Zfp772	A	T	7: 7,212,793 (GRCm39)	M1K	probably null	Het
Zfp827	A	G	8: 79,906,756 (GRCm39)	M923V	possibly damaging	Het

Other mutations in Rai14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01107:Rai14	APN	15	10,599,797 (GRCm39)	splice site	probably benign
IGL01625:Rai14	APN	15	10,572,460 (GRCm39)	missense	probably benign	0.30
IGL01925:Rai14	APN	15	10,595,948 (GRCm39)	missense	possibly damaging	0.88
IGL02053:Rai14	APN	15	10,633,242 (GRCm39)	missense	probably benign	0.00
IGL02531:Rai14	APN	15	10,574,868 (GRCm39)	missense	probably damaging	1.00
IGL02748:Rai14	APN	15	10,589,421 (GRCm39)	missense	probably benign	0.14
IGL02945:Rai14	APN	15	10,574,795 (GRCm39)	missense	probably benign	0.00
PIT4618001:Rai14	UTSW	15	10,575,242 (GRCm39)	missense	probably damaging	1.00
R1400:Rai14	UTSW	15	10,571,634 (GRCm39)	missense	probably damaging	0.98
R1583:Rai14	UTSW	15	10,588,002 (GRCm39)	missense	probably damaging	1.00
R1686:Rai14	UTSW	15	10,592,282 (GRCm39)	missense	probably damaging	0.98
R1721:Rai14	UTSW	15	10,633,314 (GRCm39)	missense	probably damaging	1.00
R1867:Rai14	UTSW	15	10,633,314 (GRCm39)	missense	probably damaging	1.00
R1868:Rai14	UTSW	15	10,633,314 (GRCm39)	missense	probably damaging	1.00
R1998:Rai14	UTSW	15	10,595,067 (GRCm39)	splice site	probably null
R2118:Rai14	UTSW	15	10,575,252 (GRCm39)	missense	probably benign	0.00
R3161:Rai14	UTSW	15	10,633,250 (GRCm39)	missense	possibly damaging	0.74
R3162:Rai14	UTSW	15	10,633,250 (GRCm39)	missense	possibly damaging	0.74
R3162:Rai14	UTSW	15	10,633,250 (GRCm39)	missense	possibly damaging	0.74
R4049:Rai14	UTSW	15	10,592,298 (GRCm39)	missense	probably benign	0.30
R4611:Rai14	UTSW	15	10,592,224 (GRCm39)	missense	probably damaging	1.00
R4760:Rai14	UTSW	15	10,575,776 (GRCm39)	missense	possibly damaging	0.60
R4863:Rai14	UTSW	15	10,572,556 (GRCm39)	missense	probably damaging	0.99
R5022:Rai14	UTSW	15	10,574,592 (GRCm39)	missense	probably damaging	0.96
R5110:Rai14	UTSW	15	10,690,496 (GRCm39)	start gained	probably benign
R5410:Rai14	UTSW	15	10,575,024 (GRCm39)	missense	probably damaging	1.00
R5643:Rai14	UTSW	15	10,593,137 (GRCm39)	missense	probably benign	0.03
R5644:Rai14	UTSW	15	10,593,137 (GRCm39)	missense	probably benign	0.03
R5681:Rai14	UTSW	15	10,575,206 (GRCm39)	missense	probably damaging	1.00
R5934:Rai14	UTSW	15	10,575,245 (GRCm39)	missense	probably damaging	0.98
R6333:Rai14	UTSW	15	10,575,022 (GRCm39)	nonsense	probably null
R6338:Rai14	UTSW	15	10,575,062 (GRCm39)	missense	probably damaging	1.00
R6864:Rai14	UTSW	15	10,633,254 (GRCm39)	missense	possibly damaging	0.95
R7015:Rai14	UTSW	15	10,589,401 (GRCm39)	nonsense	probably null
R7155:Rai14	UTSW	15	10,595,089 (GRCm39)	missense	possibly damaging	0.53
R7480:Rai14	UTSW	15	10,571,622 (GRCm39)	missense	probably benign	0.02
R7574:Rai14	UTSW	15	10,593,189 (GRCm39)	missense	probably damaging	1.00
R7578:Rai14	UTSW	15	10,593,189 (GRCm39)	missense	probably damaging	1.00
R7578:Rai14	UTSW	15	10,574,914 (GRCm39)	missense	probably benign
R7597:Rai14	UTSW	15	10,574,937 (GRCm39)	missense	possibly damaging	0.94
R7658:Rai14	UTSW	15	10,593,189 (GRCm39)	missense	probably damaging	1.00
R7779:Rai14	UTSW	15	10,593,112 (GRCm39)	missense	probably damaging	1.00
R7946:Rai14	UTSW	15	10,574,287 (GRCm39)	splice site	probably null
R8171:Rai14	UTSW	15	10,633,249 (GRCm39)	missense	probably damaging	1.00
R8195:Rai14	UTSW	15	10,575,302 (GRCm39)	missense	probably benign
R8471:Rai14	UTSW	15	10,575,245 (GRCm39)	missense	probably benign	0.01
R8485:Rai14	UTSW	15	10,575,122 (GRCm39)	missense	probably damaging	1.00
R9075:Rai14	UTSW	15	10,589,403 (GRCm39)	missense	probably damaging	1.00
R9287:Rai14	UTSW	15	10,592,204 (GRCm39)	missense	probably benign	0.14
R9502:Rai14	UTSW	15	10,587,947 (GRCm39)	missense	possibly damaging	0.50
R9603:Rai14	UTSW	15	10,595,116 (GRCm39)	nonsense	probably null
R9767:Rai14	UTSW	15	10,610,127 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCTAAGGCATTGACTTCGC -3'
(R):5'- GATGCAGCCGAGTACATTCAC -3'

Sequencing Primer
(F):5'- ATTGACTTCGCTCTCCAAGGAGG -3'
(R):5'- TGATGCACGTGTCAAACCTG -3'

Posted On

2022-10-06