Mutagenetix > Incidental Mutation

Incidental Mutation 'R1721:Rai14'

191496

Institutional Source

Beutler Lab

Gene Symbol

Rai14

Ensembl Gene

ENSMUSG00000022246

Gene Name

retinoic acid induced 14

Synonyms

1700020L11Rik, Ankycorbin, 1700008J19Rik, Norpeg

MMRRC Submission

039753-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.654) question?

Stock #

R1721 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

10569055-10714710 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 10633314 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Histidine at position 25 (Q25H)

Ref Sequence

ENSEMBL: ENSMUSP00000126325 (fasta)

Gene Model

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

AlphaFold

Q9EP71

Predicted Effect

probably damaging
Transcript: ENSMUST00000090339
AA Change: Q25H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000087815
Gene: ENSMUSG00000022246
AA Change: Q25H

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: Q25H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000126325
Gene: ENSMUSG00000022246
AA Change: Q25H

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

noncoding transcript
Transcript: ENSMUST00000226530

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227464

Predicted Effect

probably damaging
Transcript: ENSMUST00000227506
AA Change: Q25H

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

Meta Mutation Damage Score

0.1157

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

99% (87/88)

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acin1	A	T	14: 54,901,995 (GRCm39)	V559E	probably benign	Het
Adamts20	A	G	15: 94,236,340 (GRCm39)	F844L	probably benign	Het
Adcy5	C	A	16: 35,118,794 (GRCm39)	D1048E	probably damaging	Het
Agrn	A	T	4: 156,259,630 (GRCm39)	C768*	probably null	Het
Aldh18a1	G	T	19: 40,553,282 (GRCm39)	Q487K	probably damaging	Het
Aldh3b1	G	A	19: 3,971,271 (GRCm39)		probably benign	Het
Asb18	T	G	1: 89,896,302 (GRCm39)	D246A	probably benign	Het
Atp2b1	T	C	10: 98,832,750 (GRCm39)	V417A	probably damaging	Het
Bcl2l15	A	G	3: 103,745,914 (GRCm39)		probably null	Het
Brd10	A	T	19: 29,720,998 (GRCm39)	S743T	probably damaging	Het
Cage1	T	A	13: 38,207,309 (GRCm39)	K285*	probably null	Het
Ccn2	A	C	10: 24,472,695 (GRCm39)	T202P	probably damaging	Het
Cldn17	A	G	16: 88,303,444 (GRCm39)	L95P	probably damaging	Het
Cldn20	A	T	17: 3,583,157 (GRCm39)	D110V	probably damaging	Het
Cnot10	T	C	9: 114,444,067 (GRCm39)	T443A	probably benign	Het
Col14a1	T	A	15: 55,310,858 (GRCm39)		probably benign	Het
Col23a1	T	C	11: 51,418,716 (GRCm39)	Y135H	unknown	Het
Cse1l	T	C	2: 166,768,331 (GRCm39)	S210P	probably damaging	Het
Cspg4	T	G	9: 56,796,027 (GRCm39)	V1254G	probably damaging	Het
Dip2c	A	G	13: 9,709,404 (GRCm39)	T1415A	probably damaging	Het
Epc2	A	G	2: 49,422,117 (GRCm39)	Y337C	probably damaging	Het
Epha2	A	G	4: 141,049,963 (GRCm39)	S799G	probably damaging	Het
Fndc10	A	G	4: 155,779,355 (GRCm39)	Y133C	probably damaging	Het
Gli3	G	T	13: 15,900,882 (GRCm39)	S1423I	probably benign	Het
Gm6034	A	T	17: 36,354,045 (GRCm39)		probably benign	Het
Gmip	A	G	8: 70,263,882 (GRCm39)	S109G	probably damaging	Het
Grik2	C	A	10: 49,399,842 (GRCm39)	W296L	possibly damaging	Het
Gucy2d	T	A	7: 98,103,268 (GRCm39)	L504H	probably damaging	Het
Il6	T	A	5: 30,218,490 (GRCm39)	Y46N	possibly damaging	Het
Ints8	C	A	4: 11,241,684 (GRCm39)	C253F	probably damaging	Het
Itga9	A	G	9: 118,527,374 (GRCm39)		probably benign	Het
Kcna7	T	C	7: 45,056,345 (GRCm39)	V187A	possibly damaging	Het
Kdm5b	G	T	1: 134,540,919 (GRCm39)		probably benign	Het
Knl1	T	G	2: 118,906,815 (GRCm39)	S1635A	probably damaging	Het
Lce1b	A	G	3: 92,563,318 (GRCm39)	S72P	unknown	Het
Lox	T	G	18: 52,653,983 (GRCm39)		probably null	Het
Mdc1	A	G	17: 36,158,718 (GRCm39)	D366G	possibly damaging	Het
Meiob	T	C	17: 25,053,021 (GRCm39)	C344R	probably damaging	Het
Mier2	A	G	10: 79,384,664 (GRCm39)	V150A	probably damaging	Het
Mon2	A	T	10: 122,867,002 (GRCm39)	M551K	probably damaging	Het
Mrps15	A	G	4: 125,945,187 (GRCm39)	T125A	probably benign	Het
Mtmr14	A	G	6: 113,230,693 (GRCm39)	H99R	probably damaging	Het
Mup4	A	G	4: 59,960,598 (GRCm39)	M1T	probably null	Het
Mup5	G	A	4: 61,750,607 (GRCm39)	R179*	probably null	Het
Ncoa3	T	G	2: 165,911,221 (GRCm39)	V1326G	possibly damaging	Het
Noa1	A	T	5: 77,455,428 (GRCm39)	N429K	probably benign	Het
Nrxn1	C	T	17: 90,469,832 (GRCm39)	A241T	probably damaging	Het
Or1p1	A	T	11: 74,180,126 (GRCm39)	Y218F	probably damaging	Het
Or2t49	C	T	11: 58,392,765 (GRCm39)	V206M	probably damaging	Het
Pcdh9	G	A	14: 94,125,471 (GRCm39)	S233L	probably damaging	Het
Peg3	C	A	7: 6,712,900 (GRCm39)	S774I	possibly damaging	Het
Phyh	A	G	2: 4,942,620 (GRCm39)	K321R	probably null	Het
Plcg1	T	A	2: 160,573,840 (GRCm39)	M35K	probably damaging	Het
Pnisr	C	T	4: 21,874,086 (GRCm39)		probably benign	Het
Ppargc1b	T	A	18: 61,440,275 (GRCm39)		probably null	Het
Prcd	A	C	11: 116,548,371 (GRCm39)	S27R	probably benign	Het
Prx	T	A	7: 27,216,948 (GRCm39)	M622K	probably benign	Het
Psmd1	T	A	1: 85,999,567 (GRCm39)	D51E	probably damaging	Het
Psmd13	C	T	7: 140,463,430 (GRCm39)	T38I	probably damaging	Het
Ptprf	A	C	4: 118,082,096 (GRCm39)	D1047E	possibly damaging	Het
Riiad1	G	A	3: 94,380,176 (GRCm39)	P40S	possibly damaging	Het
Rnft1	T	A	11: 86,377,096 (GRCm39)	N53K	probably benign	Het
Scn4a	C	T	11: 106,211,646 (GRCm39)	R1457H	probably benign	Het
Sema6c	A	T	3: 95,078,099 (GRCm39)	I492F	probably damaging	Het
Shbg	T	C	11: 69,505,798 (GRCm39)	H403R	probably damaging	Het
Slc15a5	A	T	6: 138,049,845 (GRCm39)		probably benign	Het
Slc38a1	G	A	15: 96,485,016 (GRCm39)	T221M	probably damaging	Het
Slc6a16	T	A	7: 44,910,600 (GRCm39)	V375E	possibly damaging	Het
Slc6a17	T	A	3: 107,379,492 (GRCm39)	M559L	probably damaging	Het
Slmap	A	G	14: 26,181,373 (GRCm39)		probably benign	Het
Sorcs2	G	A	5: 36,184,092 (GRCm39)	R965W	probably damaging	Het
St8sia4	C	A	1: 95,581,394 (GRCm39)	R116L	probably damaging	Het
Tcaf1	A	C	6: 42,652,272 (GRCm39)	S737A	possibly damaging	Het
Thbs2	T	A	17: 14,899,072 (GRCm39)	Y676F	probably benign	Het
Tmod2	A	G	9: 75,493,324 (GRCm39)		probably benign	Het
Trim75	T	C	8: 65,435,391 (GRCm39)		probably null	Het
Ubr5	A	T	15: 38,042,090 (GRCm39)	S169T	probably benign	Het
Usp54	A	T	14: 20,633,508 (GRCm39)	Y37*	probably null	Het
Vill	T	C	9: 118,895,082 (GRCm39)	F100S	probably damaging	Het
Vstm5	A	G	9: 15,168,663 (GRCm39)	R76G	probably benign	Het
Zfp608	T	C	18: 55,032,321 (GRCm39)	T540A	probably benign	Het
Zfp947	A	C	17: 22,365,184 (GRCm39)	N163K	probably benign	Het
Zfyve26	T	C	12: 79,308,573 (GRCm39)	H228R	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
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
R9665:Rai14	UTSW	15	10,574,803 (GRCm39)	missense	probably damaging	1.00
R9767:Rai14	UTSW	15	10,610,127 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACAGACCCAGACACGTTTTCGC -3'
(R):5'- GCTGACCCCATAGTCCTACATTGC -3'

Sequencing Primer
(F):5'- TCCCCTTGATGAATAAGTCAGC -3'
(R):5'- ACATTGCTTCATCTTCTGAAGGG -3'

Posted On

2014-05-14