Mutagenetix > Incidental Mutation

Incidental Mutation 'R7779:Rai14'

599114

Institutional Source

Beutler Lab

Gene Symbol

Rai14

Ensembl Gene

ENSMUSG00000022246

Gene Name

retinoic acid induced 14

Synonyms

1700008J19Rik, 1700020L11Rik, Ankycorbin, Norpeg

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.396) question?

Stock #

R7779 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

10568969-10714624 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 10593026 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 177 (D177E)

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: D177E

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

SMART Domains

Protein: ENSMUSP00000087815
Gene: ENSMUSG00000022246
AA Change: D177E

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: D177E

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

SMART Domains

Protein: ENSMUSP00000126325
Gene: ENSMUSG00000022246
AA Change: D177E

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: D177E

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (92/94)

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	T	A	10: 29,225,320	V563E	probably damaging	Het
Adra1d	A	G	2: 131,561,885	V95A	probably damaging	Het
Ak7	A	C	12: 105,742,350	I355L	probably benign	Het
Ank1	G	A	8: 23,096,747		probably null	Het
Apol7c	A	T	15: 77,525,746	H333Q	probably damaging	Het
Arfgef3	T	C	10: 18,595,023	M1665V	probably damaging	Het
Arid5b	A	G	10: 68,096,776	Y1099H	probably damaging	Het
Atp8b1	A	G	18: 64,541,382	S943P	probably damaging	Het
BC005537	C	T	13: 24,803,399	R7W	possibly damaging	Het
Bcl2l2	C	T	14: 54,884,379		probably benign	Het
Bco1	A	G	8: 117,117,396	Y283C	probably damaging	Het
Brd4	A	T	17: 32,212,936	D652E	probably benign	Het
Cacna1s	G	A	1: 136,119,029	A1799T	probably damaging	Het
Camsap3	A	G	8: 3,597,887	Y65C	probably damaging	Het
Capn1	T	C	19: 5,994,086	K535E	probably benign	Het
Cbl	A	G	9: 44,159,096	S480P	probably benign	Het
Cfap99	A	C	5: 34,311,664	N294T	probably benign	Het
Defa24	A	C	8: 21,735,339	S82R	probably benign	Het
Dnaic2	T	C	11: 114,754,409	F557L	possibly damaging	Het
Dnhd1	T	A	7: 105,677,915	H690Q	probably benign	Het
Dock2	A	G	11: 34,714,455	V279A	probably benign	Het
Dst	T	A	1: 34,194,597	V3462E	probably damaging	Het
E2f3	T	G	13: 29,918,615	H221P	probably damaging	Het
Eif2b4	A	T	5: 31,190,654	I238N	probably damaging	Het
Eno4	T	C	19: 58,968,543	S530P	probably benign	Het
Epb42	T	G	2: 121,034,435	K58N	probably benign	Het
Etl4	C	T	2: 20,709,477	T129I	probably damaging	Het
Extl1	A	G	4: 134,357,703	F652S	probably damaging	Het
Extl1	T	C	4: 134,360,597	K449E	probably benign	Het
F13b	T	A	1: 139,516,386	V486E	probably benign	Het
Fbln2	T	A	6: 91,233,194	L40Q	probably damaging	Het
Glp2r	C	T	11: 67,709,783	W413*	probably null	Het
Grin2b	A	T	6: 135,778,794	Y507*	probably null	Het
H2-M11	G	T	17: 36,548,806	L230F	probably benign	Het
Il1f6	T	C	2: 24,216,601	Y66H	probably damaging	Het
Itpr1	A	G	6: 108,523,348	E2634G	possibly damaging	Het
Itpr3	A	T	17: 27,096,063	Y728F	probably damaging	Het
Jak1	C	T	4: 101,160,142	E764K	probably benign	Het
Jak3	G	T	8: 71,687,288	R1045L	probably benign	Het
Jam2	T	C	16: 84,809,383	I95T	probably damaging	Het
Kdf1	T	C	4: 133,528,485	V171A	probably damaging	Het
Lactbl1	A	T	4: 136,630,996	K93*	probably null	Het
Lcn6	T	C	2: 25,680,793	V131A	probably benign	Het
Lpar5	T	A	6: 125,082,244	D309E	probably damaging	Het
Lrfn4	T	C	19: 4,613,687	E273G	probably damaging	Het
Lta4h	C	T	10: 93,474,949	T447I	probably benign	Het
Lyst	A	G	13: 13,634,543	E266G	probably damaging	Het
Mab21l1	A	T	3: 55,783,375	I128F	possibly damaging	Het
Mrgprb4	T	G	7: 48,199,147	N11T	probably benign	Het
Mroh6	G	A	15: 75,888,656	T23I	possibly damaging	Het
Myo1f	T	C	17: 33,578,273	I143T	probably benign	Het
Myof	C	T	19: 37,939,390	D1092N	probably damaging	Het
Ncan	G	T	8: 70,115,011	D150E	probably damaging	Het
Olfr1392	T	A	11: 49,294,221	L300Q	probably damaging	Het
Olfr412	T	A	11: 74,364,945	I92N	probably damaging	Het
Olfr794	A	T	10: 129,571,311	I219F	probably damaging	Het
Pcm1	A	G	8: 41,329,024	Y1948C	probably damaging	Het
Pcsk6	A	T	7: 66,025,404	T669S	probably benign	Het
Pdlim5	A	C	3: 142,242,686	N613K	probably benign	Het
Pdzk1	T	A	3: 96,857,273	V291D	probably damaging	Het
Plbd2	T	C	5: 120,487,678	Q408R	probably damaging	Het
Ppp1r37	C	A	7: 19,532,787	A392S	possibly damaging	Het
Proser2	T	A	2: 6,103,067		probably null	Het
Psmd12	T	C	11: 107,497,579	V406A	probably benign	Het
Rab3gap2	T	C	1: 185,259,444	V709A	probably damaging	Het
Radil	T	C	5: 142,487,565	E787G	probably benign	Het
Rbms2	G	A	10: 128,143,446	T166I	probably damaging	Het
Rrh	C	T	3: 129,815,320	C115Y	probably benign	Het
Slc1a6	C	T	10: 78,795,955	T205I	probably damaging	Het
Sost	T	C	11: 101,966,849	E42G	possibly damaging	Het
Spcs3	T	A	8: 54,529,770	I46F	possibly damaging	Het
Spg11	A	G	2: 122,070,939	S1507P	probably damaging	Het
Sprtn	C	T	8: 124,898,243	P29L	possibly damaging	Het
Sptan1	C	T	2: 30,021,307	T1886I	probably damaging	Het
Strn4	T	C	7: 16,831,492	F394S	probably damaging	Het
Syt14	A	T	1: 192,984,443	M51K	unknown	Het
Terb2	A	G	2: 122,186,494	K32R	probably benign	Het
Tex15	G	A	8: 33,575,281	G1580R	probably damaging	Het
Thumpd3	T	C	6: 113,059,989	V283A	probably damaging	Het
Tm7sf2	T	C	19: 6,062,917	Y418C	possibly damaging	Het
Trim24	T	G	6: 37,919,397	F263C	probably damaging	Het
Trim24	T	A	6: 37,919,398	F263L	probably damaging	Het
Trip11	A	G	12: 101,883,537	S1423P	probably damaging	Het
Vps13c	G	A	9: 67,881,422	V326M	probably damaging	Het
Vps37c	T	C	19: 10,712,624	V150A	probably damaging	Het
Wdr90	C	T	17: 25,846,326	R1652Q	probably damaging	Het
Wfdc9	A	G	2: 164,650,596	V37A	probably damaging	Het
Yif1b	T	A	7: 29,245,903	M227K	probably damaging	Het
Zbtb18	T	C	1: 177,446,939		probably benign	Het
Zfp318	A	G	17: 46,399,894	T848A	probably benign	Het
Zfp808	T	A	13: 62,172,757	I600K	possibly damaging	Het
Zmym1	C	A	4: 127,054,245	S111I	probably benign	Het
Zmym2	A	G	14: 56,928,283	T688A	probably damaging	Het

Other mutations in Rai14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01107:Rai14	APN	15	10599711	splice site	probably benign
IGL01625:Rai14	APN	15	10572374	missense	probably benign	0.30
IGL01925:Rai14	APN	15	10595862	missense	possibly damaging	0.88
IGL02053:Rai14	APN	15	10633156	missense	probably benign	0.00
IGL02531:Rai14	APN	15	10574782	missense	probably damaging	1.00
IGL02748:Rai14	APN	15	10589335	missense	probably benign	0.14
IGL02945:Rai14	APN	15	10574709	missense	probably benign	0.00
PIT4618001:Rai14	UTSW	15	10575156	missense	probably damaging	1.00
R1400:Rai14	UTSW	15	10571548	missense	probably damaging	0.98
R1583:Rai14	UTSW	15	10587916	missense	probably damaging	1.00
R1686:Rai14	UTSW	15	10592196	missense	probably damaging	0.98
R1721:Rai14	UTSW	15	10633228	missense	probably damaging	1.00
R1867:Rai14	UTSW	15	10633228	missense	probably damaging	1.00
R1868:Rai14	UTSW	15	10633228	missense	probably damaging	1.00
R1998:Rai14	UTSW	15	10594981	splice site	probably null
R2118:Rai14	UTSW	15	10575166	missense	probably benign	0.00
R3161:Rai14	UTSW	15	10633164	missense	possibly damaging	0.74
R3162:Rai14	UTSW	15	10633164	missense	possibly damaging	0.74
R3162:Rai14	UTSW	15	10633164	missense	possibly damaging	0.74
R4049:Rai14	UTSW	15	10592212	missense	probably benign	0.30
R4611:Rai14	UTSW	15	10592138	missense	probably damaging	1.00
R4760:Rai14	UTSW	15	10575690	missense	possibly damaging	0.60
R4863:Rai14	UTSW	15	10572470	missense	probably damaging	0.99
R5022:Rai14	UTSW	15	10574506	missense	probably damaging	0.96
R5110:Rai14	UTSW	15	10690410	start gained	probably benign
R5410:Rai14	UTSW	15	10574938	missense	probably damaging	1.00
R5643:Rai14	UTSW	15	10593051	missense	probably benign	0.03
R5644:Rai14	UTSW	15	10593051	missense	probably benign	0.03
R5681:Rai14	UTSW	15	10575120	missense	probably damaging	1.00
R5934:Rai14	UTSW	15	10575159	missense	probably damaging	0.98
R6333:Rai14	UTSW	15	10574936	nonsense	probably null
R6338:Rai14	UTSW	15	10574976	missense	probably damaging	1.00
R6864:Rai14	UTSW	15	10633168	missense	possibly damaging	0.95
R7015:Rai14	UTSW	15	10589315	nonsense	probably null
R7155:Rai14	UTSW	15	10595003	missense	possibly damaging	0.53
R7480:Rai14	UTSW	15	10571536	missense	probably benign	0.02
R7574:Rai14	UTSW	15	10593103	missense	probably damaging	1.00
R7578:Rai14	UTSW	15	10574828	missense	probably benign
R7578:Rai14	UTSW	15	10593103	missense	probably damaging	1.00
R7597:Rai14	UTSW	15	10574851	missense	possibly damaging	0.94
R7658:Rai14	UTSW	15	10593103	missense	probably damaging	1.00
R7946:Rai14	UTSW	15	10574201	splice site	probably null
R8171:Rai14	UTSW	15	10633163	missense	probably damaging	1.00
R8195:Rai14	UTSW	15	10575216	missense	probably benign
R8471:Rai14	UTSW	15	10575159	missense	probably benign	0.01
R8485:Rai14	UTSW	15	10575036	missense	probably damaging	1.00
R9075:Rai14	UTSW	15	10589317	missense	probably damaging	1.00
R9287:Rai14	UTSW	15	10592118	missense	probably benign	0.14
R9502:Rai14	UTSW	15	10587861	missense	possibly damaging	0.50
R9603:Rai14	UTSW	15	10595030	nonsense	probably null
R9665:Rai14	UTSW	15	10574717	missense	probably damaging	1.00
R9767:Rai14	UTSW	15	10610041	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TTCTGCCCATGGAGATCTGG -3'
(R):5'- TCAAGTGTAATGGTGGCCC -3'

Sequencing Primer
(F):5'- CCTCAATTACCAGGAAGGTAG -3'
(R):5'- CCTAAGGGGGCCTAGAATATCAC -3'

Posted On

2019-11-26