Mutagenetix > Incidental Mutation

Incidental Mutation 'R4594:Rdh14'

344276

Institutional Source

Beutler Lab

Gene Symbol

Rdh14

Ensembl Gene

ENSMUSG00000020621

Gene Name

retinol dehydrogenase 14 (all-trans and 9-cis)

Synonyms

PAN2

MMRRC Submission

041810-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

R4594 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

10390772-10395562 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 10394567 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 139 (N139K)

Ref Sequence

ENSEMBL: ENSMUSP00000020947 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002456] [ENSMUST00000020947] [ENSMUST00000118657] [ENSMUST00000147323] [ENSMUST00000217944] [ENSMUST00000218026] [ENSMUST00000218287] [ENSMUST00000218327] [ENSMUST00000220611] [ENSMUST00000218551] [ENSMUST00000218417] [ENSMUST00000219049] [ENSMUST00000220257] [ENSMUST00000218339] [ENSMUST00000219826] [ENSMUST00000223534] [ENSMUST00000219292]

AlphaFold

Q9ERI6

Predicted Effect

probably benign
Transcript: ENSMUST00000002456

SMART Domains

Protein: ENSMUSP00000002456
Gene: ENSMUSG00000020622

Domain	Start	End	E-Value	Type
low complexity region	93	105	N/A	INTRINSIC
low complexity region	137	145	N/A	INTRINSIC
low complexity region	227	233	N/A	INTRINSIC
Pfam:5-nucleotidase	298	570	1.6e-106	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000020947
AA Change: N139K

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

SMART Domains

Protein: ENSMUSP00000020947
Gene: ENSMUSG00000020621
AA Change: N139K

Domain	Start	End	E-Value	Type
transmembrane domain	2	21	N/A	INTRINSIC
Pfam:KR	45	199	3.4e-10	PFAM
Pfam:adh_short	45	258	5.4e-34	PFAM
Pfam:Epimerase	47	248	7.6e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000118657

SMART Domains

Protein: ENSMUSP00000112694
Gene: ENSMUSG00000020622

Domain	Start	End	E-Value	Type
low complexity region	91	103	N/A	INTRINSIC
low complexity region	135	143	N/A	INTRINSIC
low complexity region	225	231	N/A	INTRINSIC
Pfam:5-nucleotidase	280	553	7e-112	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000147323

SMART Domains

Protein: ENSMUSP00000117869
Gene: ENSMUSG00000020622

Domain	Start	End	E-Value	Type
low complexity region	93	105	N/A	INTRINSIC
low complexity region	137	145	N/A	INTRINSIC
low complexity region	227	233	N/A	INTRINSIC
Pfam:5-nucleotidase	298	466	4.8e-62	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000217944

Predicted Effect

probably benign
Transcript: ENSMUST00000218026

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218148

Predicted Effect

probably benign
Transcript: ENSMUST00000218287

Predicted Effect

probably benign
Transcript: ENSMUST00000218288

Predicted Effect

probably benign
Transcript: ENSMUST00000218327

Predicted Effect

probably benign
Transcript: ENSMUST00000220611

Predicted Effect

probably benign
Transcript: ENSMUST00000218551

Predicted Effect

probably benign
Transcript: ENSMUST00000218417

Predicted Effect

probably benign
Transcript: ENSMUST00000219049

Predicted Effect

probably benign
Transcript: ENSMUST00000220257

Predicted Effect

probably benign
Transcript: ENSMUST00000219630

Predicted Effect

probably benign
Transcript: ENSMUST00000218339

Predicted Effect

probably benign
Transcript: ENSMUST00000219826

Predicted Effect

probably benign
Transcript: ENSMUST00000223534

Predicted Effect

probably benign
Transcript: ENSMUST00000219292

Meta Mutation Damage Score

0.9124

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

100% (66/66)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700109H08Rik	A	G	5: 3,575,754	T64A	probably damaging	Het
4933427I04Rik	A	T	4: 123,860,538	T82S	possibly damaging	Het
Adamts15	A	T	9: 30,921,447	I264N	probably damaging	Het
Alpk1	G	A	3: 127,683,554	A285V	probably damaging	Het
Auh	T	C	13: 52,912,966		probably benign	Het
BC030499	T	A	11: 78,291,647	V94D	possibly damaging	Het
Cacna2d3	A	G	14: 28,982,346	F826S	probably benign	Het
Ccdc54	G	T	16: 50,590,017	Y295*	probably null	Het
Ctnna3	G	A	10: 64,586,079	V551I	probably benign	Het
Diaph3	C	T	14: 86,986,037	C347Y	probably damaging	Het
Dnajb5	A	G	4: 42,950,842		probably benign	Het
Dscam	A	T	16: 96,717,996	I847K	possibly damaging	Het
Fam8a1	T	C	13: 46,671,266	F243S	probably damaging	Het
Fat2	T	C	11: 55,284,752	I1712V	possibly damaging	Het
Fgfr1	T	C	8: 25,573,836	V793A	probably damaging	Het
Got2	T	C	8: 95,872,186	E196G	probably benign	Het
Gsk3b	G	A	16: 38,170,701	C107Y	possibly damaging	Het
H2-M5	T	C	17: 36,987,805	T250A	possibly damaging	Het
Il17f	T	A	1: 20,777,802	T151S	probably damaging	Het
Ints12	A	G	3: 133,108,868	N279D	probably benign	Het
Kcnd3	C	T	3: 105,658,766	A421V	probably damaging	Het
Kynu	T	A	2: 43,679,890	S395T	probably benign	Het
Llgl1	C	T	11: 60,706,321	T226I	probably benign	Het
Mael	T	A	1: 166,235,487	Q132L	probably damaging	Het
Mcpt1	A	T	14: 56,018,652	R49S	probably benign	Het
Meioc	G	T	11: 102,674,166	G203C	probably damaging	Het
Mfsd4b1	A	G	10: 40,007,317	S46P	probably benign	Het
Muc6	G	T	7: 141,638,772	T1996N	possibly damaging	Het
Mx2	C	A	16: 97,547,432	Y268*	probably null	Het
Myom1	A	G	17: 71,100,074	D1064G	possibly damaging	Het
Nek11	A	G	9: 105,392,847		probably null	Het
Nfe2	A	G	15: 103,248,805	L253S	probably damaging	Het
Nup205	T	C	6: 35,196,489	I478T	probably benign	Het
Nxpe2	T	C	9: 48,319,482	D529G	probably damaging	Het
Oard1	T	C	17: 48,415,239	S88P	possibly damaging	Het
Olfr1370	C	T	13: 21,072,522	V260I	probably benign	Het
Olfr231	G	T	1: 174,117,320	T232N	probably damaging	Het
Olfr639	T	C	7: 104,012,417	D95G	probably benign	Het
Olfr678	T	C	7: 105,069,590	V41A	probably benign	Het
Olfr732	G	A	14: 50,281,683	T190I	probably benign	Het
Olfr741	A	G	14: 50,486,162	R235G	probably benign	Het
Olfr906	A	C	9: 38,488,761	H244P	probably damaging	Het
Osgin1	C	T	8: 119,445,253	T262I	possibly damaging	Het
Plcb4	A	T	2: 136,002,599	M146L	probably damaging	Het
Prkdc	A	T	16: 15,767,966	E2456V	possibly damaging	Het
Ptk2	G	A	15: 73,206,196	A1004V	probably damaging	Het
Rab15	G	A	12: 76,800,671		probably benign	Het
Rad51ap2	T	C	12: 11,457,880	V601A	probably benign	Het
Rasef	T	A	4: 73,780,389	I12F	possibly damaging	Het
Rexo2	A	T	9: 48,480,417	V46E	probably damaging	Het
Slmap	A	T	14: 26,465,617	L68H	probably damaging	Het
Speer3	C	G	5: 13,796,380	A238G	possibly damaging	Het
Tmem132e	T	C	11: 82,435,068	I206T	possibly damaging	Het
Trappc8	A	T	18: 20,836,948	V995E	probably benign	Het
Vmn2r12	A	C	5: 109,086,435	I637S	probably damaging	Het
Vmn2r124	T	C	17: 18,073,969	F773L	probably damaging	Het
Vmn2r99	A	T	17: 19,393,662	D548V	probably damaging	Het
Wdr81	T	C	11: 75,445,794	N1590D	probably benign	Het
Zbtb6	A	T	2: 37,429,042	N291K	possibly damaging	Het
Zfp119a	G	A	17: 55,866,325	R173C	probably benign	Het
Zmynd15	T	C	11: 70,464,182	L335P	probably damaging	Het

Other mutations in Rdh14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00264:Rdh14	APN	12	10391134	missense	probably damaging	0.98
IGL00928:Rdh14	APN	12	10394803	missense	probably damaging	1.00
IGL02207:Rdh14	APN	12	10394712	missense	possibly damaging	0.81
H8562:Rdh14	UTSW	12	10394709	missense	probably damaging	1.00
R1521:Rdh14	UTSW	12	10394613	missense	probably damaging	1.00
R1943:Rdh14	UTSW	12	10391162	missense	probably benign	0.09
R3980:Rdh14	UTSW	12	10394703	missense	probably benign	0.04
R4289:Rdh14	UTSW	12	10394949	missense	probably benign	0.00
R4414:Rdh14	UTSW	12	10391231	splice site	probably null
R4415:Rdh14	UTSW	12	10391231	splice site	probably null
R4417:Rdh14	UTSW	12	10391231	splice site	probably null
R5397:Rdh14	UTSW	12	10394869	missense	probably damaging	0.99
R6618:Rdh14	UTSW	12	10395123	missense	probably benign	0.24
R8088:Rdh14	UTSW	12	10394551	missense	probably damaging	1.00
R8418:Rdh14	UTSW	12	10394580	missense	probably damaging	0.96
R9651:Rdh14	UTSW	12	10391118	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GACAGTGCTTCAAATAGTTCCCAG -3'
(R):5'- GTTTGCTTCGACTATAACAGAAGC -3'

Sequencing Primer
(F):5'- GTGCTTCAAATAGTTCCCAGATAAAC -3'
(R):5'- GCTCACTGTTCAAGTCTTCAAAG -3'

Posted On

2015-09-25