Mutagenetix > Incidental Mutation

Incidental Mutation 'R1943:Rdh14'

216392

Institutional Source

Beutler Lab

Gene Symbol

Rdh14

Ensembl Gene

ENSMUSG00000020621

Gene Name

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

Synonyms

PAN2, 3110030G19Rik

MMRRC Submission

039961-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R1943 (G1)

Quality Score

179

Status

Not validated

Chromosome

Chromosomal Location

10440772-10445562 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 10441162 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 108 (V108A)

Ref Sequence

ENSEMBL: ENSMUSP00000020947 (fasta)

Gene Model

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

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 benign
Transcript: ENSMUST00000020947
AA Change: V108A

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000020947
Gene: ENSMUSG00000020621
AA Change: V108A

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: ENSMUST00000219630

Predicted Effect

probably benign
Transcript: ENSMUST00000218339

Predicted Effect

probably benign
Transcript: ENSMUST00000220611

Predicted Effect

probably benign
Transcript: ENSMUST00000219049

Predicted Effect

probably benign
Transcript: ENSMUST00000223534

Predicted Effect

probably benign
Transcript: ENSMUST00000219292

Predicted Effect

probably benign
Transcript: ENSMUST00000218551

Predicted Effect

probably benign
Transcript: ENSMUST00000219826

Predicted Effect

probably benign
Transcript: ENSMUST00000218327

Predicted Effect

probably benign
Transcript: ENSMUST00000218417

Predicted Effect

probably benign
Transcript: ENSMUST00000218288

Predicted Effect

probably benign
Transcript: ENSMUST00000220257

Predicted Effect

probably benign
Transcript: ENSMUST00000218287

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	G	6: 121,645,506 (GRCm39)	N1017S	possibly damaging	Het
Abca8a	T	C	11: 109,960,689 (GRCm39)	I610V	probably benign	Het
Acp5	C	T	9: 22,040,900 (GRCm39)	V108M	probably damaging	Het
Adam23	T	C	1: 63,516,916 (GRCm39)		probably null	Het
Adam34	T	A	8: 44,103,864 (GRCm39)	T594S	possibly damaging	Het
Adam34	A	T	8: 44,104,852 (GRCm39)	N264K	probably damaging	Het
Arsa	G	A	15: 89,357,742 (GRCm39)	T407I	probably damaging	Het
Bicc1	A	G	10: 70,995,353 (GRCm39)	S32P	probably damaging	Het
Cacna1i	T	A	15: 80,279,245 (GRCm39)	D1995E	probably benign	Het
Cemip2	G	A	19: 21,825,404 (GRCm39)		probably null	Het
Chst15	A	T	7: 131,864,579 (GRCm39)		probably null	Het
Cntnap4	T	A	8: 113,542,128 (GRCm39)	F754I	probably benign	Het
Cpz	C	T	5: 35,669,772 (GRCm39)	E302K	probably damaging	Het
Daw1	A	T	1: 83,186,987 (GRCm39)	I371F	possibly damaging	Het
Dennd1b	C	A	1: 139,096,690 (GRCm39)		probably benign	Het
Dhtkd1	T	G	2: 5,937,293 (GRCm39)	Q73P	probably benign	Het
Dmgdh	T	C	13: 93,847,878 (GRCm39)	I525T	probably benign	Het
Dst	C	A	1: 34,267,450 (GRCm39)	T4964K	possibly damaging	Het
Ercc3	A	G	18: 32,379,663 (GRCm39)	Y290C	probably damaging	Het
Fh1	C	T	1: 175,437,344 (GRCm39)	V252I	probably benign	Het
Gm13199	C	T	2: 5,867,517 (GRCm39)		probably benign	Het
Il1rn	T	C	2: 24,238,611 (GRCm39)	S82P	possibly damaging	Het
Lama4	T	C	10: 38,973,134 (GRCm39)	V1567A	possibly damaging	Het
Lamtor4	A	G	5: 138,254,054 (GRCm39)		probably null	Het
Llgl1	A	G	11: 60,596,842 (GRCm39)	N148D	probably benign	Het
Lmo7	G	T	14: 102,139,738 (GRCm39)	G774V	probably damaging	Het
Luzp2	A	T	7: 54,914,050 (GRCm39)	K293M	possibly damaging	Het
Mknk1	T	C	4: 115,720,223 (GRCm39)	V83A	probably damaging	Het
Mug2	T	C	6: 122,056,598 (GRCm39)	V1181A	probably benign	Het
Myo16	G	A	8: 10,644,905 (GRCm39)	D1746N	possibly damaging	Het
Or1ad8	A	G	11: 50,898,502 (GRCm39)	I234M	probably benign	Het
Or2aj4	A	T	16: 19,385,187 (GRCm39)	W149R	probably benign	Het
Osbpl3	A	G	6: 50,297,054 (GRCm39)	I548T	probably benign	Het
Parp14	A	G	16: 35,656,499 (GRCm39)	Y1676H	probably damaging	Het
Phtf1	A	T	3: 103,901,198 (GRCm39)	K416*	probably null	Het
Pmp2	T	C	3: 10,247,570 (GRCm39)	T40A	probably benign	Het
Ptpra	T	C	2: 130,386,024 (GRCm39)	M541T	probably damaging	Het
Rapgef6	A	G	11: 54,548,089 (GRCm39)	I753V	possibly damaging	Het
Rnf38	A	T	4: 44,138,748 (GRCm39)	H248Q	probably damaging	Het
Rsph6a	A	C	7: 18,808,001 (GRCm39)	Y388S	probably damaging	Het
Ryr2	T	C	13: 11,746,609 (GRCm39)	D1981G	probably benign	Het
Sf3a3	A	G	4: 124,609,694 (GRCm39)	K97E	possibly damaging	Het
Shisa9	A	G	16: 12,085,620 (GRCm39)	T394A	probably benign	Het
Slc43a2	T	A	11: 75,436,567 (GRCm39)		probably null	Het
Slc45a1	A	G	4: 150,728,734 (GRCm39)	F23S	probably benign	Het
Slc7a10	T	A	7: 34,899,723 (GRCm39)	V435E	probably benign	Het
Snx15	A	G	19: 6,178,096 (GRCm39)	Y28H	probably damaging	Het
Spef2	T	G	15: 9,663,280 (GRCm39)	K834Q	possibly damaging	Het
Tdpoz2	G	T	3: 93,559,230 (GRCm39)	Y247*	probably null	Het
Tedc2	G	A	17: 24,436,923 (GRCm39)	R271W	possibly damaging	Het
Tfr2	C	A	5: 137,577,183 (GRCm39)	H378Q	probably benign	Het
Tigit	T	A	16: 43,469,581 (GRCm39)	H170L	probably benign	Het
Tmem62	A	T	2: 120,817,107 (GRCm39)	Q91L	probably benign	Het
Tmtc1	G	T	6: 148,327,416 (GRCm39)	C32*	probably null	Het
Txndc12	G	A	4: 108,713,407 (GRCm39)	V90I	probably benign	Het
Vmn2r93	C	A	17: 18,546,063 (GRCm39)	T645K	probably benign	Het
Vmn2r96	C	T	17: 18,806,664 (GRCm39)	T345I	probably benign	Het
Vps13d	A	T	4: 144,882,427 (GRCm39)	D1055E	probably benign	Het
Xirp2	A	G	2: 67,342,959 (GRCm39)	I1733M	probably benign	Het
Zfp512b	T	C	2: 181,230,208 (GRCm39)	H516R	probably damaging	Het
Zfp606	T	C	7: 12,227,615 (GRCm39)	S521P	probably damaging	Het
Zfp715	A	T	7: 42,949,054 (GRCm39)	V302E	possibly damaging	Het

Other mutations in Rdh14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00264:Rdh14	APN	12	10,441,134 (GRCm39)	missense	probably damaging	0.98
IGL00928:Rdh14	APN	12	10,444,803 (GRCm39)	missense	probably damaging	1.00
IGL02207:Rdh14	APN	12	10,444,712 (GRCm39)	missense	possibly damaging	0.81
H8562:Rdh14	UTSW	12	10,444,709 (GRCm39)	missense	probably damaging	1.00
R1521:Rdh14	UTSW	12	10,444,613 (GRCm39)	missense	probably damaging	1.00
R3980:Rdh14	UTSW	12	10,444,703 (GRCm39)	missense	probably benign	0.04
R4289:Rdh14	UTSW	12	10,444,949 (GRCm39)	missense	probably benign	0.00
R4414:Rdh14	UTSW	12	10,441,231 (GRCm39)	splice site	probably null
R4415:Rdh14	UTSW	12	10,441,231 (GRCm39)	splice site	probably null
R4417:Rdh14	UTSW	12	10,441,231 (GRCm39)	splice site	probably null
R4594:Rdh14	UTSW	12	10,444,567 (GRCm39)	missense	probably damaging	1.00
R5397:Rdh14	UTSW	12	10,444,869 (GRCm39)	missense	probably damaging	0.99
R6618:Rdh14	UTSW	12	10,445,123 (GRCm39)	missense	probably benign	0.24
R8088:Rdh14	UTSW	12	10,444,551 (GRCm39)	missense	probably damaging	1.00
R8418:Rdh14	UTSW	12	10,444,580 (GRCm39)	missense	probably damaging	0.96
R9651:Rdh14	UTSW	12	10,441,118 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGATCACCGGAGCAAACAG -3'
(R):5'- TAGGACCTCCCAGGAATTCCTTC -3'

Sequencing Primer
(F):5'- GCAAACAGCGGCCTGGG -3'
(R):5'- AGGAATTCCTTCTCAGACCTGC -3'

Posted On

2014-08-01