Mutagenetix > Incidental Mutation

Incidental Mutation 'R8305:Rdh16f2'

641018

Institutional Source

Beutler Lab

Gene Symbol

Rdh16f2

Ensembl Gene

ENSMUSG00000074639

Gene Name

RDH16 family member 2

Synonyms

BC089597

MMRRC Submission

067716-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8305 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

127702345-127713188 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 127712864 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 287 (D287E)

Ref Sequence

ENSEMBL: ENSMUSP00000089691 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092058]

AlphaFold

Q8K3M1

Predicted Effect

probably damaging
Transcript: ENSMUST00000092058
AA Change: D287E

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

SMART Domains

Protein: ENSMUSP00000089691
Gene: ENSMUSG00000074639
AA Change: D287E

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Pfam:adh_short	30	221	4.8e-44	PFAM
Pfam:KR	31	206	4e-7	PFAM
Pfam:DUF1776	43	304	6.8e-10	PFAM

Meta Mutation Damage Score

0.6329

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

98% (65/66)

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I06Rik	C	T	14: 64,208,844 (GRCm39)	E243K	possibly damaging	Het
Accsl	A	T	2: 93,696,423 (GRCm39)	H58Q	probably benign	Het
Actl7a	T	A	4: 56,743,744 (GRCm39)	F90L	probably benign	Het
Adam5	G	A	8: 25,300,719 (GRCm39)	A270V	possibly damaging	Het
Angptl3	A	G	4: 98,919,548 (GRCm39)	T103A	probably damaging	Het
Ankhd1	T	C	18: 36,780,219 (GRCm39)	L1757P	possibly damaging	Het
Apoa4	T	A	9: 46,152,453 (GRCm39)	M1K	probably null	Het
Arih1	T	A	9: 59,303,770 (GRCm39)	Q445L	probably benign	Het
Asb14	A	T	14: 26,634,054 (GRCm39)	I420L	probably benign	Het
Bbs2	A	C	8: 94,800,953 (GRCm39)	V626G	probably damaging	Het
Cep290	C	A	10: 100,380,796 (GRCm39)	A1678D	probably benign	Het
Cilp	G	A	9: 65,186,286 (GRCm39)	G794S	probably damaging	Het
Clca3a1	C	T	3: 144,464,927 (GRCm39)		probably benign	Het
Clca3b	T	A	3: 144,531,698 (GRCm39)	N702I	probably damaging	Het
Col24a1	T	C	3: 145,179,937 (GRCm39)	V1143A	probably benign	Het
Cux1	T	C	5: 136,388,863 (GRCm39)	T223A	probably benign	Het
Defa30	A	T	8: 21,625,475 (GRCm39)	T80S	probably benign	Het
Dennd1a	G	A	2: 37,748,093 (GRCm39)	L375F	probably damaging	Het
Dnajc6	C	T	4: 101,480,984 (GRCm39)	T675I	probably damaging	Het
Emc9	A	G	14: 55,822,556 (GRCm39)	V4A	probably damaging	Het
Enpp3	C	G	10: 24,700,827 (GRCm39)		probably null	Het
Fam117b	A	G	1: 59,952,782 (GRCm39)	T154A	probably benign	Het
Filip1	G	T	9: 79,727,757 (GRCm39)	Y287*	probably null	Het
Flt3	T	C	5: 147,284,864 (GRCm39)	D751G	probably damaging	Het
Frem1	T	A	4: 82,918,226 (GRCm39)	Q572L	probably benign	Het
Gja10	G	A	4: 32,602,441 (GRCm39)		probably benign	Het
Gm39115	A	G	7: 141,689,360 (GRCm39)	C138R	unknown	Het
Gm7356	T	A	17: 14,221,699 (GRCm39)	Y110F	probably benign	Het
Igf2r	T	C	17: 12,952,747 (GRCm39)	K233R	probably benign	Het
Igkv9-129	A	T	6: 67,817,206 (GRCm39)	E103D	probably benign	Het
Igsf11	C	A	16: 38,827,586 (GRCm39)	T48N	probably damaging	Het
Itpkc	A	T	7: 26,913,944 (GRCm39)	Y506N	probably damaging	Het
Kat2a	A	C	11: 100,600,304 (GRCm39)	M357R	possibly damaging	Het
Kbtbd12	T	C	6: 88,595,132 (GRCm39)	R233G	possibly damaging	Het
Kcnd2	T	A	6: 21,726,197 (GRCm39)	C563*	probably null	Het
Kcnu1	T	C	8: 26,382,018 (GRCm39)	V456A	probably benign	Het
Kif24	A	G	4: 41,428,825 (GRCm39)	V45A	probably damaging	Het
Macf1	A	T	4: 123,289,414 (GRCm39)		probably benign	Het
Map3k19	T	A	1: 127,745,007 (GRCm39)	E1177D		Het
Mdn1	G	T	4: 32,725,107 (GRCm39)	L2575F	probably benign	Het
Mga	T	A	2: 119,776,800 (GRCm39)	M1569K	possibly damaging	Het
Mvk	T	C	5: 114,588,840 (GRCm39)	Y161H	probably damaging	Het
Or10al3	T	A	17: 38,012,389 (GRCm39)	M276K	probably benign	Het
Or14c44	G	T	7: 86,061,987 (GRCm39)	C139F	probably damaging	Het
Or2n1	C	A	17: 38,486,464 (GRCm39)	T163K	probably damaging	Het
Pcdhb14	T	A	18: 37,583,075 (GRCm39)	V727E	possibly damaging	Het
Pcsk7	T	G	9: 45,821,707 (GRCm39)	V167G	probably damaging	Het
Plin5	T	C	17: 56,422,221 (GRCm39)	D146G	probably benign	Het
Plxna4	C	T	6: 32,188,000 (GRCm39)	G879R	possibly damaging	Het
Prss58	C	T	6: 40,872,594 (GRCm39)	A171T	probably benign	Het
Pum1	A	G	4: 130,499,231 (GRCm39)	I1016V	probably benign	Het
Rbm43	A	G	2: 51,816,712 (GRCm39)	V85A	probably damaging	Het
Rptor	T	A	11: 119,702,812 (GRCm39)	L393Q	probably damaging	Het
Sbf2	T	G	7: 109,970,825 (GRCm39)	H857P	possibly damaging	Het
Scn8a	A	C	15: 100,938,387 (GRCm39)	T1919P	probably benign	Het
Sema6b	C	T	17: 56,434,084 (GRCm39)	G377E	probably damaging	Het
Senp7	T	A	16: 55,975,603 (GRCm39)	D436E	probably damaging	Het
Slc6a17	T	A	3: 107,380,901 (GRCm39)	I535F	probably benign	Het
Sptbn2	T	A	19: 4,779,158 (GRCm39)	S281T	possibly damaging	Het
Stt3b	T	C	9: 115,083,999 (GRCm39)	I392M	probably damaging	Het
Tfap2b	T	C	1: 19,296,660 (GRCm39)	V201A	possibly damaging	Het
Timm10b	T	C	7: 105,289,876 (GRCm39)		probably benign	Het
Ttc23	A	C	7: 67,312,135 (GRCm39)	D14A	probably damaging	Het
Usp32	A	T	11: 84,923,011 (GRCm39)	L636I	possibly damaging	Het
Vgll4	G	T	6: 114,867,613 (GRCm39)	H79Q	probably damaging	Het
Vps13d	A	G	4: 144,818,858 (GRCm39)	I3047T		Het
Zan	T	C	5: 137,448,813 (GRCm39)	E1680G	unknown	Het

Other mutations in Rdh16f2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00432:Rdh16f2	APN	10	127,702,533 (GRCm39)	missense	probably damaging	1.00
IGL00780:Rdh16f2	APN	10	127,710,961 (GRCm39)	critical splice donor site	probably null
R1448:Rdh16f2	UTSW	10	127,712,794 (GRCm39)	missense	probably benign
R1757:Rdh16f2	UTSW	10	127,712,765 (GRCm39)	missense	probably benign	0.01
R2245:Rdh16f2	UTSW	10	127,712,145 (GRCm39)	missense	probably damaging	1.00
R2484:Rdh16f2	UTSW	10	127,710,946 (GRCm39)	missense	probably damaging	1.00
R3613:Rdh16f2	UTSW	10	127,710,808 (GRCm39)	missense	probably benign	0.38
R4828:Rdh16f2	UTSW	10	127,710,823 (GRCm39)	missense	probably benign	0.09
R5109:Rdh16f2	UTSW	10	127,702,672 (GRCm39)	missense	probably damaging	1.00
R5153:Rdh16f2	UTSW	10	127,712,124 (GRCm39)	missense	possibly damaging	0.96
R5420:Rdh16f2	UTSW	10	127,712,943 (GRCm39)	missense	possibly damaging	0.94
R5448:Rdh16f2	UTSW	10	127,712,932 (GRCm39)	missense	probably benign	0.03
R5492:Rdh16f2	UTSW	10	127,702,623 (GRCm39)	nonsense	probably null
R5769:Rdh16f2	UTSW	10	127,712,758 (GRCm39)	missense	probably benign	0.01
R5863:Rdh16f2	UTSW	10	127,712,256 (GRCm39)	missense	probably benign
R6003:Rdh16f2	UTSW	10	127,712,201 (GRCm39)	missense	probably benign	0.02
R6063:Rdh16f2	UTSW	10	127,712,743 (GRCm39)	missense	probably benign	0.01
R7365:Rdh16f2	UTSW	10	127,712,893 (GRCm39)	missense	probably damaging	0.98
R7446:Rdh16f2	UTSW	10	127,712,767 (GRCm39)	missense	probably benign
R8911:Rdh16f2	UTSW	10	127,712,812 (GRCm39)	missense	probably damaging	1.00
R9357:Rdh16f2	UTSW	10	127,712,915 (GRCm39)	missense	possibly damaging	0.62
X0023:Rdh16f2	UTSW	10	127,702,675 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTAGACACGTGGACTCTCCC -3'
(R):5'- TGGGCTGAGAACAGGAATCTTC -3'

Sequencing Primer
(F):5'- CTCCTCTATGCTGGTATGAGACAG -3'
(R):5'- CTAGCTTTCACAGGGCTT -3'

Posted On

2020-07-28