Mutagenetix > Incidental Mutation

Incidental Mutation 'R6977:Sdr16c6'

542494

Institutional Source

Beutler Lab

Gene Symbol

Sdr16c6

Ensembl Gene

ENSMUSG00000071019

Gene Name

short chain dehydrogenase/reductase family 16C, member 6

Synonyms

4833413O15Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R6977 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

4055926-4077514 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 4076865 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 11 (F11L)

Ref Sequence

ENSEMBL: ENSMUSP00000104020 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095151] [ENSMUST00000108383]

AlphaFold

Q05A13

Predicted Effect

probably benign
Transcript: ENSMUST00000095151
AA Change: F11L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000092773
Gene: ENSMUSG00000071019
AA Change: F11L

Domain	Start	End	E-Value	Type
Pfam:KR	37	200	1.1e-14	PFAM
Pfam:adh_short	37	235	1.4e-46	PFAM
Pfam:adh_short_C2	43	211	1.7e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108383
AA Change: F11L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000104020
Gene: ENSMUSG00000071019
AA Change: F11L

Domain	Start	End	E-Value	Type
Pfam:adh_short	37	205	2e-32	PFAM
Pfam:KR	38	200	4.4e-15	PFAM
Pfam:adh_short_C2	43	214	4.1e-14	PFAM
low complexity region	235	241	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921517D22Rik	G	A	13: 59,839,394 (GRCm39)	S17L	possibly damaging	Het
Acap2	G	T	16: 30,936,079 (GRCm39)	T336K	probably damaging	Het
Angptl7	A	T	4: 148,581,850 (GRCm39)	W179R	probably damaging	Het
Atp9b	A	G	18: 80,796,317 (GRCm39)	F909L	probably damaging	Het
BC051665	A	T	13: 60,932,486 (GRCm39)	Y66*	probably null	Het
C8b	A	G	4: 104,644,193 (GRCm39)	T287A	possibly damaging	Het
Camk2a	G	A	18: 61,093,076 (GRCm39)	G301E	probably damaging	Het
Ccdc186	A	G	19: 56,787,219 (GRCm39)	M583T	probably benign	Het
Cd55b	T	A	1: 130,347,528 (GRCm39)	K94N	probably damaging	Het
Celsr3	T	C	9: 108,704,914 (GRCm39)	S466P	probably benign	Het
Cep152	A	G	2: 125,410,742 (GRCm39)		probably null	Het
Cep70	A	G	9: 99,173,729 (GRCm39)	D420G	probably damaging	Het
Cnih4	T	C	1: 180,989,713 (GRCm39)	S48P	possibly damaging	Het
Cpne8	T	C	15: 90,381,294 (GRCm39)	K507E	probably benign	Het
Cyp2b23	T	C	7: 26,380,745 (GRCm39)	Y160C	possibly damaging	Het
Dnah9	C	A	11: 65,998,735 (GRCm39)	M1104I	probably benign	Het
Fam135a	T	A	1: 24,093,179 (GRCm39)	N149I	probably damaging	Het
Fbxl4	A	T	4: 22,376,930 (GRCm39)	Q122L	probably benign	Het
Gm11232	T	C	4: 71,676,178 (GRCm39)		probably benign	Het
Gm5901	A	G	7: 105,026,367 (GRCm39)	Y45C	probably benign	Het
Gsap	A	T	5: 21,476,219 (GRCm39)	I553F	probably damaging	Het
Ifih1	A	G	2: 62,436,530 (GRCm39)	F631S	probably damaging	Het
Kics2	A	G	10: 121,581,371 (GRCm39)	H124R	probably damaging	Het
Kif21a	T	C	15: 90,865,040 (GRCm39)	D544G	probably damaging	Het
Klc2	G	A	19: 5,159,393 (GRCm39)	R552C	probably damaging	Het
Lamp1	T	C	8: 13,223,661 (GRCm39)	V293A	probably damaging	Het
Muc16	T	A	9: 18,556,633 (GRCm39)	D3220V	unknown	Het
Myb	A	T	10: 21,028,551 (GRCm39)	I104K	probably damaging	Het
Mycbp2	C	A	14: 103,392,342 (GRCm39)	R3227L	probably damaging	Het
Ncapd2	A	T	6: 125,148,472 (GRCm39)	L1053Q	probably damaging	Het
Nelfe	T	A	17: 35,073,688 (GRCm39)	V316E	probably damaging	Het
Noxred1	T	C	12: 87,268,091 (GRCm39)	I347V	probably null	Het
Or8g50	A	G	9: 39,648,330 (GRCm39)	Y73C	probably benign	Het
Plekha7	A	G	7: 115,735,202 (GRCm39)	V1033A	probably benign	Het
Plekhh1	G	C	12: 79,112,491 (GRCm39)	W589C	probably damaging	Het
Ppp6r3	A	T	19: 3,517,272 (GRCm39)	F658L	probably damaging	Het
Prss55	A	G	14: 64,316,785 (GRCm39)	M119T	probably damaging	Het
Rab28	G	A	5: 41,855,735 (GRCm39)	Q87*	probably null	Het
Rsf1	GGCG	GGCGACGGCAGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Serpinb5	T	G	1: 106,800,077 (GRCm39)	V89G	probably benign	Het
Slc12a9	A	T	5: 137,314,075 (GRCm39)	V628E	probably damaging	Het
Slc25a34	G	A	4: 141,347,809 (GRCm39)	R291C	probably damaging	Het
Slmap	C	T	14: 26,254,574 (GRCm39)	R36H	probably damaging	Het
Sybu	A	G	15: 44,541,091 (GRCm39)	S324P	probably benign	Het
Syk	A	T	13: 52,787,094 (GRCm39)	M363L	probably benign	Het
Tecpr2	T	C	12: 110,906,200 (GRCm39)	V934A	probably benign	Het
Thpo	A	G	16: 20,544,433 (GRCm39)	L200P	probably damaging	Het
Tiam2	T	A	17: 3,568,934 (GRCm39)	S1693R	probably damaging	Het
Usp48	A	G	4: 137,377,671 (GRCm39)	D232G	probably damaging	Het
Wasf1	A	G	10: 40,802,581 (GRCm39)	S79G	probably damaging	Het
Zfp90	G	T	8: 107,151,948 (GRCm39)	D554Y	probably damaging	Het
Zfp90	A	T	8: 107,151,949 (GRCm39)	D554V	probably damaging	Het
Zic5	T	C	14: 122,696,960 (GRCm39)	T552A	unknown	Het
Zic5	CGACGAGTAG	C	14: 122,696,967 (GRCm39)		probably benign	Het

Other mutations in Sdr16c6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01463:Sdr16c6	APN	4	4,063,238 (GRCm39)	missense	probably damaging	1.00
IGL02801:Sdr16c6	APN	4	4,076,603 (GRCm39)	missense	probably benign	0.00
R0036:Sdr16c6	UTSW	4	4,063,335 (GRCm39)	splice site	probably benign
R1054:Sdr16c6	UTSW	4	4,069,908 (GRCm39)	missense	probably damaging	1.00
R1778:Sdr16c6	UTSW	4	4,058,814 (GRCm39)	missense	probably benign	0.00
R1928:Sdr16c6	UTSW	4	4,069,926 (GRCm39)	missense	probably damaging	0.98
R1930:Sdr16c6	UTSW	4	4,058,809 (GRCm39)	missense	probably benign	0.02
R2385:Sdr16c6	UTSW	4	4,062,671 (GRCm39)	missense	probably damaging	0.99
R4865:Sdr16c6	UTSW	4	4,058,834 (GRCm39)	missense	probably benign
R5342:Sdr16c6	UTSW	4	4,069,923 (GRCm39)	missense	probably damaging	1.00
R5637:Sdr16c6	UTSW	4	4,063,232 (GRCm39)	missense	possibly damaging	0.87
R5841:Sdr16c6	UTSW	4	4,062,728 (GRCm39)	missense	possibly damaging	0.96
R6233:Sdr16c6	UTSW	4	4,069,984 (GRCm39)	missense	probably damaging	1.00
R7423:Sdr16c6	UTSW	4	4,076,921 (GRCm39)	splice site	probably benign
R7460:Sdr16c6	UTSW	4	4,076,575 (GRCm39)	critical splice donor site	probably null
R7623:Sdr16c6	UTSW	4	4,058,801 (GRCm39)	missense	not run
R8220:Sdr16c6	UTSW	4	4,076,872 (GRCm39)	missense	probably benign	0.24
R8338:Sdr16c6	UTSW	4	4,076,620 (GRCm39)	missense	probably damaging	1.00
R9769:Sdr16c6	UTSW	4	4,076,893 (GRCm39)	missense	probably benign	0.26
Z1176:Sdr16c6	UTSW	4	4,063,308 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTCCCAGAGAACTAAAGTGGC -3'
(R):5'- TCACAGTATCTGAAAATGGGTGTTC -3'

Sequencing Primer
(F):5'- AACTAAAGTGGCCCCGTG -3'
(R):5'- TGTTGACATAAGTGTTATCATGCTC -3'

Posted On

2018-11-28