Mutagenetix > Incidental Mutation

Incidental Mutation 'R1054:Sdr16c6'

94168

Institutional Source

Beutler Lab

Gene Symbol

Sdr16c6

Ensembl Gene

ENSMUSG00000071019

Gene Name

short chain dehydrogenase/reductase family 16C, member 6

Synonyms

4833413O15Rik

MMRRC Submission

039144-MU

Accession Numbers

Essential gene?

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

Stock #

R1054 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4055926-4077514 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4069908 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 144 (V144A)

Ref Sequence

ENSEMBL: ENSMUSP00000104020 (fasta)

Gene Model

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

AlphaFold

Q05A13

Predicted Effect

probably damaging
Transcript: ENSMUST00000095151
AA Change: V144A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000092773
Gene: ENSMUSG00000071019
AA Change: V144A

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 damaging
Transcript: ENSMUST00000108383
AA Change: V144A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000104020
Gene: ENSMUSG00000071019
AA Change: V144A

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: 99.2%
3x: 98.4%
10x: 96.7%
20x: 93.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap39	T	C	15: 76,635,759 (GRCm39)	T159A	probably benign	Het
Arhgef38	T	C	3: 132,822,226 (GRCm39)	Y763C	probably damaging	Het
Arv1	T	A	8: 125,458,611 (GRCm39)	F245Y	probably benign	Het
Ccdc175	A	G	12: 72,225,318 (GRCm39)	I113T	possibly damaging	Het
Cdc42bpb	A	T	12: 111,279,787 (GRCm39)	M932K	probably benign	Het
Cdh15	T	C	8: 123,591,076 (GRCm39)	F442L	possibly damaging	Het
Col28a1	C	T	6: 8,175,534 (GRCm39)	D105N	probably damaging	Het
Cpne4	A	G	9: 104,899,600 (GRCm39)	T428A	probably benign	Het
Cramp1	T	A	17: 25,202,151 (GRCm39)	I444F	probably damaging	Het
Dhx32	T	A	7: 133,327,001 (GRCm39)	K360M	probably damaging	Het
Dna2	T	A	10: 62,799,602 (GRCm39)	C669S	possibly damaging	Het
Dusp8	ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGC	7: 141,635,804 (GRCm39)		probably benign	Het
Eif3f	G	A	7: 108,537,024 (GRCm39)		probably null	Het
Elmod1	T	C	9: 53,820,058 (GRCm39)	D310G	probably benign	Het
Fn1	A	G	1: 71,625,373 (GRCm39)	*2272Q	probably null	Het
Gnat1	A	G	9: 107,554,638 (GRCm39)	S76P	probably damaging	Het
Gtf2f2	T	C	14: 76,232,885 (GRCm39)	T94A	probably benign	Het
Hacd4	A	T	4: 88,341,264 (GRCm39)	W152R	probably damaging	Het
Kcnh8	A	G	17: 53,110,512 (GRCm39)	Y241C	probably damaging	Het
Lepr	T	C	4: 101,639,793 (GRCm39)	I753T	probably damaging	Het
Med12l	C	T	3: 59,156,072 (GRCm39)	H1162Y	probably damaging	Het
Med25	C	T	7: 44,529,804 (GRCm39)	A485T	probably benign	Het
Mup5	A	T	4: 61,750,871 (GRCm39)	S145R	probably benign	Het
Myo1g	A	G	11: 6,468,987 (GRCm39)	V105A	probably damaging	Het
Npc2	A	G	12: 84,807,492 (GRCm39)		probably null	Het
Or52h1	A	G	7: 103,829,498 (GRCm39)	I39T	probably benign	Het
Or6p1	A	G	1: 174,258,419 (GRCm39)	T142A	probably benign	Het
Otulinl	T	C	15: 27,664,635 (GRCm39)	R79G	probably damaging	Het
Pdzd2	A	G	15: 12,371,725 (GRCm39)	S2557P	probably damaging	Het
Pop1	T	C	15: 34,509,955 (GRCm39)	V353A	probably benign	Het
Pou3f2	A	G	4: 22,487,536 (GRCm39)	V199A	possibly damaging	Het
Pramel18	A	G	4: 101,766,361 (GRCm39)	E15G	probably benign	Het
Ptprm	A	T	17: 67,349,313 (GRCm39)	N43K	probably damaging	Het
Qrsl1	C	T	10: 43,758,077 (GRCm39)	D339N	probably damaging	Het
Rpl13-ps3	C	A	14: 59,131,394 (GRCm39)		noncoding transcript	Het
Sdk2	C	T	11: 113,729,472 (GRCm39)		silent	Het
Spata31d1b	C	A	13: 59,865,332 (GRCm39)	H827N	probably damaging	Het
Spata31e4	T	C	13: 50,856,432 (GRCm39)	V690A	probably benign	Het
Taf4b	T	A	18: 14,954,530 (GRCm39)	H535Q	probably benign	Het
Timmdc1	A	G	16: 38,342,790 (GRCm39)	V36A	probably benign	Het
Tmem74b	C	T	2: 151,548,339 (GRCm39)	A22V	probably benign	Het
Txnrd3	T	A	6: 89,627,543 (GRCm39)	Y65*	probably null	Het
Vmn1r200	T	A	13: 22,579,624 (GRCm39)	S133R	probably damaging	Het
Vwf	G	A	6: 125,567,190 (GRCm39)	C311Y	probably damaging	Het
Wipf2	G	A	11: 98,787,141 (GRCm39)	R390H	possibly damaging	Het
Zfp282	T	A	6: 47,881,533 (GRCm39)	S407T	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
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
R6977:Sdr16c6	UTSW	4	4,076,865 (GRCm39)	missense	probably benign
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'- GGCACTTTCCAAAGCCTTAGCCTC -3'
(R):5'- TTGACATGCTGTGTACTCCACAACTAC -3'

Sequencing Primer
(F):5'- AAAGCCTTAGCCTCTAGGCATTG -3'
(R):5'- CCATGTGTCTCTCATTTCTGGGT -3'

Posted On

2014-01-05