Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02668:Sdr9c7'

302812

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sdr9c7

Ensembl Gene

ENSMUSG00000040127

Gene Name

4short chain dehydrogenase/reductase family 9C, member 7

Synonyms

Rdhs, 1810054F20Rik, Rdh20, Sdro, SDR-O

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

IGL02668

Quality Score

Status

Chromosome

Chromosomal Location

127734404-127747630 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 127738267 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 182 (F182L)

Ref Sequence

ENSEMBL: ENSMUSP00000036628 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047134]

AlphaFold

Q8K3P0

Predicted Effect

probably damaging
Transcript: ENSMUST00000047134
AA Change: F182L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000036628
Gene: ENSMUSG00000040127
AA Change: F182L

Domain	Start	End	E-Value	Type
Pfam:adh_short	26	217	3.2e-41	PFAM
Pfam:adh_short_C2	32	226	1.6e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149849

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151614

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155067

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with similarity to the short-chain dehydrogenase/reductase (SDR) family but has not been shown to have retinoid or dehydrogenase activities. [provided by RefSeq, Apr 2010]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930596D02Rik	A	G	14: 35,532,074 (GRCm39)	M167T	probably benign	Het
Abcc4	G	T	14: 118,848,887 (GRCm39)	S488R	probably damaging	Het
Adprm	G	T	11: 66,931,073 (GRCm39)	D230E	possibly damaging	Het
Atp2a3	C	A	11: 72,866,165 (GRCm39)	H262N	probably benign	Het
Bltp3a	A	C	17: 28,105,549 (GRCm39)	I692L	possibly damaging	Het
Ccdc66	T	C	14: 27,219,298 (GRCm39)	K309E	possibly damaging	Het
Cyb561d2	C	T	9: 107,417,371 (GRCm39)	A127T	probably benign	Het
Dctn1	T	A	6: 83,168,030 (GRCm39)	M357K	possibly damaging	Het
Diras2	T	C	13: 52,661,806 (GRCm39)	N167S	probably benign	Het
Dmgdh	T	G	13: 93,840,418 (GRCm39)	V283G	probably damaging	Het
Dmxl2	A	T	9: 54,324,229 (GRCm39)	W1052R	probably damaging	Het
Dnah6	A	T	6: 73,098,806 (GRCm39)	V2083D	possibly damaging	Het
Dnai7	G	T	6: 145,150,983 (GRCm39)	R30S	unknown	Het
Exoc4	T	G	6: 33,898,467 (GRCm39)	F895L	probably benign	Het
Fsip1	G	T	2: 118,082,206 (GRCm39)	A76E	probably benign	Het
Fsip2	A	G	2: 82,828,662 (GRCm39)	I6820V	probably benign	Het
Hdac10	G	A	15: 89,009,847 (GRCm39)	P395L	probably benign	Het
Ing3	A	G	6: 21,950,058 (GRCm39)	D17G	probably damaging	Het
Map3k4	A	T	17: 12,454,840 (GRCm39)	F1383L	possibly damaging	Het
Myct1	C	A	10: 5,554,513 (GRCm39)	P127T	probably damaging	Het
Or52s1	A	T	7: 102,861,942 (GRCm39)	I281F	possibly damaging	Het
Osbpl7	G	T	11: 96,958,031 (GRCm39)	A625S	possibly damaging	Het
Padi2	C	T	4: 140,677,191 (GRCm39)	R660C	probably benign	Het
Paip1	A	T	13: 119,574,607 (GRCm39)	I185F	probably damaging	Het
Pals2	C	T	6: 50,171,509 (GRCm39)	T386I	probably damaging	Het
Phykpl	G	A	11: 51,484,514 (GRCm39)		probably null	Het
Plekhg6	G	A	6: 125,349,766 (GRCm39)		probably benign	Het
Plxna1	A	T	6: 89,334,251 (GRCm39)	L126*	probably null	Het
Rchy1	A	T	5: 92,110,577 (GRCm39)	M1K	probably null	Het
Rfx3	T	C	19: 27,793,014 (GRCm39)		probably benign	Het
Sgpl1	A	C	10: 60,941,229 (GRCm39)	V294G	probably damaging	Het
Sh2b1	A	G	7: 126,071,646 (GRCm39)	S180P	possibly damaging	Het
Sorbs1	T	C	19: 40,303,125 (GRCm39)	D488G	probably damaging	Het
Stab2	A	G	10: 86,682,027 (GRCm39)		probably benign	Het
Sycp1	A	C	3: 102,727,847 (GRCm39)		probably benign	Het
Tmem245	T	C	4: 56,925,081 (GRCm39)	K347E	possibly damaging	Het
Tnk1	A	G	11: 69,747,749 (GRCm39)	M51T	probably damaging	Het
Trpm2	C	T	10: 77,771,776 (GRCm39)	R621H	probably damaging	Het
Ubd	G	T	17: 37,506,420 (GRCm39)	R102L	probably benign	Het
Vmn2r103	G	T	17: 20,014,389 (GRCm39)	A394S	probably benign	Het
Zfp324	T	A	7: 12,704,773 (GRCm39)	C321S	probably damaging	Het
Zfp488	G	T	14: 33,692,777 (GRCm39)	Q129K	probably benign	Het
Zmpste24	T	A	4: 120,918,297 (GRCm39)	N442Y	probably damaging	Het

Other mutations in Sdr9c7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00778:Sdr9c7	APN	10	127,745,697 (GRCm39)	missense	probably damaging	1.00
IGL00857:Sdr9c7	APN	10	127,734,728 (GRCm39)	missense	probably benign
IGL02280:Sdr9c7	APN	10	127,738,287 (GRCm39)	splice site	probably benign
R0047:Sdr9c7	UTSW	10	127,739,541 (GRCm39)	missense	probably benign
R0047:Sdr9c7	UTSW	10	127,739,541 (GRCm39)	missense	probably benign
R0325:Sdr9c7	UTSW	10	127,734,588 (GRCm39)	missense	probably benign	0.00
R0440:Sdr9c7	UTSW	10	127,734,822 (GRCm39)	splice site	probably benign
R1720:Sdr9c7	UTSW	10	127,738,127 (GRCm39)	missense	probably damaging	1.00
R1936:Sdr9c7	UTSW	10	127,739,503 (GRCm39)	missense	probably benign
R4790:Sdr9c7	UTSW	10	127,739,448 (GRCm39)	missense	possibly damaging	0.77
R5145:Sdr9c7	UTSW	10	127,738,259 (GRCm39)	missense	probably damaging	1.00
R5241:Sdr9c7	UTSW	10	127,745,659 (GRCm39)	missense	probably benign	0.43
R6381:Sdr9c7	UTSW	10	127,739,542 (GRCm39)	missense	probably benign	0.25
R8024:Sdr9c7	UTSW	10	127,734,751 (GRCm39)	missense	probably benign	0.01
R8228:Sdr9c7	UTSW	10	127,734,544 (GRCm39)	missense	possibly damaging	0.94
R8939:Sdr9c7	UTSW	10	127,734,776 (GRCm39)	missense	probably benign
R9020:Sdr9c7	UTSW	10	127,745,659 (GRCm39)	missense	possibly damaging	0.94
Z1176:Sdr9c7	UTSW	10	127,738,250 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16