Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01953:Sestd1'

181337

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sestd1

Ensembl Gene

ENSMUSG00000042272

Gene Name

SEC14 and spectrin domains 1

Synonyms

1500031J16Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01953

Quality Score

Status

Chromosome

Chromosomal Location

77010684-77110936 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 77042813 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 247 (V247A)

Ref Sequence

ENSEMBL: ENSMUSP00000099721 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102659] [ENSMUST00000102660]

AlphaFold

Q80UK0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102659
AA Change: V247A

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000099720
Gene: ENSMUSG00000042272
AA Change: V247A

Domain	Start	End	E-Value	Type
Pfam:CRAL_TRIO_2	13	154	2.9e-13	PFAM
SPEC	275	378	3.27e0	SMART
Blast:SPEC	381	494	1e-51	BLAST
SPEC	500	602	5.79e-2	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102660
AA Change: V247A

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000099721
Gene: ENSMUSG00000042272
AA Change: V247A

Domain	Start	End	E-Value	Type
Pfam:CRAL_TRIO_2	27	154	1.5e-9	PFAM
SPEC	275	378	3.27e0	SMART
Blast:SPEC	381	494	1e-51	BLAST
SPEC	500	602	5.79e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139021

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal lethality, short and curly tail, absent genital tubercle, blind-end colon, hydronephrosis, absent bladder and more rounded posterior contour. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anks3	G	A	16: 4,778,408 (GRCm39)	A8V	probably damaging	Het
Atp6v0a4	A	G	6: 38,031,552 (GRCm39)	S650P	probably damaging	Het
B3glct	C	A	5: 149,669,000 (GRCm39)	D311E	probably benign	Het
Cc2d1a	G	A	8: 84,870,607 (GRCm39)	P119S	probably benign	Het
Cdcp3	T	C	7: 130,826,709 (GRCm39)	M261T	probably benign	Het
Chdh	T	C	14: 29,757,304 (GRCm39)	V409A	probably benign	Het
Cipc	T	A	12: 86,999,538 (GRCm39)	V4E	possibly damaging	Het
Dock2	G	T	11: 34,623,183 (GRCm39)	T70K	probably benign	Het
Dpf1	T	C	7: 29,013,732 (GRCm39)	V269A	probably damaging	Het
Drc7	A	T	8: 95,785,753 (GRCm39)	Y203F	probably damaging	Het
Dsg3	C	T	18: 20,658,361 (GRCm39)	T324I	probably damaging	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Iqcd	A	T	5: 120,738,554 (GRCm39)	N124I	probably benign	Het
Kdm7a	T	C	6: 39,123,836 (GRCm39)	N776S	probably benign	Het
Lama5	C	T	2: 179,832,497 (GRCm39)	R1684H	probably damaging	Het
Lrp12	A	T	15: 39,741,497 (GRCm39)	V406D	probably damaging	Het
Lrrc74a	T	A	12: 86,788,494 (GRCm39)	L158Q	probably damaging	Het
Mef2d	C	T	3: 88,063,813 (GRCm39)	T80I	probably damaging	Het
Megf11	T	C	9: 64,597,370 (GRCm39)	C681R	probably damaging	Het
Mex3c	A	G	18: 73,723,104 (GRCm39)	D399G	probably damaging	Het
Muc20	T	C	16: 32,614,073 (GRCm39)	T435A	probably benign	Het
Myo5b	T	C	18: 74,702,838 (GRCm39)	Y10H	possibly damaging	Het
Or12d13	T	C	17: 37,647,766 (GRCm39)	D119G	probably damaging	Het
Or4k40	A	G	2: 111,250,657 (GRCm39)	L213P	probably benign	Het
Otoa	T	A	7: 120,759,548 (GRCm39)		probably null	Het
P4ha2	T	C	11: 54,004,996 (GRCm39)	F124S	probably benign	Het
Phkg2	C	T	7: 127,181,512 (GRCm39)	P232S	probably damaging	Het
Piezo1	T	A	8: 123,217,923 (GRCm39)	Q800L	probably damaging	Het
Pign	C	A	1: 105,516,764 (GRCm39)		probably benign	Het
Pik3r5	A	G	11: 68,384,997 (GRCm39)	D634G	probably benign	Het
Ptpn9	A	G	9: 56,964,072 (GRCm39)	T402A	possibly damaging	Het
Relb	A	C	7: 19,349,482 (GRCm39)		probably null	Het
Scgb1b30	A	G	7: 33,799,302 (GRCm39)	Q78R	probably damaging	Het
Sema6a	C	T	18: 47,423,187 (GRCm39)	W273*	probably null	Het
Specc1	T	A	11: 62,009,122 (GRCm39)	S293T	probably benign	Het
Sptbn2	A	G	19: 4,799,721 (GRCm39)	D2145G	probably benign	Het
Trim43b	T	A	9: 88,967,496 (GRCm39)	D380V	possibly damaging	Het
Vmn1r236	A	G	17: 21,507,473 (GRCm39)	Y197C	possibly damaging	Het
Vmn1r79	A	G	7: 11,910,382 (GRCm39)	Y88C	probably damaging	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Vmn2r61	G	A	7: 41,949,613 (GRCm39)	V678M	probably damaging	Het
Wdfy3	A	T	5: 102,042,894 (GRCm39)	Y1937*	probably null	Het

Other mutations in Sestd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00488:Sestd1	APN	2	77,042,796 (GRCm39)	missense	possibly damaging	0.53
IGL00725:Sestd1	APN	2	77,018,866 (GRCm39)	missense	probably benign
IGL01317:Sestd1	APN	2	77,022,889 (GRCm39)	missense	possibly damaging	0.73
IGL01649:Sestd1	APN	2	77,029,389 (GRCm39)	missense	probably damaging	1.00
IGL02439:Sestd1	APN	2	77,027,174 (GRCm39)	missense	possibly damaging	0.49
R0408:Sestd1	UTSW	2	77,022,137 (GRCm39)	missense	probably damaging	1.00
R0562:Sestd1	UTSW	2	77,061,066 (GRCm39)	missense	probably benign	0.10
R0788:Sestd1	UTSW	2	77,022,060 (GRCm39)	missense	probably damaging	1.00
R1518:Sestd1	UTSW	2	77,071,976 (GRCm39)	missense	probably damaging	1.00
R2119:Sestd1	UTSW	2	77,042,867 (GRCm39)	missense	probably benign	0.00
R4659:Sestd1	UTSW	2	77,042,843 (GRCm39)	missense	probably null	0.75
R5698:Sestd1	UTSW	2	77,048,512 (GRCm39)	missense	possibly damaging	0.90
R5927:Sestd1	UTSW	2	77,017,503 (GRCm39)	missense	probably benign	0.00
R7046:Sestd1	UTSW	2	77,022,910 (GRCm39)	missense	probably benign	0.32
R8361:Sestd1	UTSW	2	77,017,572 (GRCm39)	missense	probably benign	0.15
R8468:Sestd1	UTSW	2	77,022,090 (GRCm39)	missense	probably benign	0.32
R8962:Sestd1	UTSW	2	77,042,708 (GRCm39)	missense	probably benign
R9406:Sestd1	UTSW	2	77,075,421 (GRCm39)	start gained	probably benign
X0023:Sestd1	UTSW	2	77,029,376 (GRCm39)	missense	probably benign	0.05
X0057:Sestd1	UTSW	2	77,048,537 (GRCm39)	missense	possibly damaging	0.95

Posted On

2014-05-07