Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01317:Sestd1'

73912

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 #

IGL01317

Quality Score

Status

Chromosome

Chromosomal Location

77010684-77110936 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 77022889 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 493 (M493K)

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: M493K

PolyPhen 2 Score 0.727 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000099720
Gene: ENSMUSG00000042272
AA Change: M493K

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: M493K

PolyPhen 2 Score 0.727 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000099721
Gene: ENSMUSG00000042272
AA Change: M493K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145366

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam32	A	T	8: 25,362,597 (GRCm39)	D609E	probably damaging	Het
Aldh3b1	T	C	19: 3,968,104 (GRCm39)	I352V	probably benign	Het
Apeh	A	T	9: 107,963,406 (GRCm39)	S605R	probably benign	Het
Arhgap32	A	G	9: 32,168,260 (GRCm39)	K748E	probably benign	Het
Avpr1a	T	C	10: 122,285,472 (GRCm39)	S255P	probably benign	Het
Cadps2	T	A	6: 23,314,172 (GRCm39)	D1124V	possibly damaging	Het
Cask	C	T	X: 13,388,499 (GRCm39)	E83K	probably damaging	Het
Cep170b	A	G	12: 112,704,078 (GRCm39)	Y670C	probably damaging	Het
Chd3	A	G	11: 69,244,037 (GRCm39)	Y1343H	probably damaging	Het
Cit	T	A	5: 116,046,775 (GRCm39)	V396D	probably benign	Het
Cldn18	T	C	9: 99,578,135 (GRCm39)	T203A	probably benign	Het
Dido1	A	C	2: 180,313,550 (GRCm39)	N907K	probably benign	Het
Dmbt1	T	A	7: 130,642,921 (GRCm39)	D246E	probably damaging	Het
Dph1	T	C	11: 75,071,486 (GRCm39)	H303R	probably benign	Het
Dspp	T	A	5: 104,321,914 (GRCm39)	Y8N	probably damaging	Het
Efhc2	C	T	X: 17,071,198 (GRCm39)		probably benign	Het
Fam171a1	T	A	2: 3,203,663 (GRCm39)	V215E	probably damaging	Het
Fhip1a	T	C	3: 85,580,153 (GRCm39)	D684G	probably benign	Het
Foxm1	T	A	6: 128,344,316 (GRCm39)	M22K	probably damaging	Het
Gdpd4	A	C	7: 97,647,465 (GRCm39)	M371L	possibly damaging	Het
Hdac9	T	C	12: 34,479,488 (GRCm39)		probably benign	Het
Heatr1	T	A	13: 12,413,908 (GRCm39)	W162R	probably damaging	Het
Hydin	A	T	8: 111,053,078 (GRCm39)	D250V	probably damaging	Het
Itga4	T	A	2: 79,153,005 (GRCm39)	C897*	probably null	Het
Itprid1	G	T	6: 55,944,790 (GRCm39)	A504S	possibly damaging	Het
Kcnd2	T	C	6: 21,727,339 (GRCm39)	*631Q	probably null	Het
Kcnn2	A	G	18: 45,693,694 (GRCm39)		probably null	Het
Lama1	A	T	17: 68,125,696 (GRCm39)	E2951V	probably damaging	Het
Lyst	A	G	13: 13,845,455 (GRCm39)	Q1944R	probably benign	Het
Mmp14	A	G	14: 54,673,247 (GRCm39)	T52A	possibly damaging	Het
Mrgpra1	A	T	7: 46,985,372 (GRCm39)	N102K	probably benign	Het
Mrpl28	G	A	17: 26,344,489 (GRCm39)	G205D	probably damaging	Het
Mtmr4	T	C	11: 87,493,230 (GRCm39)		probably benign	Het
Oog2	A	G	4: 143,921,837 (GRCm39)	N249S	probably benign	Het
Or4f57	T	A	2: 111,790,620 (GRCm39)	H266L	possibly damaging	Het
Ppp6r2	T	A	15: 89,170,131 (GRCm39)	V882E	possibly damaging	Het
Qser1	A	C	2: 104,617,324 (GRCm39)	Y1073D	probably damaging	Het
Rbl2	C	A	8: 91,826,685 (GRCm39)	D480E	probably damaging	Het
Rfx7	G	A	9: 72,525,818 (GRCm39)	G1003S	probably damaging	Het
Rrh	A	C	3: 129,616,074 (GRCm39)	F20V	possibly damaging	Het
Rwdd3	A	G	3: 120,965,282 (GRCm39)	I15T	possibly damaging	Het
Slc17a8	T	A	10: 89,456,666 (GRCm39)	L32F	probably benign	Het
Slc29a4	A	G	5: 142,691,285 (GRCm39)	D55G	probably benign	Het
Tbc1d10a	A	T	11: 4,162,826 (GRCm39)	Y223F	probably benign	Het
Tbx20	A	G	9: 24,681,051 (GRCm39)	V147A	probably damaging	Het
Tmem63c	A	T	12: 87,118,770 (GRCm39)		probably benign	Het
Tmtc2	C	A	10: 105,249,646 (GRCm39)	R29L	probably damaging	Het
Ttc21b	T	A	2: 66,018,700 (GRCm39)	M1236L	probably benign	Het
Unc119	T	A	11: 78,238,052 (GRCm39)	C12S	probably damaging	Het
Vcan	A	G	13: 89,839,787 (GRCm39)	M1919T	probably benign	Het
Zmat4	C	A	8: 24,392,185 (GRCm39)	T47K	probably benign	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
IGL01649:Sestd1	APN	2	77,029,389 (GRCm39)	missense	probably damaging	1.00
IGL01953:Sestd1	APN	2	77,042,813 (GRCm39)	missense	possibly damaging	0.91
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

2013-10-07