Mutagenetix > Incidental Mutation

Incidental Mutation 'R0788:Sestd1'

76329

Institutional Source

Beutler Lab

Gene Symbol

Sestd1

Ensembl Gene

ENSMUSG00000042272

Gene Name

SEC14 and spectrin domains 1

Synonyms

1500031J16Rik

MMRRC Submission

038968-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0788 (G1)

Quality Score

142

Status

Validated

Chromosome

Chromosomal Location

77010684-77110936 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 77022060 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 544 (F544I)

Ref Sequence

ENSEMBL: ENSMUSP00000099721 (fasta)

Gene Model

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

AlphaFold

Q80UK0

Predicted Effect

probably damaging
Transcript: ENSMUST00000102659
AA Change: F544I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000099720
Gene: ENSMUSG00000042272
AA Change: F544I

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

probably damaging
Transcript: ENSMUST00000102660
AA Change: F544I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000099721
Gene: ENSMUSG00000042272
AA Change: F544I

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

Meta Mutation Damage Score

0.5766

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 96.9%
20x: 93.0%

Validation Efficiency

98% (53/54)

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
4833420G17Rik	T	A	13: 119,610,468 (GRCm39)	Y380*	probably null	Het
4931406B18Rik	C	A	7: 43,148,623 (GRCm39)	S196I	probably damaging	Het
Ablim2	T	C	5: 36,015,245 (GRCm39)	S519P	probably benign	Het
Adnp2	A	C	18: 80,173,219 (GRCm39)	C397G	probably benign	Het
Aldh1l2	A	G	10: 83,352,028 (GRCm39)	S156P	probably damaging	Het
Bcl2l15	G	T	3: 103,740,794 (GRCm39)		probably null	Het
Brd9	T	A	13: 74,092,986 (GRCm39)		probably benign	Het
Cars2	A	C	8: 11,579,672 (GRCm39)	I262R	possibly damaging	Het
Ccdc106	T	C	7: 5,060,533 (GRCm39)		probably benign	Het
Cdh3	G	A	8: 107,268,047 (GRCm39)	V361M	probably benign	Het
Cdhr1	A	C	14: 36,809,332 (GRCm39)		probably null	Het
Cdk5rap2	A	G	4: 70,225,468 (GRCm39)	I559T	possibly damaging	Het
Cdkn2aip	T	A	8: 48,166,798 (GRCm39)	Q3L	possibly damaging	Het
Chd1	G	T	17: 15,927,376 (GRCm39)	V10F	possibly damaging	Het
Col4a4	G	A	1: 82,502,717 (GRCm39)	P356S	unknown	Het
Col6a4	T	C	9: 105,949,197 (GRCm39)	K813E	probably benign	Het
Cttnbp2	G	A	6: 18,423,834 (GRCm39)	T830I	probably damaging	Het
Cyp2t4	A	G	7: 26,854,588 (GRCm39)	M23V	probably null	Het
Cyp3a16	T	C	5: 145,401,886 (GRCm39)	K59E	probably benign	Het
Dpysl5	G	A	5: 30,946,185 (GRCm39)		probably null	Het
E130308A19Rik	T	A	4: 59,719,847 (GRCm39)	Y460N	possibly damaging	Het
Ear6	T	A	14: 52,091,487 (GRCm39)	C11*	probably null	Het
Fat1	C	T	8: 45,477,020 (GRCm39)	T1999M	probably benign	Het
Gsdmd	T	A	15: 75,736,103 (GRCm39)	C77*	probably null	Het
Hsp90ab1	ACTTCTT	ACTT	17: 45,880,425 (GRCm39)		probably benign	Het
Kif28	A	T	1: 179,532,788 (GRCm39)		probably benign	Het
Krt6b	A	G	15: 101,585,954 (GRCm39)	I373T	probably damaging	Het
Lgr5	T	C	10: 115,288,902 (GRCm39)	T509A	probably damaging	Het
Mapkbp1	C	T	2: 119,854,482 (GRCm39)	P1354S	probably benign	Het
Nat10	A	G	2: 103,573,460 (GRCm39)	S346P	probably damaging	Het
Ncoa2	T	C	1: 13,237,113 (GRCm39)		probably benign	Het
Necap1	C	T	6: 122,858,495 (GRCm39)	R113W	probably damaging	Het
Or1l4	T	A	2: 37,092,035 (GRCm39)	Y261N	possibly damaging	Het
Orc4	A	T	2: 48,827,479 (GRCm39)	V38E	possibly damaging	Het
Per1	G	A	11: 68,992,185 (GRCm39)		probably benign	Het
Polb	T	C	8: 23,132,354 (GRCm39)	D130G	probably null	Het
Ppcs	T	C	4: 119,279,375 (GRCm39)	N59S	probably damaging	Het
Ppp2ca	A	G	11: 52,003,969 (GRCm39)	E42G	possibly damaging	Het
Ptprf	T	C	4: 118,083,663 (GRCm39)	T807A	probably damaging	Het
Rapgef2	A	C	3: 79,006,502 (GRCm39)	F284V	possibly damaging	Het
Slfn3	G	A	11: 83,103,662 (GRCm39)	G178S	possibly damaging	Het
Supt6	G	A	11: 78,098,598 (GRCm39)		probably benign	Het
Tas2r109	T	A	6: 132,957,264 (GRCm39)	Q222L	probably benign	Het
Tekt4	A	C	17: 25,691,021 (GRCm39)	D109A	probably damaging	Het
Tob2	C	A	15: 81,735,903 (GRCm39)	R22L	probably damaging	Het
Ttn	T	G	2: 76,653,282 (GRCm39)	E178D	possibly damaging	Het
Ube2u	C	A	4: 100,371,937 (GRCm39)		probably benign	Het
Uggt2	A	G	14: 119,332,812 (GRCm39)		probably benign	Het
Vstm2a	T	C	11: 16,209,968 (GRCm39)	F65L	probably damaging	Het
Zfp57	A	G	17: 37,317,092 (GRCm39)		probably benign	Het
Znrf3	G	T	11: 5,231,320 (GRCm39)	P731Q	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
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
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
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

Predicted Primers

PCR Primer
(F):5'- GCACCAAATGGCCTTTTCTTAGCTC -3'
(R):5'- TCTCTTTGGTAGGTCCAGCCTTGAC -3'

Sequencing Primer
(F):5'- AGCTCTGTGTAGCCAAACTG -3'
(R):5'- TAGTTCATAGAGCATGGCATCG -3'

Posted On

2013-10-16