Mutagenetix > Incidental Mutation

Incidental Mutation 'R0206:Spint1'

35440

Institutional Source

Beutler Lab

Gene Symbol

Spint1

Ensembl Gene

ENSMUSG00000027315

Gene Name

serine protease inhibitor, Kunitz type 1

Synonyms

HAI-1

MMRRC Submission

038459-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0206 (G1)

Quality Score

159

Status

Validated

Chromosome

Chromosomal Location

119067841-119079995 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 119078826 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000106441 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028783] [ENSMUST00000110816] [ENSMUST00000110817]

AlphaFold

Q9R097

Predicted Effect

probably benign
Transcript: ENSMUST00000028783

SMART Domains

Protein: ENSMUSP00000028783
Gene: ENSMUSG00000027315

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
MANEC	39	134	1.18e-39	SMART
Blast:PKD	162	237	6e-19	BLAST
KU	242	295	3.75e-19	SMART
LDLa	312	349	2.12e-8	SMART
KU	367	420	8.04e-19	SMART
transmembrane domain	444	466	N/A	INTRINSIC
low complexity region	474	492	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110816

SMART Domains

Protein: ENSMUSP00000106440
Gene: ENSMUSG00000027315

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
MANEC	39	134	1.18e-39	SMART
Blast:PKD	162	237	6e-19	BLAST
KU	242	295	3.75e-19	SMART
LDLa	312	349	2.12e-8	SMART
KU	367	420	8.04e-19	SMART
transmembrane domain	444	466	N/A	INTRINSIC
low complexity region	474	492	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110817

SMART Domains

Protein: ENSMUSP00000106441
Gene: ENSMUSG00000027315

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
MANEC	39	134	1.18e-39	SMART
Blast:PKD	162	237	6e-19	BLAST
KU	242	295	3.75e-19	SMART
LDLa	312	349	2.12e-8	SMART
KU	367	420	8.04e-19	SMART
transmembrane domain	444	466	N/A	INTRINSIC
low complexity region	474	492	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134872

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139903

Coding Region Coverage

1x: 98.2%
3x: 97.1%
10x: 94.6%
20x: 89.0%

Validation Efficiency

99% (83/84)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the Kunitz family of serine protease inhibitors. The protein is a potent inhibitor specific for HGF activator and is thought to be involved in the regulation of the proteolytic activation of HGF in injured tissues. Alternative splicing results in multiple variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice exhibit embryonic lethality at E10.5 or earlier, growth retardation, and widespread cell apoptosis. Placental development is impaired with abnormalities in branching morphogenesis, the formation of the labyrinth layer and placental function. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530064D06Rik	G	A	17: 48,470,486 (GRCm39)	T165I	probably benign	Het
Aadacl2fm1	C	T	3: 59,840,110 (GRCm39)	R61C	probably damaging	Het
Acsl5	A	G	19: 55,269,001 (GRCm39)	K221E	probably benign	Het
Adam26a	A	C	8: 44,023,455 (GRCm39)	F12V	possibly damaging	Het
Adgrb2	T	C	4: 129,886,352 (GRCm39)	L164P	probably damaging	Het
Aldh1l1	T	C	6: 90,546,848 (GRCm39)	F384L	possibly damaging	Het
Arhgef5	A	G	6: 43,250,275 (GRCm39)	E342G	probably damaging	Het
Btbd8	A	G	5: 107,652,906 (GRCm39)	T304A	probably benign	Het
Cacna1b	A	G	2: 24,497,492 (GRCm39)	S2140P	probably damaging	Het
Camsap2	G	C	1: 136,208,738 (GRCm39)	P918R	probably damaging	Het
Cdca3	C	T	6: 124,809,514 (GRCm39)		probably benign	Het
Cenpj	G	T	14: 56,801,427 (GRCm39)	A182E	probably benign	Het
Cit	A	T	5: 116,132,089 (GRCm39)	N1782Y	possibly damaging	Het
Cmya5	A	G	13: 93,232,065 (GRCm39)	S1008P	probably damaging	Het
Csgalnact2	T	G	6: 118,091,347 (GRCm39)	Q197P	probably benign	Het
D630045J12Rik	A	G	6: 38,116,385 (GRCm39)	M1745T	probably damaging	Het
Ddt	A	G	10: 75,608,719 (GRCm39)	M1T	probably null	Het
Dnah11	A	C	12: 118,007,509 (GRCm39)	N2156K	probably damaging	Het
Dock3	G	T	9: 106,874,195 (GRCm39)	Y425*	probably null	Het
Eng	A	T	2: 32,569,005 (GRCm39)	T511S	probably benign	Het
Gabra6	C	T	11: 42,207,906 (GRCm39)	W188*	probably null	Het
Gnptab	A	T	10: 88,275,372 (GRCm39)	H1111L	probably damaging	Het
H2-M10.4	A	G	17: 36,771,375 (GRCm39)	W268R	probably damaging	Het
Hrct1	C	A	4: 43,727,384 (GRCm39)	T8K	possibly damaging	Het
Il2ra	T	C	2: 11,686,828 (GRCm39)		probably benign	Het
Inhca	A	G	9: 103,159,861 (GRCm39)	C5R	probably damaging	Het
Inpp5k	T	C	11: 75,521,969 (GRCm39)	I15T	probably benign	Het
Ipcef1	A	G	10: 6,870,062 (GRCm39)	S113P	probably damaging	Het
Kctd8	A	T	5: 69,498,508 (GRCm39)	V46E	probably damaging	Het
Klk1b9	T	A	7: 43,628,854 (GRCm39)	N119K	possibly damaging	Het
Krtap9-3	C	A	11: 99,488,663 (GRCm39)	C73F	probably damaging	Het
Loxhd1	T	A	18: 77,492,562 (GRCm39)	F1334L	possibly damaging	Het
Me3	A	T	7: 89,498,868 (GRCm39)	T483S	probably benign	Het
Med1	A	G	11: 98,046,515 (GRCm39)		probably benign	Het
Med13	A	G	11: 86,191,682 (GRCm39)		probably benign	Het
Mvk	C	T	5: 114,597,035 (GRCm39)	T334M	probably damaging	Het
Mxra8	T	A	4: 155,927,053 (GRCm39)	I329N	probably damaging	Het
Mybphl	T	C	3: 108,282,731 (GRCm39)	V207A	probably damaging	Het
Myom1	T	C	17: 71,344,292 (GRCm39)	S266P	probably damaging	Het
Nr2f2	G	C	7: 70,009,923 (GRCm39)	P52R	probably damaging	Het
Or1d2	A	T	11: 74,255,968 (GRCm39)	I158F	probably benign	Het
Or2ag12	A	G	7: 106,276,781 (GRCm39)	V304A	probably benign	Het
Or52b1	A	T	7: 104,979,090 (GRCm39)	M103K	possibly damaging	Het
Or5b105	G	A	19: 13,080,642 (GRCm39)	R3C	possibly damaging	Het
Or5m3	T	C	2: 85,838,636 (GRCm39)	I172T	probably damaging	Het
Or6f1	T	C	7: 85,970,854 (GRCm39)	Y102C	probably benign	Het
Pcdhb18	T	C	18: 37,623,240 (GRCm39)	I190T	possibly damaging	Het
Pgbd1	A	C	13: 21,618,651 (GRCm39)	L2R	probably damaging	Het
Pkp4	A	G	2: 59,096,780 (GRCm39)	I61V	probably damaging	Het
Pold4	T	G	19: 4,282,593 (GRCm39)	Y58*	probably null	Het
Pomgnt1	T	C	4: 116,015,757 (GRCm39)		probably null	Het
Prex2	T	A	1: 11,355,368 (GRCm39)	D1556E	probably damaging	Het
Psmd1	T	C	1: 86,061,463 (GRCm39)	V891A	possibly damaging	Het
Psme3ip1	A	G	8: 95,314,639 (GRCm39)	F73S	probably damaging	Het
Rlig1	T	A	10: 100,422,056 (GRCm39)	K69*	probably null	Het
Rmdn2	T	A	17: 79,957,716 (GRCm39)		probably benign	Het
Ryr2	A	G	13: 11,691,137 (GRCm39)		probably benign	Het
Scgb2b27	C	A	7: 33,711,562 (GRCm39)	E96*	probably null	Het
Sec16b	G	T	1: 157,380,505 (GRCm39)	G359*	probably null	Het
Slc1a3	A	G	15: 8,738,040 (GRCm39)		probably benign	Het
Slc28a1	A	T	7: 80,767,454 (GRCm39)		probably benign	Het
Slc35d1	T	C	4: 103,065,351 (GRCm39)	T177A	probably damaging	Het
Snx33	G	A	9: 56,833,508 (GRCm39)	S187L	probably damaging	Het
Spg11	C	T	2: 121,886,177 (GRCm39)		probably null	Het
Spta1	A	G	1: 174,020,526 (GRCm39)	H545R	probably damaging	Het
Tinag	A	G	9: 76,907,134 (GRCm39)	I367T	probably damaging	Het
Tln1	C	T	4: 43,549,151 (GRCm39)	V644M	probably damaging	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Ube4b	T	C	4: 149,483,094 (GRCm39)	H58R	probably benign	Het
Ush2a	A	C	1: 188,263,958 (GRCm39)	I1612L	probably damaging	Het
Usp28	A	G	9: 48,939,569 (GRCm39)	Y275C	probably damaging	Het
Vmn2r6	T	C	3: 64,447,333 (GRCm39)	T578A	probably benign	Het
Vps13c	A	G	9: 67,846,444 (GRCm39)		probably benign	Het
Vwf	T	C	6: 125,614,419 (GRCm39)	F1100S	probably damaging	Het
Zfp318	G	T	17: 46,709,945 (GRCm39)	R556L	probably benign	Het
Zkscan1	T	A	5: 138,099,448 (GRCm39)	C391S	probably damaging	Het

Other mutations in Spint1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01351:Spint1	APN	2	119,076,936 (GRCm39)	missense	probably damaging	1.00
IGL02065:Spint1	APN	2	119,068,698 (GRCm39)	missense	probably benign	0.02
R0208:Spint1	UTSW	2	119,078,826 (GRCm39)	splice site	probably benign
R0415:Spint1	UTSW	2	119,076,096 (GRCm39)	missense	probably damaging	1.00
R0691:Spint1	UTSW	2	119,076,948 (GRCm39)	missense	probably damaging	1.00
R1236:Spint1	UTSW	2	119,076,054 (GRCm39)	missense	probably benign	0.05
R2190:Spint1	UTSW	2	119,068,661 (GRCm39)	missense	probably benign	0.01
R3890:Spint1	UTSW	2	119,079,283 (GRCm39)	missense	probably benign	0.28
R4599:Spint1	UTSW	2	119,076,941 (GRCm39)	missense	probably damaging	1.00
R6280:Spint1	UTSW	2	119,075,759 (GRCm39)	missense	possibly damaging	0.89
R8739:Spint1	UTSW	2	119,079,286 (GRCm39)	missense	possibly damaging	0.82
R9735:Spint1	UTSW	2	119,076,897 (GRCm39)	missense	probably damaging	1.00
S24628:Spint1	UTSW	2	119,076,096 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCCACGCTGGTATTACAACCCATTC -3'
(R):5'- GGCTGGGCATTCACAAGCAATCAC -3'

Sequencing Primer
(F):5'- AACAGCAGTGTCTTGAGTCC -3'
(R):5'- GCAATCACATGCTGCCCG -3'

Posted On

2013-05-09