Mutagenetix > Incidental Mutation

Incidental Mutation 'R1754:Spint2'

193838

Institutional Source

Beutler Lab

Gene Symbol

Spint2

Ensembl Gene

ENSMUSG00000074227

Gene Name

serine protease inhibitor, Kunitz type 2

Synonyms

HAI-2

MMRRC Submission

039786-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1754 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

28955748-28981337 bp(-) (GRCm39)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

C to T at 28959791 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000103871 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098604] [ENSMUST00000108236] [ENSMUST00000207601]

AlphaFold

Q9WU03

Predicted Effect

probably null
Transcript: ENSMUST00000098604

SMART Domains

Protein: ENSMUSP00000096204
Gene: ENSMUSG00000074227

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
KU	36	89	3.02e-23	SMART
KU	131	184	2.34e-20	SMART
transmembrane domain	198	220	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000108236

SMART Domains

Protein: ENSMUSP00000103871
Gene: ENSMUSG00000074227

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
KU	74	127	2.34e-20	SMART
transmembrane domain	141	163	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000207601

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208585

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane protein with two extracellular Kunitz domains that inhibits a variety of serine proteases. The protein inhibits HGF activator which prevents the formation of active hepatocyte growth factor. This gene is a putative tumor suppressor, and mutations in this gene result in congenital sodium diarrhea. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
PHENOTYPE: Homozygous embryos carrying an insertional mutation fail to progress to the headfold stage and die at gastrulation displaying a severe clefting of the embryonic ectoderm at E7.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	T	A	2: 25,324,345 (GRCm39)	L234M	probably benign	Het
Abca3	G	A	17: 24,596,753 (GRCm39)	S402N	probably benign	Het
Acad12	A	T	5: 121,745,544 (GRCm39)	V249D	probably benign	Het
Acp4	T	C	7: 43,904,428 (GRCm39)	I212V	probably benign	Het
Actl6a	T	A	3: 32,772,723 (GRCm39)	V233D	probably damaging	Het
Aire	T	A	10: 77,866,124 (GRCm39)	Q533L	probably damaging	Het
Aldh3b3	T	C	19: 4,018,517 (GRCm39)	S411P	probably benign	Het
Amer2	A	G	14: 60,617,206 (GRCm39)	K467R	probably damaging	Het
Apol9b	A	T	15: 77,619,962 (GRCm39)	I253F	probably benign	Het
Arid1b	A	G	17: 5,329,476 (GRCm39)		probably null	Het
Atp6v0a4	T	C	6: 38,044,764 (GRCm39)	T494A	probably benign	Het
Atp6v1b2	A	G	8: 69,554,613 (GRCm39)	D106G	probably benign	Het
Avpr1b	T	C	1: 131,527,839 (GRCm39)	S121P	probably damaging	Het
Bcl11a	A	C	11: 24,114,724 (GRCm39)	E689A	probably damaging	Het
Brpf3	T	G	17: 29,040,297 (GRCm39)	L906R	probably benign	Het
Btn1a1	T	C	13: 23,644,638 (GRCm39)	K287E	probably benign	Het
Cacna1i	A	G	15: 80,255,730 (GRCm39)	H871R	probably damaging	Het
Cd14	A	T	18: 36,858,567 (GRCm39)	L296Q	probably damaging	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Colgalt1	G	T	8: 72,075,823 (GRCm39)	W490L	probably damaging	Het
Ctnna2	A	G	6: 77,613,732 (GRCm39)	I273T	possibly damaging	Het
Dnah7a	A	T	1: 53,543,344 (GRCm39)	D2275E	probably benign	Het
Dnah7a	A	C	1: 53,601,059 (GRCm39)		probably null	Het
Egfem1	T	C	3: 29,722,482 (GRCm39)	Y404H	possibly damaging	Het
Esm1	A	T	13: 113,353,230 (GRCm39)	N171Y	probably damaging	Het
Exoc1	T	G	5: 76,708,169 (GRCm39)		probably null	Het
Fam243	A	G	16: 92,117,919 (GRCm39)	V123A	probably damaging	Het
Fcho1	A	G	8: 72,163,890 (GRCm39)	I580T	probably benign	Het
Fgfr1	A	G	8: 26,060,226 (GRCm39)	H552R	probably damaging	Het
Fsbp	A	G	4: 11,583,906 (GRCm39)	R202G	probably damaging	Het
Gabra6	A	G	11: 42,207,388 (GRCm39)	V231A	probably damaging	Het
Gmeb1	A	G	4: 131,959,338 (GRCm39)	S239P	probably benign	Het
Gnpat	T	A	8: 125,603,745 (GRCm39)	Y208N	probably damaging	Het
Il21	T	C	3: 37,279,674 (GRCm39)	K114R	possibly damaging	Het
Inhbc	T	C	10: 127,206,162 (GRCm39)	D35G	possibly damaging	Het
Inpp4b	A	T	8: 82,497,440 (GRCm39)	T87S	probably damaging	Het
Kcns2	T	C	15: 34,839,663 (GRCm39)	I342T	possibly damaging	Het
Ky	A	T	9: 102,419,126 (GRCm39)	T378S	possibly damaging	Het
Lcat	CAT	C	8: 106,668,446 (GRCm39)		probably null	Het
Lrrc8d	T	C	5: 105,960,523 (GRCm39)	V311A	probably benign	Het
Mief1	A	G	15: 80,133,803 (GRCm39)	I287V	probably damaging	Het
Mrpl47	A	G	3: 32,784,233 (GRCm39)	V179A	probably benign	Het
Mtcl1	T	C	17: 66,687,178 (GRCm39)	K576R	probably damaging	Het
Myh10	C	A	11: 68,703,884 (GRCm39)	A1902E	probably damaging	Het
Nlrp3	A	G	11: 59,449,228 (GRCm39)	T837A	possibly damaging	Het
Nr1i3	T	C	1: 171,044,963 (GRCm39)	Y132H	probably damaging	Het
Oit3	T	C	10: 59,263,762 (GRCm39)		probably null	Het
Or12j4	A	T	7: 140,046,773 (GRCm39)	I220F	probably damaging	Het
Or2z2	A	T	11: 58,346,088 (GRCm39)	M229K	probably damaging	Het
Or4c100	A	T	2: 88,356,159 (GRCm39)	R77S	probably damaging	Het
Or5b113	T	C	19: 13,342,717 (GRCm39)	S242P	probably damaging	Het
Or5h25	T	A	16: 58,930,944 (GRCm39)	I10F	probably benign	Het
Or6k14	A	G	1: 173,927,599 (GRCm39)	T192A	probably benign	Het
Or7a42	T	A	10: 78,791,531 (GRCm39)	V164E	probably damaging	Het
Or9k2	G	A	10: 129,999,033 (GRCm39)	T54I	probably benign	Het
Pdlim4	T	C	11: 53,946,699 (GRCm39)	E196G	possibly damaging	Het
Pigs	A	G	11: 78,228,673 (GRCm39)	Y293C	probably damaging	Het
Pkd1l2	A	T	8: 117,757,458 (GRCm39)	S1527T	possibly damaging	Het
Pkd2l1	A	T	19: 44,144,040 (GRCm39)	Y344*	probably null	Het
Pmp2	T	C	3: 10,247,284 (GRCm39)		probably null	Het
Polr3e	T	C	7: 120,538,521 (GRCm39)		probably null	Het
Ppp3ca	C	G	3: 136,587,209 (GRCm39)	I230M	probably benign	Het
Ppp5c	T	C	7: 16,739,235 (GRCm39)	H463R	probably benign	Het
Ptger1	A	G	8: 84,395,926 (GRCm39)	N328D	probably benign	Het
Rhno1	A	T	6: 128,334,822 (GRCm39)	I167N	probably benign	Het
Rictor	C	A	15: 6,764,849 (GRCm39)	P34H	probably damaging	Het
Rnf10	A	C	5: 115,383,924 (GRCm39)	S630R	probably damaging	Het
Rnf168	A	G	16: 32,117,942 (GRCm39)	Q501R	probably benign	Het
Rngtt	T	G	4: 33,329,634 (GRCm39)		probably null	Het
Samd9l	G	T	6: 3,373,126 (GRCm39)	F1378L	probably damaging	Het
Slc9c1	T	A	16: 45,409,872 (GRCm39)	M864K	probably benign	Het
Slitrk5	T	C	14: 111,917,951 (GRCm39)	F525S	probably damaging	Het
Sox6	T	C	7: 115,076,290 (GRCm39)	M784V	probably benign	Het
Spata31e4	A	T	13: 50,855,123 (GRCm39)	T254S	probably damaging	Het
Ssh1	A	T	5: 114,093,906 (GRCm39)	I276N	probably damaging	Het
Trank1	T	A	9: 111,221,939 (GRCm39)	V2892D	probably benign	Het
Ttn	C	A	2: 76,581,384 (GRCm39)	E21424*	probably null	Het
Usp17lc	T	C	7: 103,068,055 (GRCm39)	I450T	probably benign	Het
Vcan	A	G	13: 89,852,854 (GRCm39)	V702A	probably benign	Het
Vmn1r36	TA	TAA	6: 66,693,517 (GRCm39)		probably null	Het
Vmn2r51	G	T	7: 9,833,873 (GRCm39)	D388E	probably benign	Het
Zfp106	A	C	2: 120,364,245 (GRCm39)	S721A	probably damaging	Het
Zfp106	G	A	2: 120,364,244 (GRCm39)	S721L	probably damaging	Het
Zfp189	T	A	4: 49,529,342 (GRCm39)	H148Q	possibly damaging	Het
Zfp352	A	T	4: 90,112,046 (GRCm39)	Y62F	probably benign	Het
Zfp839	T	C	12: 110,821,891 (GRCm39)	V235A	probably damaging	Het
Zfp871	T	C	17: 32,994,308 (GRCm39)	Y289C	probably damaging	Het

Other mutations in Spint2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03373:Spint2	APN	7	28,957,634 (GRCm39)	splice site	probably benign
R1992:Spint2	UTSW	7	28,958,833 (GRCm39)	missense	probably damaging	1.00
R4172:Spint2	UTSW	7	28,963,097 (GRCm39)	missense	probably damaging	0.99
R4668:Spint2	UTSW	7	28,959,804 (GRCm39)	missense	probably damaging	0.96
R4852:Spint2	UTSW	7	28,956,211 (GRCm39)	missense	probably benign	0.25
R5299:Spint2	UTSW	7	28,963,151 (GRCm39)	missense	probably damaging	1.00
R6501:Spint2	UTSW	7	28,963,131 (GRCm39)	missense	probably damaging	1.00
R6746:Spint2	UTSW	7	28,958,848 (GRCm39)	missense	probably benign	0.01
R7604:Spint2	UTSW	7	28,957,944 (GRCm39)	missense	probably damaging	1.00
R8038:Spint2	UTSW	7	28,959,554 (GRCm39)	intron	probably benign
R8734:Spint2	UTSW	7	28,958,835 (GRCm39)	missense	probably damaging	0.97
Z1176:Spint2	UTSW	7	28,956,247 (GRCm39)	missense	possibly damaging	0.61
Z1177:Spint2	UTSW	7	28,963,085 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCAGCTACTGACAGCTCTACAAAGC -3'
(R):5'- GGACTGAACTTCCTTTCCACCAGG -3'

Sequencing Primer
(F):5'- TTGGCAGAGAACAAAGGACTTC -3'
(R):5'- CTTTCCACCAGGGTTGGTTG -3'

Posted On

2014-05-23