Mutagenetix > Incidental Mutation

Incidental Mutation 'R7218:Snip1'

561577

Institutional Source

Beutler Lab

Gene Symbol

Snip1

Ensembl Gene

ENSMUSG00000050213

Gene Name

Smad nuclear interacting protein 1

Synonyms

2410133M08Rik

MMRRC Submission

045290-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7218 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

124960465-124967835 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 124966712 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 381 (S381T)

Ref Sequence

ENSEMBL: ENSMUSP00000060721 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052183]

AlphaFold

Q8BIZ6

Predicted Effect

probably damaging
Transcript: ENSMUST00000052183
AA Change: S381T

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000060721
Gene: ENSMUSG00000050213
AA Change: S381T

Domain	Start	End	E-Value	Type
low complexity region	6	19	N/A	INTRINSIC
low complexity region	42	56	N/A	INTRINSIC
low complexity region	62	89	N/A	INTRINSIC
low complexity region	132	146	N/A	INTRINSIC
FHA	267	331	1.52e-14	SMART
low complexity region	370	378	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (69/69)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that contains a coiled-coil motif and C-terminal forkhead-associated (FHA) domain. The encoded protein functions as a transcriptional coactivator that increases c-Myc activity and inhibits transforming growth factor beta (TGF-beta) and nuclear factor kappa-B (NF-kB) signaling. The encoded protein also regulates the stability of cyclin D1 mRNA, and may play a role in cell proliferation and cancer progression. Mutations in this gene are a cause of psychomotor retardation, epilepsy, and craniofacial dysmorphism (PMRED). [provided by RefSeq, Mar 2012]

Allele List at MGI

All alleles(4) : Targeted(3) Gene trapped(1)

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600014C23Rik	T	C	17: 46,043,977 (GRCm39)	T94A	unknown	Het
1700025G04Rik	T	C	1: 151,791,259 (GRCm39)	R101G	probably damaging	Het
6430548M08Rik	T	A	8: 120,872,322 (GRCm39)	S83R	probably damaging	Het
Actn2	A	G	13: 12,293,799 (GRCm39)	S574P	probably benign	Het
Ank	A	T	15: 27,544,407 (GRCm39)	Y56F	probably damaging	Het
Ano7	A	G	1: 93,308,191 (GRCm39)	D74G	probably benign	Het
Apaf1	T	A	10: 90,872,864 (GRCm39)	T738S	probably damaging	Het
Apcs	A	T	1: 172,722,231 (GRCm39)	D38E	possibly damaging	Het
Asap1	G	A	15: 64,002,099 (GRCm39)	T404M	probably damaging	Het
Atp8a1	T	A	5: 67,860,324 (GRCm39)	D717V		Het
Baiap2l1	A	G	5: 144,212,687 (GRCm39)	S443P	probably benign	Het
Bmal1	A	T	7: 112,886,390 (GRCm39)	H149L	probably damaging	Het
Brix1	T	C	15: 10,483,378 (GRCm39)		probably null	Het
C1qtnf6	T	C	15: 78,411,574 (GRCm39)	E34G	probably benign	Het
Chil3	A	C	3: 106,067,853 (GRCm39)		probably null	Het
Chmp4c	T	A	3: 10,432,198 (GRCm39)	L36Q	probably damaging	Het
Chrna2	T	A	14: 66,381,320 (GRCm39)		probably null	Het
Clec1a	C	T	6: 129,413,918 (GRCm39)	C57Y	probably damaging	Het
Clec7a	G	T	6: 129,445,885 (GRCm39)	T95K	probably damaging	Het
Csf1r	C	A	18: 61,263,396 (GRCm39)	S926R	probably damaging	Het
Dnajc9	A	G	14: 20,438,507 (GRCm39)	I61T	probably benign	Het
Extl1	T	G	4: 134,087,080 (GRCm39)	S493R	probably benign	Het
Fance	A	G	17: 28,545,148 (GRCm39)	D143G	probably benign	Het
Fcho2	C	T	13: 98,890,121 (GRCm39)		probably null	Het
Filip1	T	C	9: 79,725,356 (GRCm39)	S1088G	probably benign	Het
Gnat1	A	C	9: 107,553,184 (GRCm39)	M319R	possibly damaging	Het
Gpr132	A	T	12: 112,816,049 (GRCm39)	V259E	probably damaging	Het
Gprc5d	T	A	6: 135,093,452 (GRCm39)	M152L	probably benign	Het
Hif3a	C	T	7: 16,784,513 (GRCm39)	R244H	probably damaging	Het
Hivep3	T	C	4: 119,952,649 (GRCm39)	S322P	possibly damaging	Het
Il33	T	A	19: 29,936,325 (GRCm39)	F229I	probably damaging	Het
Il4ra	A	G	7: 125,174,950 (GRCm39)	D386G	probably benign	Het
Ino80	G	T	2: 119,288,608 (GRCm39)	H33N	probably benign	Het
Ip6k1	A	G	9: 107,922,781 (GRCm39)	D228G	unknown	Het
Mamdc2	C	T	19: 23,424,974 (GRCm39)	A40T	probably benign	Het
Meis3	T	C	7: 15,918,626 (GRCm39)	V357A	probably benign	Het
Mycbp2	T	C	14: 103,371,282 (GRCm39)	T4199A	probably benign	Het
Myo7b	A	T	18: 32,114,054 (GRCm39)	M1099K	probably benign	Het
Mzb1	A	T	18: 35,780,975 (GRCm39)	H104Q	probably benign	Het
Nfatc2	A	G	2: 168,413,184 (GRCm39)	L167P	probably benign	Het
Numa1	A	T	7: 101,650,117 (GRCm39)	S1283C	probably benign	Het
Nup98	T	G	7: 101,841,107 (GRCm39)		probably null	Het
Or13p4	T	C	4: 118,547,215 (GRCm39)	I145V	probably benign	Het
Or5p55	T	C	7: 107,566,874 (GRCm39)	L90P	probably benign	Het
Pkhd1l1	A	G	15: 44,386,091 (GRCm39)	T1243A	possibly damaging	Het
Pramel39-ps	C	A	5: 94,451,113 (GRCm39)	V338F	probably benign	Het
Ptpro	C	T	6: 137,431,596 (GRCm39)	R1152W	probably damaging	Het
Ptprt	T	C	2: 161,389,284 (GRCm39)	T1270A	probably damaging	Het
Pwwp2b	A	C	7: 138,836,049 (GRCm39)	T497P	probably damaging	Het
Rab44	T	A	17: 29,358,418 (GRCm39)	V202E		Het
Rbfox1	C	T	16: 7,111,947 (GRCm39)	T191I	probably damaging	Het
Rufy4	A	G	1: 74,172,174 (GRCm39)	K299R	probably damaging	Het
Spen	T	C	4: 141,199,961 (GRCm39)	I2889V	possibly damaging	Het
Spopfm2	A	T	3: 94,082,856 (GRCm39)	H318Q	possibly damaging	Het
St3gal3	T	A	4: 117,814,639 (GRCm39)	D218V		Het
Sun1	A	G	5: 139,212,442 (GRCm39)	T70A	unknown	Het
Tbc1d23	C	T	16: 56,990,745 (GRCm39)	V678M	probably damaging	Het
Tdh	T	A	14: 63,733,206 (GRCm39)	Y195F	probably damaging	Het
Tescl	C	T	7: 24,033,286 (GRCm39)	R13H	possibly damaging	Het
Tfap2c	T	A	2: 172,399,277 (GRCm39)	M508K	probably benign	Het
Trappc4	A	G	9: 44,316,587 (GRCm39)	M136T	probably benign	Het
Tyk2	A	G	9: 21,016,350 (GRCm39)	C1207R	probably damaging	Het
Ugt2b36	T	C	5: 87,229,398 (GRCm39)	Y355C	probably damaging	Het
Vmn1r119	T	A	7: 20,745,572 (GRCm39)	H270L	probably benign	Het
Vmn2r20	G	A	6: 123,363,074 (GRCm39)	P570L	probably damaging	Het
Wnk1	A	C	6: 119,979,234 (GRCm39)	Y284*	probably null	Het
Yars2	C	T	16: 16,121,182 (GRCm39)	A112V	probably damaging	Het
Zer1	T	C	2: 29,995,024 (GRCm39)	N470S	probably damaging	Het
Zfp747l1	A	T	7: 126,983,852 (GRCm39)	S417T	probably benign	Het
Zfp879	A	C	11: 50,723,508 (GRCm39)	V516G	possibly damaging	Het

Other mutations in Snip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02223:Snip1	APN	4	124,966,545 (GRCm39)	missense	possibly damaging	0.66
R0054:Snip1	UTSW	4	124,966,633 (GRCm39)	nonsense	probably null
R0054:Snip1	UTSW	4	124,966,633 (GRCm39)	nonsense	probably null
R1163:Snip1	UTSW	4	124,966,613 (GRCm39)	missense	probably damaging	1.00
R1735:Snip1	UTSW	4	124,964,994 (GRCm39)	missense	probably benign	0.00
R7226:Snip1	UTSW	4	124,965,273 (GRCm39)	missense	probably benign	0.27
R7977:Snip1	UTSW	4	124,960,732 (GRCm39)	missense	probably damaging	0.99
R7987:Snip1	UTSW	4	124,960,732 (GRCm39)	missense	probably damaging	0.99
R7999:Snip1	UTSW	4	124,965,174 (GRCm39)	missense	probably benign	0.00
R8392:Snip1	UTSW	4	124,960,618 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TTATCGACCTTGGCTCAGGC -3'
(R):5'- TGTTCAGAAAACAAGGGCCC -3'

Sequencing Primer
(F):5'- CTTGGCTCAGGCAATGGAAC -3'
(R):5'- CAAGGGCCCACAAGCAGG -3'

Posted On

2019-06-26