Mutagenetix > Incidental Mutation

Incidental Mutation 'R7977:Snip1'

650952

Institutional Source

Beutler Lab

Gene Symbol

Snip1

Ensembl Gene

ENSMUSG00000050213

Gene Name

Smad nuclear interacting protein 1

Synonyms

2410133M08Rik

MMRRC Submission

046020-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7977 (G1)

Quality Score

149.008

Status

Not validated

Chromosome

Chromosomal Location

124960465-124967835 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 124960732 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Tryptophan at position 63 (G63W)

Ref Sequence

ENSEMBL: ENSMUSP00000060721 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036383] [ENSMUST00000052183]

AlphaFold

Q8BIZ6

Predicted Effect

probably benign
Transcript: ENSMUST00000036383

SMART Domains

Protein: ENSMUSP00000047783
Gene: ENSMUSG00000042707

Domain	Start	End	E-Value	Type
low complexity region	36	48	N/A	INTRINSIC
Pfam:Ax_dynein_light	66	252	1.2e-96	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000052183
AA Change: G63W

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000060721
Gene: ENSMUSG00000050213
AA Change: G63W

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: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430097D07Rik	G	T	2: 32,464,317 (GRCm39)	Q161K	unknown	Het
Acsl5	T	C	19: 55,266,405 (GRCm39)		probably null	Het
Adgre1	T	A	17: 57,754,987 (GRCm39)	I695N	possibly damaging	Het
Ank2	T	C	3: 126,739,356 (GRCm39)	D2176G	unknown	Het
Atp6v0a2	G	A	5: 124,797,050 (GRCm39)	G810D	probably damaging	Het
Bod1l	A	C	5: 41,952,413 (GRCm39)	N2868K	probably damaging	Het
Brd7	T	C	8: 89,060,769 (GRCm39)	T526A	probably benign	Het
C9	T	A	15: 6,496,943 (GRCm39)	Y213*	probably null	Het
Card6	T	A	15: 5,130,007 (GRCm39)	N463I	probably damaging	Het
Ccdc81	T	C	7: 89,525,319 (GRCm39)	Y485C	probably damaging	Het
Celsr1	A	G	15: 85,917,194 (GRCm39)	F260L	probably damaging	Het
Dnah8	A	G	17: 30,963,498 (GRCm39)	D2304G	probably damaging	Het
Dnase1	A	G	16: 3,855,834 (GRCm39)	D55G	probably damaging	Het
Ecsit	C	A	9: 21,984,780 (GRCm39)	R296L	probably damaging	Het
Entpd8	A	G	2: 24,974,778 (GRCm39)	D403G	probably damaging	Het
Epha2	C	A	4: 141,035,791 (GRCm39)	Q76K	probably damaging	Het
Exoc1	T	A	5: 76,691,432 (GRCm39)	V252E	probably damaging	Het
Fmnl3	T	A	15: 99,225,979 (GRCm39)	H225L	possibly damaging	Het
Gm4565	A	C	7: 22,282,812 (GRCm39)	M2R	probably benign	Het
Gpr146	G	T	5: 139,378,440 (GRCm39)	A81S	possibly damaging	Het
Heg1	C	A	16: 33,541,100 (GRCm39)	S419*	probably null	Het
Hps5	A	C	7: 46,418,475 (GRCm39)	I865S	probably benign	Het
Hsp90ab1	A	C	17: 45,882,532 (GRCm39)	I54S	probably damaging	Het
Hyal4	T	G	6: 24,763,865 (GRCm39)	M342R	probably damaging	Het
Itgal	A	G	7: 126,927,470 (GRCm39)	T987A	possibly damaging	Het
Kat6b	A	G	14: 21,719,931 (GRCm39)	T1428A	probably benign	Het
Krt9	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	11: 100,079,903 (GRCm39)		probably benign	Het
Ldlrad4	G	T	18: 68,368,740 (GRCm39)	A66S	possibly damaging	Het
Lmtk2	A	G	5: 144,111,959 (GRCm39)	D893G	probably benign	Het
Myo3b	A	G	2: 70,161,277 (GRCm39)	T1174A	probably benign	Het
Naf1	CGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGA	CGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGA	8: 67,313,146 (GRCm39)		probably benign	Het
Nsun5	G	A	5: 135,404,534 (GRCm39)	R424H	probably damaging	Het
Oacyl	A	G	18: 65,831,462 (GRCm39)	E33G	probably benign	Het
Or6c66	T	C	10: 129,461,838 (GRCm39)	I31V	probably benign	Het
Or7d10	T	C	9: 19,831,610 (GRCm39)	F35S	possibly damaging	Het
Palm	C	T	10: 79,629,539 (GRCm39)		probably benign	Het
Papln	A	G	12: 83,822,156 (GRCm39)	E337G	probably damaging	Het
Pira2	A	T	7: 3,844,696 (GRCm39)	F445Y	probably benign	Het
Setd1b	A	G	5: 123,285,743 (GRCm39)	D263G	unknown	Het
Slc10a7	T	A	8: 79,423,843 (GRCm39)	F202I	probably benign	Het
Smpd3	T	C	8: 106,986,526 (GRCm39)	I455V	probably benign	Het
Sorl1	T	A	9: 41,888,857 (GRCm39)	Y1981F	probably damaging	Het
Tagln2	A	G	1: 172,332,820 (GRCm39)	T36A	probably benign	Het
Tnxb	T	C	17: 34,929,194 (GRCm39)	S2746P	possibly damaging	Het
Tob2	G	A	15: 81,735,681 (GRCm39)	P96L	probably damaging	Het
Triobp	T	A	15: 78,885,744 (GRCm39)	Y1816N	probably damaging	Het
Trpc3	A	G	3: 36,698,318 (GRCm39)	I647T	probably benign	Het
Ttn	A	G	2: 76,721,905 (GRCm39)	S6600P	unknown	Het
Vmn1r200	A	T	13: 22,580,025 (GRCm39)	Y276F	possibly damaging	Het
Vmn1r230	T	C	17: 21,067,159 (GRCm39)	I116T	probably benign	Het
Vmn1r26	A	T	6: 57,985,264 (GRCm39)	Y308*	probably null	Het
Vmn2r16	C	T	5: 109,488,015 (GRCm39)	T296I	probably damaging	Het
Wdfy2	A	G	14: 63,189,380 (GRCm39)	D283G	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
R7218:Snip1	UTSW	4	124,966,712 (GRCm39)	missense	probably damaging	0.98
R7226:Snip1	UTSW	4	124,965,273 (GRCm39)	missense	probably benign	0.27
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'- TACGGCTCAAGTGGCTCAAC -3'
(R):5'- CGTGTCTTTGTAGGCAGACG -3'

Sequencing Primer
(F):5'- ACCGTGCAAGTGACTCTCG -3'
(R):5'- CTTTGTAGGCAGACGAGGGG -3'

Posted On

2020-09-15