Mutagenetix > Incidental Mutation

Incidental Mutation 'R9594:Spmip6'

723146

Institutional Source

Beutler Lab

Gene Symbol

Spmip6

Ensembl Gene

ENSMUSG00000028441

Gene Name

sperm microtubule inner protein 6

Synonyms

1110017D15Rik, Smrp1, Cbe1

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9594 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

41505009-41517333 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 41505091 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 207 (E207G)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030152] [ENSMUST00000054920] [ENSMUST00000095126] [ENSMUST00000149596]

AlphaFold

Q2MH31

Predicted Effect

probably benign
Transcript: ENSMUST00000030152

SMART Domains

Protein: ENSMUSP00000030152
Gene: ENSMUSG00000028441

Domain	Start	End	E-Value	Type
Pfam:SMRP1	1	260	3.3e-157	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000054920

SMART Domains

Protein: ENSMUSP00000059038
Gene: ENSMUSG00000046312

Domain	Start	End	E-Value	Type
transmembrane domain	56	78	N/A	INTRINSIC
Pfam:Glyco_hydro_31	311	712	9.7e-55	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000095126

SMART Domains

Protein: ENSMUSP00000092744
Gene: ENSMUSG00000028441

Domain	Start	End	E-Value	Type
Pfam:SMRP1	1	202	6.5e-102	PFAM

Predicted Effect

SMART Domains

Protein: ENSMUSP00000122537
Gene: ENSMUSG00000028441
AA Change: E207G

Domain	Start	End	E-Value	Type
Pfam:SMRP1	1	176	5.2e-87	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000149596

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear- or perinuclear-localized protein with no predicted domains or similarity to other known proteins. Expression of this gene is induced during the differentiation of bronchial epithelial cells, and the encoded protein may play a role in ciliogenesis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aida	T	C	1: 183,095,012 (GRCm39)	V151A	possibly damaging	Het
Akap3	T	C	6: 126,842,377 (GRCm39)	V332A	probably damaging	Het
Apobec3	T	A	15: 79,790,653 (GRCm39)	W332R		Het
Atf6	A	G	1: 170,668,402 (GRCm39)	V166A	probably benign	Het
Bcl6b	A	G	11: 70,118,858 (GRCm39)		probably null	Het
Brd3	G	T	2: 27,340,373 (GRCm39)	P612Q	probably damaging	Het
Btg1	T	A	10: 96,453,263 (GRCm39)	L26H	probably damaging	Het
Btg4	A	G	9: 51,030,560 (GRCm39)	D220G	probably damaging	Het
Cd209e	T	C	8: 3,901,183 (GRCm39)	D157G	probably benign	Het
Cdhr18	A	T	14: 13,814,959 (GRCm38)	L858Q	unknown	Het
Cimip2b	T	G	4: 43,427,329 (GRCm39)	T332P	unknown	Het
Dnah10	T	C	5: 124,907,107 (GRCm39)	L4269P	probably damaging	Het
Dync1li2	C	A	8: 105,154,752 (GRCm39)	K285N	possibly damaging	Het
Ehmt2	C	A	17: 35,118,740 (GRCm39)	Q198K	possibly damaging	Het
Foxn3	C	A	12: 99,359,294 (GRCm39)		probably benign	Het
Fstl4	C	T	11: 52,664,694 (GRCm39)	P8L	probably benign	Het
G6pc1	T	C	11: 101,258,660 (GRCm39)	I13T	possibly damaging	Het
Ghrhr	A	G	6: 55,362,470 (GRCm39)	I356V	probably benign	Het
Gm14410	A	T	2: 176,885,773 (GRCm39)	C164S	probably damaging	Het
Gpcpd1	A	T	2: 132,388,848 (GRCm39)	M308K	possibly damaging	Het
Gpr143	GTTTTTT	GTTTTTTT	X: 151,578,627 (GRCm39)		probably null	Het
Gpr179	T	C	11: 97,225,727 (GRCm39)	K2143E	probably benign	Het
Grm2	G	A	9: 106,524,408 (GRCm39)	T298I	probably damaging	Het
H2-T24	A	T	17: 36,326,455 (GRCm39)	L148Q	probably damaging	Het
Hcn2	C	T	10: 79,560,559 (GRCm39)	R297C	probably damaging	Het
Hic1	T	C	11: 75,056,757 (GRCm39)	T711A	possibly damaging	Het
Ide	T	C	19: 37,264,514 (GRCm39)	D672G		Het
Impg1	A	G	9: 80,288,923 (GRCm39)	F378S	probably damaging	Het
Lipe	T	C	7: 25,098,128 (GRCm39)		probably benign	Het
Lmo7	A	G	14: 102,156,136 (GRCm39)	D1270G	probably null	Het
Mbnl1	A	T	3: 60,520,859 (GRCm39)	H149L	probably damaging	Het
Mmel1	T	C	4: 154,978,592 (GRCm39)	Y675H	probably benign	Het
Mrfap1	C	A	5: 36,953,807 (GRCm39)	R44L	probably damaging	Het
Nherf2	G	T	17: 24,868,922 (GRCm39)	T68K	probably damaging	Het
Notch2	A	G	3: 98,041,889 (GRCm39)	T1303A	possibly damaging	Het
Olfm3	A	G	3: 114,883,785 (GRCm39)	D62G	probably damaging	Het
Or10ak13	T	C	4: 118,638,952 (GRCm39)	I277V	probably benign	Het
Or2i1	C	G	17: 37,508,308 (GRCm39)	A109P	possibly damaging	Het
Or5g27	C	T	2: 85,409,882 (GRCm39)	Q100*	probably null	Het
Or5l13	T	C	2: 87,780,544 (GRCm39)	E11G	probably damaging	Het
Or5p59	T	G	7: 107,702,663 (GRCm39)	I49S	probably damaging	Het
Or6c8b	T	A	10: 128,882,354 (GRCm39)	I193F	probably benign	Het
Pcbd2	A	G	13: 55,880,849 (GRCm39)	Y68C	probably benign	Het
Phf3	G	C	1: 30,869,003 (GRCm39)	Q682E	probably benign	Het
Ptpn6	C	A	6: 124,704,728 (GRCm39)	R294L	probably benign	Het
Ptprz1	T	A	6: 23,025,026 (GRCm39)	V1754D	probably damaging	Het
Rab36	T	A	10: 74,887,873 (GRCm39)	I248K	probably damaging	Het
Rabac1	A	G	7: 24,671,579 (GRCm39)	Y114H	probably benign	Het
Rag1	A	G	2: 101,474,701 (GRCm39)	V147A	probably benign	Het
Rnf150	T	A	8: 83,717,144 (GRCm39)	V217D	probably damaging	Het
Scarf2	G	T	16: 17,620,473 (GRCm39)	C101F	probably damaging	Het
Sh3glb2	C	T	2: 30,236,672 (GRCm39)	R230Q	probably damaging	Het
Slc13a1	A	G	6: 24,089,100 (GRCm39)	V550A	probably damaging	Het
Sp140	A	G	1: 85,560,235 (GRCm39)	N289S	possibly damaging	Het
Stac3	T	A	10: 127,338,654 (GRCm39)	M1K	probably null	Het
Stk31	C	T	6: 49,424,221 (GRCm39)	T845I	possibly damaging	Het
Sufu	T	C	19: 46,385,674 (GRCm39)	Y45H	probably damaging	Het
Tg	T	A	15: 66,607,109 (GRCm39)	C1834*	probably null	Het
Tns3	G	A	11: 8,401,142 (GRCm39)	T1052M	possibly damaging	Het
Tpcn1	T	C	5: 120,686,021 (GRCm39)	T427A	possibly damaging	Het
Trim45	A	G	3: 100,830,265 (GRCm39)	H13R	probably benign	Het
Trpv5	A	G	6: 41,647,773 (GRCm39)	F347L	probably benign	Het
Vmn1r43	G	A	6: 89,846,877 (GRCm39)	T203M	probably damaging	Het
Zfp236	G	T	18: 82,664,238 (GRCm39)	Q516K	probably damaging	Het

Other mutations in Spmip6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00820:Spmip6	APN	4	41,507,178 (GRCm39)	missense	probably damaging	1.00
IGL01062:Spmip6	APN	4	41,511,433 (GRCm39)	missense	probably damaging	1.00
IGL02645:Spmip6	APN	4	41,517,080 (GRCm39)	missense	probably damaging	1.00
IGL03124:Spmip6	APN	4	41,507,287 (GRCm39)	missense	possibly damaging	0.87
R0284:Spmip6	UTSW	4	41,507,538 (GRCm39)	missense	probably damaging	1.00
R1760:Spmip6	UTSW	4	41,507,330 (GRCm39)	critical splice acceptor site	probably null
R1761:Spmip6	UTSW	4	41,507,223 (GRCm39)	missense	probably damaging	1.00
R2073:Spmip6	UTSW	4	41,507,519 (GRCm39)	critical splice donor site	probably null
R2180:Spmip6	UTSW	4	41,507,170 (GRCm39)	missense	probably benign	0.00
R4414:Spmip6	UTSW	4	41,505,574 (GRCm39)	missense	possibly damaging	0.71
R4415:Spmip6	UTSW	4	41,505,574 (GRCm39)	missense	possibly damaging	0.71
R4416:Spmip6	UTSW	4	41,505,574 (GRCm39)	missense	possibly damaging	0.71
R4417:Spmip6	UTSW	4	41,505,574 (GRCm39)	missense	possibly damaging	0.71
R4516:Spmip6	UTSW	4	41,517,200 (GRCm39)	unclassified	probably benign
R5132:Spmip6	UTSW	4	41,517,178 (GRCm39)	unclassified	probably benign
R6132:Spmip6	UTSW	4	41,517,160 (GRCm39)	start codon destroyed	probably null	0.98
R6413:Spmip6	UTSW	4	41,505,135 (GRCm39)	missense	possibly damaging	0.86
R8519:Spmip6	UTSW	4	41,505,071 (GRCm39)	missense	possibly damaging	0.93
R9493:Spmip6	UTSW	4	41,508,614 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- GAACTCATCTCTGTGGTGATGG -3'
(R):5'- CAGCAGAACTTGAGGTCAGTG -3'

Sequencing Primer
(F):5'- ATATCTATCAGGAGGTGGGTCACTC -3'
(R):5'- AGAACTTGAGGTCAGTGATCGGTC -3'

Posted On

2022-08-09