Mutagenetix > Incidental Mutation

Incidental Mutation 'R9600:Spmip10'

723702

Institutional Source

Beutler Lab

Gene Symbol

Spmip10

Ensembl Gene

ENSMUSG00000032900

Gene Name

sperm microtubule inner protein 10

Synonyms

Tex43, 1700065I17Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.124) question?

Stock #

R9600 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

56721422-56727854 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 56725450 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 37 (W37R)

Ref Sequence

ENSEMBL: ENSMUSP00000038152 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000008445] [ENSMUST00000035640] [ENSMUST00000127591]

AlphaFold

Q9D9I1

Predicted Effect

probably benign
Transcript: ENSMUST00000008445

SMART Domains

Protein: ENSMUSP00000008445
Gene: ENSMUSG00000008301

Domain	Start	End	E-Value	Type
low complexity region	55	69	N/A	INTRINSIC
low complexity region	81	91	N/A	INTRINSIC
low complexity region	145	153	N/A	INTRINSIC
Pfam:RNA_GG_bind	221	304	2.4e-37	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000035640
AA Change: W37R

PolyPhen 2 Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000038152
Gene: ENSMUSG00000032900
AA Change: W37R

Domain	Start	End	E-Value	Type
Pfam:DUF4513	3	140	9.3e-75	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000127591
AA Change: W32R

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000117284
Gene: ENSMUSG00000032900
AA Change: W32R

Domain	Start	End	E-Value	Type
Pfam:DUF4513	1	72	2.7e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000147775
AA Change: W16R

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000115084
Gene: ENSMUSG00000032900
AA Change: W16R

Domain	Start	End	E-Value	Type
Pfam:DUF4513	1	82	8.6e-26	PFAM

Predicted Effect

silent
Transcript: ENSMUST00000153248

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730455P16Rik	A	G	11: 80,261,197 (GRCm39)	V210A	probably damaging	Het
Abcc9	G	A	6: 142,536,102 (GRCm39)	A1544V	possibly damaging	Het
Akap6	A	G	12: 52,933,341 (GRCm39)	T278A	probably benign	Het
Arfgef1	T	A	1: 10,233,977 (GRCm39)	I1106F	probably benign	Het
Armc7	T	C	11: 115,367,038 (GRCm39)	L61S	probably damaging	Het
Atp1a3	G	A	7: 24,700,027 (GRCm39)	T111M	probably benign	Het
Bltp1	A	T	3: 37,095,565 (GRCm39)	K1103*	probably null	Het
Cacna2d4	T	A	6: 119,322,023 (GRCm39)	S962R	probably benign	Het
Camsap2	T	C	1: 136,204,936 (GRCm39)	T526A		Het
Casq2	A	T	3: 102,052,622 (GRCm39)	D378V	unknown	Het
Chst8	C	T	7: 34,374,646 (GRCm39)	D398N	possibly damaging	Het
Cmya5	C	T	13: 93,226,604 (GRCm39)	G2828D	probably damaging	Het
Cntnap2	T	A	6: 45,969,009 (GRCm39)	N250K	probably damaging	Het
Cpne5	T	C	17: 29,380,520 (GRCm39)	N401D	probably damaging	Het
Cse1l	A	G	2: 166,757,119 (GRCm39)	N7S	probably damaging	Het
Cyp4f39	G	A	17: 32,705,920 (GRCm39)	G337D	probably damaging	Het
Dera	C	T	6: 137,814,135 (GRCm39)	R308C	probably benign	Het
Drd5	T	A	5: 38,478,174 (GRCm39)	I389N	possibly damaging	Het
F830016B08Rik	A	G	18: 60,433,237 (GRCm39)	T107A	probably damaging	Het
Fbxw22	C	A	9: 109,212,986 (GRCm39)	L320F	probably damaging	Het
Fndc3b	G	T	3: 27,552,941 (GRCm39)	T352K	probably damaging	Het
Gm36864	T	A	7: 43,886,275 (GRCm39)	I169K	unknown	Het
Hdac4	A	T	1: 91,889,277 (GRCm39)	D749E	probably damaging	Het
Herc1	C	T	9: 66,304,594 (GRCm39)	A805V	possibly damaging	Het
Hrh1	A	G	6: 114,457,453 (GRCm39)	K245E	probably benign	Het
Khdc1a	A	G	1: 21,421,204 (GRCm39)	T130A	probably benign	Het
Lrp5	C	G	19: 3,641,712 (GRCm39)	A1417P	probably benign	Het
Macf1	T	C	4: 123,365,002 (GRCm39)	Q3253R	possibly damaging	Het
Mdn1	T	A	4: 32,684,723 (GRCm39)	L811*	probably null	Het
Mettl8	T	C	2: 70,812,383 (GRCm39)	D84G	possibly damaging	Het
Miga1	T	G	3: 151,993,186 (GRCm39)	T412P	probably benign	Het
Mtor	G	T	4: 148,632,092 (GRCm39)	R2322L	possibly damaging	Het
Muc16	T	C	9: 18,567,147 (GRCm39)	N1791D	unknown	Het
Myo9b	C	G	8: 71,743,075 (GRCm39)	S45R	possibly damaging	Het
Nup50l	A	T	6: 96,142,156 (GRCm39)	L296Q	possibly damaging	Het
Olfm4	T	C	14: 80,243,747 (GRCm39)	F105S	probably damaging	Het
Or5af2	A	T	11: 58,708,370 (GRCm39)	I179F	possibly damaging	Het
Osbpl1a	T	C	18: 13,015,277 (GRCm39)	I384V	probably benign	Het
Pcnx1	T	C	12: 82,030,435 (GRCm39)	L1131P		Het
Pex6	T	A	17: 47,035,322 (GRCm39)	V827E	probably damaging	Het
Plek	A	C	11: 16,940,119 (GRCm39)	S197A	probably benign	Het
Pmpca	T	C	2: 26,282,598 (GRCm39)	Y269H	probably benign	Het
Pop1	T	C	15: 34,512,881 (GRCm39)	I493T	probably benign	Het
Rap1gap2	T	C	11: 74,283,954 (GRCm39)	N615D	probably benign	Het
Rtp3	T	C	9: 110,815,198 (GRCm39)	Y389C	unknown	Het
Rusf1	T	A	7: 127,875,676 (GRCm39)	D253V	possibly damaging	Het
Sardh	T	C	2: 27,120,513 (GRCm39)	Q423R	probably benign	Het
Slc11a1	T	C	1: 74,422,688 (GRCm39)		probably null	Het
Slc5a4b	T	C	10: 75,896,239 (GRCm39)	D572G	probably damaging	Het
Slco1a8	T	G	6: 141,949,234 (GRCm39)		probably null	Het
Slfn14	A	G	11: 83,170,048 (GRCm39)	V532A	probably benign	Het
Stxbp1	T	C	2: 32,701,120 (GRCm39)	Y264C	possibly damaging	Het
Syce1l	T	C	8: 114,381,750 (GRCm39)	I230T	unknown	Het
Taf5l	T	C	8: 124,730,173 (GRCm39)	Y172C		Het
Trpc4	A	T	3: 54,102,248 (GRCm39)	K49*	probably null	Het
Ttc13	A	G	8: 125,415,284 (GRCm39)	V285A	probably benign	Het
Ttc17	A	T	2: 94,204,890 (GRCm39)	L344Q	probably damaging	Het
Unc79	A	G	12: 103,135,972 (GRCm39)	H2469R	probably benign	Het
Xkr7	A	G	2: 152,896,393 (GRCm39)	I416V	probably benign	Het
Zeb2	C	A	2: 44,987,180 (GRCm39)	D35Y	unknown	Het
Zfp28	A	G	7: 6,397,917 (GRCm39)	H784R	probably benign	Het
Zfp644	A	C	5: 106,783,909 (GRCm39)	S848R	probably benign	Het
Zfp809	G	A	9: 22,150,384 (GRCm39)	E294K	possibly damaging	Het
Zfp820	A	G	17: 22,038,861 (GRCm39)	Y156H	probably benign	Het

Other mutations in Spmip10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02487:Spmip10	APN	18	56,727,571 (GRCm39)	missense	possibly damaging	0.74
R1570:Spmip10	UTSW	18	56,727,606 (GRCm39)	missense	probably benign	0.06
R2062:Spmip10	UTSW	18	56,721,535 (GRCm39)	nonsense	probably null
R4411:Spmip10	UTSW	18	56,727,720 (GRCm39)	missense	probably benign	0.03
R4970:Spmip10	UTSW	18	56,725,494 (GRCm39)	missense	possibly damaging	0.71
R5543:Spmip10	UTSW	18	56,727,760 (GRCm39)	utr 3 prime	probably benign
R8056:Spmip10	UTSW	18	56,727,763 (GRCm39)	missense
R8137:Spmip10	UTSW	18	56,727,653 (GRCm39)	missense	probably damaging	1.00
R8165:Spmip10	UTSW	18	56,722,547 (GRCm39)	intron	probably benign
R8786:Spmip10	UTSW	18	56,727,568 (GRCm39)	missense	probably damaging	0.99
R8919:Spmip10	UTSW	18	56,725,537 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGGCTGCTGAGAGATTTAAAGG -3'
(R):5'- CAAATGAGTCTGATATGACCTTCTC -3'

Sequencing Primer
(F):5'- CTGAGAGATTTAAAGGGTTGGCTCAC -3'
(R):5'- CAGGTCAGACTCAAGCTGTCAG -3'

Posted On

2022-09-12