Mutagenetix > Incidental Mutation

Incidental Mutation 'R9626:Spmip4'

725144

Institutional Source

Beutler Lab

Gene Symbol

Spmip4

Ensembl Gene

ENSMUSG00000029828

Gene Name

sperm microtubule inner protein 4

Synonyms

4921507P07Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R9626 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

50550282-50573612 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 50550930 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 506 (K506N)

Ref Sequence

ENSEMBL: ENSMUSP00000031852 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031852]

AlphaFold

no structure available at present

Predicted Effect

SMART Domains

Protein: ENSMUSP00000031852
Gene: ENSMUSG00000029828
AA Change: K506N

Domain	Start	End	E-Value	Type
Pfam:DUF4555	1	283	2e-149	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	T	A	6: 23,127,502 (GRCm39)	N37I	unknown	Het
Abca9	T	A	11: 110,011,606 (GRCm39)	T1146S	probably benign	Het
Acnat2	G	A	4: 49,380,179 (GRCm39)	H400Y	probably damaging	Het
Adgrd1	T	C	5: 129,275,721 (GRCm39)	S768P	probably damaging	Het
Arap2	T	A	5: 62,906,878 (GRCm39)	H47L	probably benign	Het
Atxn1	T	A	13: 45,710,796 (GRCm39)	N712I	possibly damaging	Het
Bri3bp	T	A	5: 125,531,572 (GRCm39)	S173T	probably damaging	Het
Camta1	A	T	4: 151,168,287 (GRCm39)	S254R	probably damaging	Het
Card9	T	C	2: 26,247,294 (GRCm39)	E285G	probably benign	Het
Celf2	G	A	2: 6,590,835 (GRCm39)	A320V	probably benign	Het
Celsr3	T	C	9: 108,726,521 (GRCm39)	I3250T	probably damaging	Het
Cfap46	C	T	7: 139,230,805 (GRCm39)	R941H		Het
Cntrob	T	C	11: 69,202,167 (GRCm39)	H475R	possibly damaging	Het
Dcaf6	G	A	1: 165,227,264 (GRCm39)	R288*	probably null	Het
Ebna1bp2	G	A	4: 118,478,371 (GRCm39)		probably benign	Het
Erich3	A	T	3: 154,444,730 (GRCm39)	D302V	probably benign	Het
Fbxo48	T	A	11: 16,904,333 (GRCm39)	*162K	probably null	Het
Fyttd1	T	C	16: 32,725,915 (GRCm39)	L290S	probably damaging	Het
Gcc1	T	C	6: 28,418,917 (GRCm39)	D472G	probably damaging	Het
Gjb4	C	T	4: 127,246,081 (GRCm39)		probably benign	Het
Gm5157	G	T	7: 20,919,396 (GRCm39)	T49K	probably damaging	Het
Gpr143	GTTTTTT	GTTTTTTT	X: 151,578,627 (GRCm39)		probably null	Het
Hnrnpm	G	T	17: 33,896,264 (GRCm39)	D88E	probably damaging	Het
Hormad2	G	A	11: 4,377,372 (GRCm39)	P22L	probably damaging	Het
Hunk	C	T	16: 90,272,791 (GRCm39)	T365M	probably damaging	Het
Lamb1	A	G	12: 31,354,669 (GRCm39)	D972G	probably benign	Het
Mamdc4	A	G	2: 25,458,273 (GRCm39)	L379P	probably damaging	Het
Mcrs1	A	G	15: 99,146,353 (GRCm39)	L179P	probably damaging	Het
Mterf2	C	T	10: 84,956,295 (GRCm39)	A110T	probably benign	Het
Mucl1	A	G	15: 103,783,934 (GRCm39)	S91P	possibly damaging	Het
Myo1d	C	A	11: 80,448,296 (GRCm39)	G943V	possibly damaging	Het
Ndst4	A	C	3: 125,476,829 (GRCm39)	D18A	probably damaging	Het
Ndufv1	A	T	19: 4,058,064 (GRCm39)	C382*	probably null	Het
Npc1l1	T	C	11: 6,177,854 (GRCm39)	K519E	probably benign	Het
Nphs1	A	G	7: 30,166,991 (GRCm39)	K747E	probably benign	Het
Nubp2	C	G	17: 25,103,374 (GRCm39)		probably null	Het
Odad2	G	T	18: 7,211,422 (GRCm39)	C817*	probably null	Het
Or13a19	T	C	7: 139,903,236 (GRCm39)	V208A	probably benign	Het
Or5b97	A	T	19: 12,878,600 (GRCm39)	D181E	possibly damaging	Het
Or7a36	T	G	10: 78,820,213 (GRCm39)	D196E	probably benign	Het
Or7a40	A	G	16: 16,491,491 (GRCm39)	M118T	probably damaging	Het
Or8b48	A	G	9: 38,492,977 (GRCm39)	T135A	probably benign	Het
Pcdhac2	T	G	18: 37,279,555 (GRCm39)	L845R	probably damaging	Het
Pcdhb14	A	C	18: 37,581,787 (GRCm39)	T298P	probably damaging	Het
Phldb2	A	T	16: 45,592,547 (GRCm39)	L957Q	possibly damaging	Het
Pole	A	G	5: 110,459,959 (GRCm39)	D1121G	possibly damaging	Het
Ppp1r3g	C	A	13: 36,153,612 (GRCm39)	T344K	probably benign	Het
Prpf8	A	G	11: 75,385,681 (GRCm39)	K954R	possibly damaging	Het
Prr15l	C	A	11: 96,825,440 (GRCm39)	Y23*	probably null	Het
Sap18b	A	G	8: 96,552,098 (GRCm39)	E36G	possibly damaging	Het
Slc46a2	A	T	4: 59,914,241 (GRCm39)	F227L	probably benign	Het
Spata13	C	T	14: 60,944,349 (GRCm39)	P581S	probably benign	Het
Ssc5d	C	A	7: 4,946,568 (GRCm39)	T974K	probably benign	Het
Tenm4	C	A	7: 96,545,345 (GRCm39)	R2491S	probably damaging	Het
Tex2	T	C	11: 106,437,579 (GRCm39)	E697G	unknown	Het
Tmem44	A	T	16: 30,366,226 (GRCm39)	F67I	possibly damaging	Het
Trpm6	A	T	19: 18,790,846 (GRCm39)	Q627L	probably damaging	Het
Ttc39a	A	G	4: 109,278,570 (GRCm39)	D77G	possibly damaging	Het
Ttc9	A	G	12: 81,710,301 (GRCm39)	I198V	probably benign	Het
Ttn	C	T	2: 76,661,550 (GRCm39)	V11942M	unknown	Het
Uqcrc2	T	A	7: 120,237,118 (GRCm39)	Y55*	probably null	Het
Vmn1r160	A	T	7: 22,571,273 (GRCm39)	M209L	probably benign	Het
Vmn2r50	A	T	7: 9,771,960 (GRCm39)	C580*	probably null	Het
Vmn2r96	A	G	17: 18,793,758 (GRCm39)	E34G	probably benign	Het
Zmynd8	C	T	2: 165,654,268 (GRCm39)		probably null	Het

Other mutations in Spmip4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00852:Spmip4	APN	6	50,566,164 (GRCm39)	critical splice acceptor site	probably null
IGL01310:Spmip4	APN	6	50,551,175 (GRCm39)	missense	probably benign
IGL01568:Spmip4	APN	6	50,550,678 (GRCm39)	utr 3 prime	probably benign
IGL01794:Spmip4	APN	6	50,554,826 (GRCm39)	missense	probably damaging	1.00
IGL02718:Spmip4	APN	6	50,561,367 (GRCm39)	missense	probably damaging	1.00
IGL03146:Spmip4	APN	6	50,550,853 (GRCm39)	missense	probably damaging	0.97
IGL03381:Spmip4	APN	6	50,566,116 (GRCm39)	missense	probably damaging	1.00
R1173:Spmip4	UTSW	6	50,566,121 (GRCm39)	missense	probably damaging	0.98
R1174:Spmip4	UTSW	6	50,566,121 (GRCm39)	missense	probably damaging	0.98
R1175:Spmip4	UTSW	6	50,566,121 (GRCm39)	missense	probably damaging	0.98
R1769:Spmip4	UTSW	6	50,568,801 (GRCm39)	splice site	probably benign
R1883:Spmip4	UTSW	6	50,551,433 (GRCm39)	missense	probably benign	0.01
R2056:Spmip4	UTSW	6	50,550,725 (GRCm39)	missense	possibly damaging	0.71
R2437:Spmip4	UTSW	6	50,560,959 (GRCm39)	missense	probably damaging	1.00
R2929:Spmip4	UTSW	6	50,551,285 (GRCm39)	missense	probably benign	0.07
R4357:Spmip4	UTSW	6	50,551,190 (GRCm39)	missense	probably benign
R4666:Spmip4	UTSW	6	50,572,808 (GRCm39)	missense	possibly damaging	0.69
R4791:Spmip4	UTSW	6	50,572,817 (GRCm39)	missense	probably damaging	1.00
R4827:Spmip4	UTSW	6	50,572,836 (GRCm39)	missense	possibly damaging	0.76
R4976:Spmip4	UTSW	6	50,566,164 (GRCm39)	critical splice acceptor site	probably null
R5453:Spmip4	UTSW	6	50,572,776 (GRCm39)	critical splice donor site	probably null
R6689:Spmip4	UTSW	6	50,566,089 (GRCm39)	critical splice donor site	probably null
R6897:Spmip4	UTSW	6	50,566,145 (GRCm39)	missense	possibly damaging	0.82
R7718:Spmip4	UTSW	6	50,566,078 (GRCm39)	splice site	probably null
R8475:Spmip4	UTSW	6	50,566,107 (GRCm39)	missense	probably damaging	0.99
R8885:Spmip4	UTSW	6	50,551,028 (GRCm39)	missense	possibly damaging	0.95
R8975:Spmip4	UTSW	6	50,561,391 (GRCm39)	missense	probably damaging	1.00
X0021:Spmip4	UTSW	6	50,550,906 (GRCm39)	missense	probably benign
Z1176:Spmip4	UTSW	6	50,551,001 (GRCm39)	missense	possibly damaging	0.55
Z1177:Spmip4	UTSW	6	50,568,672 (GRCm39)	missense	probably benign	0.17

Predicted Primers

PCR Primer
(F):5'- CACACTGCAGTTTATCTCGGAG -3'
(R):5'- AGACAGATGATTTGTACTGGAGAC -3'

Sequencing Primer
(F):5'- CAGTTTATCTCGGAGGTCTTTTTG -3'
(R):5'- AGCTGGAGATGAAGCCCCTC -3'

Posted On

2022-09-12