Mutagenetix > Incidental Mutation

Incidental Mutation 'R8774:Spata31g1'

664591

Institutional Source

Beutler Lab

Gene Symbol

Spata31g1

Ensembl Gene

ENSMUSG00000028451

Gene Name

SPATA31 subfamily G member 1

Synonyms

1700022I11Rik

MMRRC Submission

068628-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R8774 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

42969946-42974325 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 42971087 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 140 (L140P)

Ref Sequence

ENSEMBL: ENSMUSP00000030163 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030163] [ENSMUST00000139127] [ENSMUST00000185904] [ENSMUST00000190902]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000030163
AA Change: L140P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000030163
Gene: ENSMUSG00000028451
AA Change: L140P

Domain	Start	End	E-Value	Type
low complexity region	38	55	N/A	INTRINSIC
low complexity region	85	93	N/A	INTRINSIC
low complexity region	253	269	N/A	INTRINSIC
internal_repeat_1	322	432	6.53e-5	PROSPERO
low complexity region	434	449	N/A	INTRINSIC
low complexity region	507	521	N/A	INTRINSIC
low complexity region	599	610	N/A	INTRINSIC
internal_repeat_1	622	738	6.53e-5	PROSPERO
low complexity region	847	861	N/A	INTRINSIC
low complexity region	897	908	N/A	INTRINSIC
low complexity region	914	925	N/A	INTRINSIC
low complexity region	944	958	N/A	INTRINSIC
low complexity region	990	1001	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000139127

SMART Domains

Protein: ENSMUSP00000116415
Gene: ENSMUSG00000028451

Domain	Start	End	E-Value	Type
low complexity region	38	55	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000185904
AA Change: L80P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000140492
Gene: ENSMUSG00000028451
AA Change: L80P

Domain	Start	End	E-Value	Type
low complexity region	25	33	N/A	INTRINSIC
Pfam:FAM75	99	149	2e-5	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000190902
AA Change: L104P

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000140363
Gene: ENSMUSG00000028451
AA Change: L104P

Domain	Start	End	E-Value	Type
low complexity region	49	57	N/A	INTRINSIC
low complexity region	217	233	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (67/67)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	G	4: 53,090,358 (GRCm39)	S364P	possibly damaging	Het
Abcc2	T	A	19: 43,787,577 (GRCm39)	Y208N	probably damaging	Het
Acy1	A	T	9: 106,313,913 (GRCm39)	D82E	probably damaging	Het
Ankub1	A	G	3: 57,597,802 (GRCm39)	L56P	probably damaging	Het
Aoc1	T	A	6: 48,885,529 (GRCm39)	F678Y	probably damaging	Het
Asxl3	C	A	18: 22,657,101 (GRCm39)	Q1704K	probably damaging	Het
Atg9b	T	C	5: 24,595,571 (GRCm39)	D236G	probably damaging	Het
Auh	A	T	13: 52,993,631 (GRCm39)	M261K	probably benign	Het
C2cd6	A	T	1: 59,099,825 (GRCm39)	M372K	possibly damaging	Het
Ccdc88b	A	T	19: 6,825,090 (GRCm39)	N1287K	probably damaging	Het
Cebpz	A	G	17: 79,229,073 (GRCm39)	S958P	probably benign	Het
Cgn	T	A	3: 94,680,810 (GRCm39)	Q576L	probably damaging	Het
Chd7	T	A	4: 8,854,692 (GRCm39)	M2011K	probably damaging	Het
Cntnap4	A	G	8: 113,529,820 (GRCm39)	E676G	probably benign	Het
Cspp1	A	T	1: 10,183,139 (GRCm39)	E781D	possibly damaging	Het
Cyb5d2	A	C	11: 72,679,901 (GRCm39)		probably null	Het
Epn3	G	T	11: 94,383,220 (GRCm39)	P335T	possibly damaging	Het
Far2	T	A	6: 148,047,629 (GRCm39)	S103T	probably benign	Het
Fhip1a	G	C	3: 85,580,097 (GRCm39)	Q703E	probably benign	Het
Fhl2	A	G	1: 43,162,751 (GRCm39)	S255P	probably damaging	Het
Fmnl2	T	A	2: 52,932,321 (GRCm39)	V100D		Het
Gabbr1	T	C	17: 37,382,749 (GRCm39)	L814P	probably damaging	Het
Gzmg	C	T	14: 56,394,193 (GRCm39)	V234I	probably benign	Het
Ift172	A	G	5: 31,415,207 (GRCm39)	V1334A	probably benign	Het
Itga8	C	G	2: 12,187,495 (GRCm39)	G728A	probably damaging	Het
Klrg1	T	C	6: 122,255,193 (GRCm39)	T80A	probably benign	Het
Lrp4	A	G	2: 91,308,043 (GRCm39)	N496S	probably benign	Het
Lsmem1	G	T	12: 40,227,145 (GRCm39)	N113K	probably damaging	Het
Map3k2	G	A	18: 32,345,117 (GRCm39)	S314N	probably damaging	Het
Mtpap	C	T	18: 4,387,032 (GRCm39)	R361*	probably null	Het
Muc5b	T	A	7: 141,418,831 (GRCm39)	S3926T	probably benign	Het
Nat10	C	A	2: 103,561,752 (GRCm39)	R643L	probably damaging	Het
Ncbp3	T	C	11: 72,938,808 (GRCm39)	V28A	probably benign	Het
Nlrp9a	T	C	7: 26,257,984 (GRCm39)	L534P	possibly damaging	Het
Nmi	T	C	2: 51,848,974 (GRCm39)	K39E	probably benign	Het
Nxpe4	A	G	9: 48,304,692 (GRCm39)	N260D	probably benign	Het
Or4k38	T	C	2: 111,166,318 (GRCm39)	Y35C	probably damaging	Het
Or51aa2	C	A	7: 103,187,965 (GRCm39)	V159L	probably benign	Het
Or6c213	T	A	10: 129,573,926 (GRCm39)	I287F	probably damaging	Het
Or8c19-ps1	G	A	9: 38,220,600 (GRCm39)	A170T	unknown	Het
Phf2	G	T	13: 48,971,878 (GRCm39)		probably benign	Het
Pirb	G	T	7: 3,720,728 (GRCm39)	L257M	probably damaging	Het
Plcg2	A	T	8: 118,306,585 (GRCm39)	D313V	possibly damaging	Het
Ppard	G	A	17: 28,517,864 (GRCm39)	V311I	possibly damaging	Het
Ptcd1	A	T	5: 145,092,175 (GRCm39)	M308K	probably damaging	Het
Pygo1	A	G	9: 72,852,436 (GRCm39)	N208D	possibly damaging	Het
Robo1	T	G	16: 72,832,719 (GRCm39)	D1497E	probably benign	Het
Sdk2	T	C	11: 113,730,169 (GRCm39)	D1022G	probably damaging	Het
Shc3	G	A	13: 51,615,475 (GRCm39)	H161Y	probably damaging	Het
Slc15a1	G	T	14: 121,724,423 (GRCm39)	Q150K	probably damaging	Het
Slc6a11	C	A	6: 114,206,995 (GRCm39)		probably benign	Het
Sod1	T	G	16: 90,023,039 (GRCm39)	V120G	probably damaging	Het
Sprr2f	T	A	3: 92,273,323 (GRCm39)	C41S	unknown	Het
Svil	A	T	18: 5,049,068 (GRCm39)	Y115F	probably damaging	Het
Tdp1	T	C	12: 99,877,917 (GRCm39)	S400P	probably damaging	Het
Thbs4	A	T	13: 92,898,030 (GRCm39)	D596E	probably damaging	Het
Tshz1	T	A	18: 84,033,101 (GRCm39)	M436L	possibly damaging	Het
Ube3c	C	T	5: 29,812,029 (GRCm39)	T423I	probably benign	Het
Unc93a	A	T	17: 13,341,837 (GRCm39)	I98N	probably damaging	Het
Usp33	T	A	3: 152,085,213 (GRCm39)	Y624*	probably null	Het
Utp20	A	G	10: 88,588,763 (GRCm39)		probably benign	Het
Vmn1r217	T	A	13: 23,298,108 (GRCm39)	M265L	probably benign	Het
Vmn1r222	A	T	13: 23,416,418 (GRCm39)	M265K	probably benign	Het
Vmn2r16	C	T	5: 109,488,231 (GRCm39)	T368M	probably benign	Het
Zfp867	A	G	11: 59,354,837 (GRCm39)	F164S	probably damaging	Het
Zswim1	C	T	2: 164,668,062 (GRCm39)	T438I	probably benign	Het

Other mutations in Spata31g1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00161:Spata31g1	APN	4	42,973,982 (GRCm39)	missense	probably benign	0.40
IGL01340:Spata31g1	APN	4	42,971,984 (GRCm39)	missense	possibly damaging	0.94
IGL02078:Spata31g1	APN	4	42,972,685 (GRCm39)	missense	possibly damaging	0.71
IGL02082:Spata31g1	APN	4	42,970,198 (GRCm39)	missense	probably benign	0.00
IGL02993:Spata31g1	APN	4	42,971,719 (GRCm39)	missense	probably damaging	0.99
IGL03174:Spata31g1	APN	4	42,970,975 (GRCm39)	missense	probably benign	0.00
IGL03188:Spata31g1	APN	4	42,971,225 (GRCm39)	missense	possibly damaging	0.56
R0031:Spata31g1	UTSW	4	42,973,712 (GRCm39)	missense	probably damaging	0.99
R0179:Spata31g1	UTSW	4	42,972,214 (GRCm39)	missense	probably benign	0.00
R0409:Spata31g1	UTSW	4	42,972,203 (GRCm39)	missense	probably damaging	0.98
R0422:Spata31g1	UTSW	4	42,972,199 (GRCm39)	missense	possibly damaging	0.95
R0462:Spata31g1	UTSW	4	42,973,429 (GRCm39)	missense	probably benign
R0467:Spata31g1	UTSW	4	42,972,715 (GRCm39)	missense	probably benign
R0677:Spata31g1	UTSW	4	42,970,952 (GRCm39)	nonsense	probably null
R0723:Spata31g1	UTSW	4	42,971,691 (GRCm39)	missense	probably damaging	0.98
R1479:Spata31g1	UTSW	4	42,972,543 (GRCm39)	missense	possibly damaging	0.55
R1586:Spata31g1	UTSW	4	42,971,512 (GRCm39)	missense	probably benign	0.03
R1956:Spata31g1	UTSW	4	42,970,105 (GRCm39)	splice site	probably null
R2030:Spata31g1	UTSW	4	42,974,131 (GRCm39)	nonsense	probably null
R2074:Spata31g1	UTSW	4	42,974,171 (GRCm39)	missense	probably benign	0.38
R2162:Spata31g1	UTSW	4	42,972,238 (GRCm39)	missense	possibly damaging	0.59
R2419:Spata31g1	UTSW	4	42,974,146 (GRCm39)	missense	possibly damaging	0.94
R2939:Spata31g1	UTSW	4	42,972,946 (GRCm39)	missense	probably benign	0.04
R3615:Spata31g1	UTSW	4	42,971,864 (GRCm39)	missense	probably benign	0.10
R3616:Spata31g1	UTSW	4	42,971,864 (GRCm39)	missense	probably benign	0.10
R3981:Spata31g1	UTSW	4	42,971,534 (GRCm39)	missense	probably damaging	0.99
R5037:Spata31g1	UTSW	4	42,972,195 (GRCm39)	missense	probably benign
R5252:Spata31g1	UTSW	4	42,971,706 (GRCm39)	missense	probably benign	0.00
R5526:Spata31g1	UTSW	4	42,972,125 (GRCm39)	missense	possibly damaging	0.90
R5642:Spata31g1	UTSW	4	42,971,831 (GRCm39)	missense	possibly damaging	0.61
R5935:Spata31g1	UTSW	4	42,971,465 (GRCm39)	missense	probably benign
R6082:Spata31g1	UTSW	4	42,972,511 (GRCm39)	missense	probably benign	0.27
R6136:Spata31g1	UTSW	4	42,972,853 (GRCm39)	missense	probably damaging	0.96
R6361:Spata31g1	UTSW	4	42,972,695 (GRCm39)	missense	probably benign	0.05
R6494:Spata31g1	UTSW	4	42,971,924 (GRCm39)	missense	possibly damaging	0.94
R6641:Spata31g1	UTSW	4	42,971,245 (GRCm39)	missense	possibly damaging	0.90
R7289:Spata31g1	UTSW	4	42,973,252 (GRCm39)	missense	possibly damaging	0.66
R7289:Spata31g1	UTSW	4	42,972,379 (GRCm39)	missense	probably benign	0.00
R7777:Spata31g1	UTSW	4	42,971,095 (GRCm39)	missense	probably benign
R7777:Spata31g1	UTSW	4	42,970,171 (GRCm39)	nonsense	probably null
R7893:Spata31g1	UTSW	4	42,971,539 (GRCm39)	missense	probably damaging	0.99
R8066:Spata31g1	UTSW	4	42,971,929 (GRCm39)	missense	possibly damaging	0.66
R8311:Spata31g1	UTSW	4	42,973,169 (GRCm39)	missense	probably benign	0.19
R8706:Spata31g1	UTSW	4	42,971,776 (GRCm39)	missense	probably benign	0.02
R8743:Spata31g1	UTSW	4	42,971,030 (GRCm39)	missense	probably benign	0.00
R8774-TAIL:Spata31g1	UTSW	4	42,971,087 (GRCm39)	missense	probably damaging	1.00
R8806:Spata31g1	UTSW	4	42,971,261 (GRCm39)	missense	probably benign	0.37
R8916:Spata31g1	UTSW	4	42,973,034 (GRCm39)	missense	probably damaging	1.00
R8927:Spata31g1	UTSW	4	42,972,251 (GRCm39)	missense	probably benign	0.00
R8928:Spata31g1	UTSW	4	42,972,251 (GRCm39)	missense	probably benign	0.00
R8947:Spata31g1	UTSW	4	42,972,097 (GRCm39)	missense	probably benign	0.17
R9193:Spata31g1	UTSW	4	42,971,519 (GRCm39)	missense	probably benign	0.01
R9569:Spata31g1	UTSW	4	42,971,740 (GRCm39)	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- ACAACTTCTGTACCATTTGGCC -3'
(R):5'- TAGTGGAGAGGGACCATCTG -3'

Sequencing Primer
(F):5'- TTGCCTGTGGAAGCAAAAATC -3'
(R):5'- CTGAGCTCAGGAAAATAGTCTTCAAG -3'

Posted On

2021-03-08