Mutagenetix > Incidental Mutation

Incidental Mutation 'R9193:Spata31g1'

697794

Institutional Source

Beutler Lab

Gene Symbol

Spata31g1

Ensembl Gene

ENSMUSG00000028451

Gene Name

SPATA31 subfamily G member 1

Synonyms

1700022I11Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9193 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

42969946-42974325 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 42971519 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 284 (D284G)

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 benign
Transcript: ENSMUST00000030163
AA Change: D284G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000030163
Gene: ENSMUSG00000028451
AA Change: D284G

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 benign
Transcript: ENSMUST00000185904

SMART Domains

Protein: ENSMUSP00000140492
Gene: ENSMUSG00000028451

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

Predicted Effect

probably benign
Transcript: ENSMUST00000190902

SMART Domains

Protein: ENSMUSP00000140363
Gene: ENSMUSG00000028451

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: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (61/61)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ak1	A	T	2: 32,520,391 (GRCm39)	K79M	probably benign	Het
Amy1	T	C	3: 113,356,278 (GRCm39)	K293E	probably benign	Het
Bcl2l10	A	G	9: 75,255,333 (GRCm39)	Q50R	probably benign	Het
Bpifa6	G	A	2: 153,826,740 (GRCm39)	G35D	probably benign	Het
Cachd1	C	A	4: 100,634,339 (GRCm39)	P5Q	unknown	Het
Capn13	A	T	17: 73,652,191 (GRCm39)	I266N	probably damaging	Het
Chil3	A	G	3: 106,063,081 (GRCm39)	S170P	possibly damaging	Het
Ckap4	A	G	10: 84,363,350 (GRCm39)	I571T	probably damaging	Het
Col14a1	A	G	15: 55,242,964 (GRCm39)	M371V	unknown	Het
Dag1	A	G	9: 108,085,467 (GRCm39)	L558P	possibly damaging	Het
Edem3	G	A	1: 151,694,270 (GRCm39)	E868K	probably benign	Het
Eif3k	T	C	7: 28,673,624 (GRCm39)	Y150C	probably damaging	Het
Farp1	T	C	14: 121,518,281 (GRCm39)	I988T	probably benign	Het
Fat3	A	G	9: 15,910,248 (GRCm39)	M1918T	probably benign	Het
Gba2	A	G	4: 43,578,112 (GRCm39)	I79T	probably benign	Het
Gbp8	T	C	5: 105,179,169 (GRCm39)	D110G	probably damaging	Het
Gm57858	G	T	3: 36,089,428 (GRCm39)	N165K	probably benign	Het
H2-M2	T	A	17: 37,793,428 (GRCm39)	M193L	probably benign	Het
H2-T13	A	G	17: 36,391,956 (GRCm39)	V39A	possibly damaging	Het
Ighv7-1	T	A	12: 113,860,110 (GRCm39)	D94V	probably damaging	Het
Il2ra	T	C	2: 11,689,202 (GRCm39)	F244L	possibly damaging	Het
Jag1	A	T	2: 136,931,764 (GRCm39)	H602Q	probably null	Het
Kidins220	A	T	12: 25,036,966 (GRCm39)	I16F	possibly damaging	Het
Klb	A	G	5: 65,529,368 (GRCm39)	T299A	possibly damaging	Het
Lama4	A	G	10: 38,951,444 (GRCm39)	K1063R	probably benign	Het
Lrit2	A	G	14: 36,794,550 (GRCm39)	E538G	possibly damaging	Het
Lrrc7	A	T	3: 158,059,011 (GRCm39)	L32*	probably null	Het
Lrrtm3	A	T	10: 63,765,883 (GRCm39)	I568N	probably damaging	Het
Myom1	A	G	17: 71,343,295 (GRCm39)	D164G	probably damaging	Het
Naaladl2	T	C	3: 23,900,742 (GRCm39)	D696G	probably damaging	Het
Nalcn	A	T	14: 123,545,792 (GRCm39)	L1073*	probably null	Het
Nid2	T	C	14: 19,853,278 (GRCm39)	S1166P	probably damaging	Het
Nlrp4c	T	C	7: 6,095,621 (GRCm39)	V833A	probably benign	Het
Nyap2	T	C	1: 81,275,712 (GRCm39)	S619P	probably damaging	Het
Or10d5j	T	C	9: 39,867,878 (GRCm39)	M118V	probably damaging	Het
Or2a20	A	T	6: 43,194,086 (GRCm39)	T80S	probably benign	Het
Or4a71	A	G	2: 89,357,987 (GRCm39)	Y256H	probably damaging	Het
Or8k16	C	A	2: 85,520,644 (GRCm39)	Y290*	probably null	Het
P3h2	T	C	16: 25,923,991 (GRCm39)	N148S	probably benign	Het
P4htm	A	G	9: 108,460,081 (GRCm39)	M231T	probably damaging	Het
Pank1	T	A	19: 34,804,634 (GRCm39)	K349I	possibly damaging	Het
Pgam5	A	G	5: 110,413,466 (GRCm39)	Y210H	probably benign	Het
Prb1b	T	C	6: 132,288,996 (GRCm39)	H276R	unknown	Het
Prl2a1	T	A	13: 27,992,535 (GRCm39)	C220S	probably damaging	Het
Psca	C	T	15: 74,587,932 (GRCm39)	Q39*	probably null	Het
Rgs20	A	T	1: 5,091,067 (GRCm39)	M121K	possibly damaging	Het
S100z	C	T	13: 95,613,883 (GRCm39)	V76M	possibly damaging	Het
Slc30a10	T	C	1: 185,195,034 (GRCm39)	I282T	probably damaging	Het
Slc30a3	T	C	5: 31,246,088 (GRCm39)	Y214C	probably damaging	Het
Sox5	C	T	6: 143,790,570 (GRCm39)	E497K	probably benign	Het
Sptbn1	C	T	11: 30,087,551 (GRCm39)	E963K	possibly damaging	Het
Srl	T	C	16: 4,311,723 (GRCm39)	E465G	possibly damaging	Het
Tacc2	T	C	7: 130,228,304 (GRCm39)	M1663T	probably benign	Het
Tas2r119	T	G	15: 32,177,932 (GRCm39)	V166G	probably benign	Het
Tcf7l1	A	G	6: 72,611,205 (GRCm39)	V191A	probably damaging	Het
Thap7	A	T	16: 17,346,901 (GRCm39)	I92K	probably damaging	Het
Tnfsf10	A	G	3: 27,371,407 (GRCm39)	T38A	possibly damaging	Het
Trav7-5	C	G	14: 53,768,615 (GRCm39)	A61G	probably benign	Het
Trim30c	C	T	7: 104,031,553 (GRCm39)	V421I	probably benign	Het
Ugt2b38	A	T	5: 87,571,729 (GRCm39)	M101K	probably benign	Het
Vmn1r44	T	A	6: 89,870,565 (GRCm39)	C104S	probably damaging	Het
Wdr74	T	A	19: 8,715,240 (GRCm39)	V133E	probably damaging	Het
Zfp735	A	T	11: 73,580,600 (GRCm39)	Y33F	possibly damaging	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:Spata31g1	UTSW	4	42,971,087 (GRCm39)	missense	probably damaging	1.00
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
R9569:Spata31g1	UTSW	4	42,971,740 (GRCm39)	missense	probably benign	0.10

Predicted Primers

Posted On

2022-02-07