Mutagenetix > Incidental Mutation

Incidental Mutation 'R0677:Spata31g1'

61668

Institutional Source

Beutler Lab

Gene Symbol

Spata31g1

Ensembl Gene

ENSMUSG00000028451

Gene Name

SPATA31 subfamily G member 1

Synonyms

1700022I11Rik

MMRRC Submission

038862-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R0677 (G1)

Quality Score

133

Status

Not validated

Chromosome

Chromosomal Location

42969946-42974325 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 42970952 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 59 (L59*)

Ref Sequence

ENSEMBL: ENSMUSP00000140363 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000030163
AA Change: L95*

SMART Domains

Protein: ENSMUSP00000030163
Gene: ENSMUSG00000028451
AA Change: L95*

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 null
Transcript: ENSMUST00000185904
AA Change: L35*

SMART Domains

Protein: ENSMUSP00000140492
Gene: ENSMUSG00000028451
AA Change: L35*

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189414

Predicted Effect

probably null
Transcript: ENSMUST00000190902
AA Change: L59*

SMART Domains

Protein: ENSMUSP00000140363
Gene: ENSMUSG00000028451
AA Change: L59*

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: 99.3%
3x: 98.8%
10x: 97.6%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630073D07Rik	G	A	6: 132,603,520 (GRCm39)	Q79*	probably null	Het
Apol8	A	C	15: 77,634,051 (GRCm39)	I175S	probably damaging	Het
BC004004	T	C	17: 29,517,638 (GRCm39)	F284S	probably damaging	Het
Cul7	T	A	17: 46,974,116 (GRCm39)	L1467H	probably damaging	Het
Dchs1	G	A	7: 105,414,191 (GRCm39)	R875C	probably damaging	Het
Depdc5	A	C	5: 33,058,814 (GRCm39)	N261T	probably damaging	Het
Flrt1	A	T	19: 7,073,544 (GRCm39)	C334*	probably null	Het
Galnt5	T	A	2: 57,888,992 (GRCm39)	Y197*	probably null	Het
Gp5	A	G	16: 30,127,193 (GRCm39)	S494P	probably benign	Het
Ifnlr1	T	A	4: 135,432,945 (GRCm39)	D460E	possibly damaging	Het
Mrgpra4	C	T	7: 47,630,728 (GRCm39)	S291N	probably benign	Het
Msh4	G	A	3: 153,585,004 (GRCm39)	P367S	possibly damaging	Het
Myct1	G	T	10: 5,554,261 (GRCm39)	V43F	probably benign	Het
Ndst2	G	A	14: 20,779,647 (GRCm39)	R198W	probably benign	Het
Ogdhl	A	T	14: 32,061,882 (GRCm39)	H500L	probably damaging	Het
Or52s1	C	T	7: 102,862,005 (GRCm39)	R302*	probably null	Het
Or6c2b	T	A	10: 128,947,947 (GRCm39)	M116L	probably damaging	Het
Pkhd1	C	T	1: 20,594,454 (GRCm39)	G1220S	probably benign	Het
Slc26a4	A	G	12: 31,599,910 (GRCm39)		probably null	Het
Sytl1	A	T	4: 132,980,536 (GRCm39)	C551S	possibly damaging	Het
Uri1	T	C	7: 37,664,925 (GRCm39)	N256D	probably benign	Het
Vmn2r114	T	G	17: 23,529,568 (GRCm39)	D178A	probably damaging	Het
Vmn2r23	C	T	6: 123,690,410 (GRCm39)	L429F	probably benign	Het
Washc2	T	C	6: 116,221,577 (GRCm39)	L685P	probably damaging	Het
Wipi2	A	T	5: 142,643,989 (GRCm39)	I124F	probably 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
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
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'- AGCTGGGTAAGTGACCACTGGTAG -3'
(R):5'- CCAAAATATGGGCTTCAGGGGTAGG -3'

Sequencing Primer
(F):5'- GTGACCACTGGTAGAGCTG -3'
(R):5'- CTTTAGTGGAGAGGGACCATC -3'

Posted On

2013-07-30