Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01307:Spata31f1a'

73472

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Spata31f1a

Ensembl Gene

ENSMUSG00000078721

Gene Name

spermatogenesis associated 31 subfamily F member 1A

Synonyms

Fam205a1, Gm12429

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

IGL01307

Quality Score

Status

Chromosome

Chromosomal Location

42848071-42853888 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 42850963 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Isoleucine at position 398 (L398I)

Ref Sequence

ENSEMBL: ENSMUSP00000103613 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068158] [ENSMUST00000107979] [ENSMUST00000107981] [ENSMUST00000107984]

AlphaFold

D3YZF6

Predicted Effect

probably benign
Transcript: ENSMUST00000068158

SMART Domains

Protein: ENSMUSP00000068585
Gene: ENSMUSG00000054885

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
low complexity region	72	88	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107979
AA Change: L398I

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000103613
Gene: ENSMUSG00000078721
AA Change: L398I

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
Pfam:DUF4599	52	137	5e-26	PFAM
low complexity region	169	179	N/A	INTRINSIC
internal_repeat_1	278	314	8.5e-5	PROSPERO
Pfam:FAM75	409	493	4.3e-10	PFAM
Pfam:FAM75	453	628	1.2e-12	PFAM
low complexity region	1160	1172	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107981

SMART Domains

Protein: ENSMUSP00000103615
Gene: ENSMUSG00000078722

Domain	Start	End	E-Value	Type
Pfam:DUF4599	1	56	1.4e-15	PFAM
low complexity region	87	104	N/A	INTRINSIC
Pfam:FAM75	157	279	9.4e-9	PFAM
Pfam:FAM75	322	366	6.1e-10	PFAM
Pfam:FAM75	365	543	8.3e-11	PFAM
low complexity region	882	895	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107984

SMART Domains

Protein: ENSMUSP00000103618
Gene: ENSMUSG00000054885

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
low complexity region	72	88	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,247,159 (GRCm39)	M2302K	possibly damaging	Het
Actl9	A	G	17: 33,653,152 (GRCm39)	E404G	probably damaging	Het
Adamts12	A	T	15: 11,237,632 (GRCm39)	I314L	possibly damaging	Het
Card6	C	A	15: 5,129,484 (GRCm39)	M637I	possibly damaging	Het
Ccdc122	G	A	14: 77,329,516 (GRCm39)		probably benign	Het
Cdh10	A	G	15: 18,899,886 (GRCm39)	D71G	probably benign	Het
Cdk15	A	T	1: 59,326,955 (GRCm39)	Y214F	probably benign	Het
Cdon	A	G	9: 35,368,860 (GRCm39)	K365E	probably benign	Het
Cyp2c37	T	C	19: 39,981,023 (GRCm39)	V47A	probably benign	Het
Ddc	T	A	11: 11,789,462 (GRCm39)	D271V	probably damaging	Het
Dnah6	G	A	6: 73,042,708 (GRCm39)	A3290V	probably damaging	Het
Dtl	A	T	1: 191,302,811 (GRCm39)	S20T	possibly damaging	Het
Egf	A	C	3: 129,533,642 (GRCm39)	I66S	probably damaging	Het
Eif4a3	T	C	11: 119,184,387 (GRCm39)	K268E	probably damaging	Het
Fbxl16	A	T	17: 26,038,338 (GRCm39)		probably benign	Het
Fez2	C	T	17: 78,689,029 (GRCm39)		probably benign	Het
Fras1	C	A	5: 96,929,551 (GRCm39)	T3985K	probably benign	Het
Gbp4	T	C	5: 105,284,887 (GRCm39)	M1V	probably null	Het
Gpnmb	A	G	6: 49,022,299 (GRCm39)	D143G	probably benign	Het
Grm5	A	T	7: 87,724,220 (GRCm39)	T837S	probably damaging	Het
Hmcn1	T	C	1: 150,620,752 (GRCm39)	T1153A	possibly damaging	Het
Hp	C	T	8: 110,302,415 (GRCm39)	V178I	probably benign	Het
Macf1	A	T	4: 123,276,922 (GRCm39)	V4061E	probably damaging	Het
Msto1	C	A	3: 88,820,993 (GRCm39)	R34L	probably benign	Het
Mtf2	C	T	5: 108,254,756 (GRCm39)	T519M	probably damaging	Het
Myo3a	T	A	2: 22,448,301 (GRCm39)	N25K	probably damaging	Het
Ncapd2	A	G	6: 125,145,582 (GRCm39)	V1355A	possibly damaging	Het
Nhlrc2	C	A	19: 56,540,231 (GRCm39)	Y73*	probably null	Het
Nwd2	A	T	5: 63,965,626 (GRCm39)	S1737C	possibly damaging	Het
Or1p1	T	A	11: 74,180,254 (GRCm39)	C261S	possibly damaging	Het
Osmr	A	G	15: 6,873,908 (GRCm39)	V163A	probably damaging	Het
Palm3	T	C	8: 84,756,074 (GRCm39)	S529P	possibly damaging	Het
Pcnt	A	G	10: 76,247,422 (GRCm39)	Y1037H	probably damaging	Het
Pkhd1l1	T	C	15: 44,393,425 (GRCm39)	I1920T	possibly damaging	Het
Plekha7	A	G	7: 115,744,479 (GRCm39)		probably benign	Het
Psd	C	T	19: 46,303,097 (GRCm39)	G762R	probably damaging	Het
Psmb8	A	G	17: 34,418,210 (GRCm39)	T51A	probably benign	Het
Rbm12	A	C	2: 155,937,302 (GRCm39)		probably benign	Het
Rictor	T	A	15: 6,804,085 (GRCm39)		probably null	Het
Slc24a5	G	A	2: 124,922,800 (GRCm39)	G158S	probably damaging	Het
Stag1	A	G	9: 100,833,841 (GRCm39)		probably benign	Het
Tln2	A	G	9: 67,302,749 (GRCm39)	M74T	probably benign	Het
Trim24	C	A	6: 37,942,570 (GRCm39)	D957E	possibly damaging	Het
Trpa1	A	T	1: 14,966,771 (GRCm39)	M531K	probably benign	Het
Ttn	A	G	2: 76,736,637 (GRCm39)	Y4376H	possibly damaging	Het
Twsg1	T	C	17: 66,255,646 (GRCm39)		probably benign	Het
Usp34	T	A	11: 23,367,676 (GRCm39)	V1671E	probably damaging	Het
Vwa5b2	A	G	16: 20,423,020 (GRCm39)	D1006G	probably benign	Het

Other mutations in Spata31f1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01369:Spata31f1a	APN	4	42,852,548 (GRCm39)	splice site	probably null
IGL02737:Spata31f1a	APN	4	42,849,431 (GRCm39)	missense	possibly damaging	0.90
IGL02951:Spata31f1a	APN	4	42,850,696 (GRCm39)	missense	probably benign	0.03
IGL03190:Spata31f1a	APN	4	42,848,362 (GRCm39)	missense	probably benign	0.20
IGL03407:Spata31f1a	APN	4	42,850,528 (GRCm39)	missense	probably benign	0.00
R0285:Spata31f1a	UTSW	4	42,850,236 (GRCm39)	missense	probably benign	0.00
R0345:Spata31f1a	UTSW	4	42,851,116 (GRCm39)	missense	probably benign	0.00
R0373:Spata31f1a	UTSW	4	42,851,161 (GRCm39)	missense	probably benign	0.00
R0763:Spata31f1a	UTSW	4	42,851,238 (GRCm39)	missense	probably damaging	1.00
R1668:Spata31f1a	UTSW	4	42,848,424 (GRCm39)	missense	probably damaging	0.99
R2406:Spata31f1a	UTSW	4	42,851,696 (GRCm39)	missense	probably benign
R3722:Spata31f1a	UTSW	4	42,851,472 (GRCm39)	missense	probably benign	0.01
R4820:Spata31f1a	UTSW	4	42,851,815 (GRCm39)	missense	probably damaging	1.00
R5168:Spata31f1a	UTSW	4	42,851,488 (GRCm39)	missense	probably damaging	0.99
R6170:Spata31f1a	UTSW	4	42,849,345 (GRCm39)	missense	probably benign	0.00
R6249:Spata31f1a	UTSW	4	42,850,528 (GRCm39)	missense	probably benign	0.00
R6357:Spata31f1a	UTSW	4	42,850,393 (GRCm39)	missense	probably damaging	1.00
R6496:Spata31f1a	UTSW	4	42,848,424 (GRCm39)	missense	probably damaging	0.99
R6894:Spata31f1a	UTSW	4	42,850,291 (GRCm39)	missense	probably benign	0.33
R7079:Spata31f1a	UTSW	4	42,851,718 (GRCm39)	missense	probably benign	0.17
R7881:Spata31f1a	UTSW	4	42,851,586 (GRCm39)	missense	probably benign	0.00
R7904:Spata31f1a	UTSW	4	42,850,765 (GRCm39)	missense	possibly damaging	0.53
R7938:Spata31f1a	UTSW	4	42,850,765 (GRCm39)	missense	possibly damaging	0.53
R8017:Spata31f1a	UTSW	4	42,850,840 (GRCm39)	missense	probably damaging	1.00
R8210:Spata31f1a	UTSW	4	42,848,542 (GRCm39)	missense	probably benign	0.00
R8385:Spata31f1a	UTSW	4	42,850,509 (GRCm39)	missense	possibly damaging	0.80
R8894:Spata31f1a	UTSW	4	42,853,688 (GRCm39)	missense	possibly damaging	0.87
R8981:Spata31f1a	UTSW	4	42,849,354 (GRCm39)	missense	probably benign	0.00
R9448:Spata31f1a	UTSW	4	42,850,250 (GRCm39)	nonsense	probably null
R9488:Spata31f1a	UTSW	4	42,850,560 (GRCm39)	missense	probably benign

Posted On

2013-10-07