Mutagenetix > Incidental Mutation

Incidental Mutation 'R2913:Spata31d1d'

254765

Institutional Source

Beutler Lab

Gene Symbol

Spata31d1d

Ensembl Gene

ENSMUSG00000043986

Gene Name

spermatogenesis associated 31 subfamily D, member 1D

Synonyms

4932411G14Rik, Fam75d1d

MMRRC Submission

040500-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2913 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59873739-59879566 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59874769 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 922 (E922G)

Ref Sequence

ENSEMBL: ENSMUSP00000128200 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052978]

AlphaFold

E9Q5W2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000052978
AA Change: E922G

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000128200
Gene: ENSMUSG00000043986
AA Change: E922G

Domain	Start	End	E-Value	Type
transmembrane domain	21	43	N/A	INTRINSIC
Pfam:DUF4599	70	155	5.4e-28	PFAM
low complexity region	228	238	N/A	INTRINSIC
low complexity region	284	298	N/A	INTRINSIC
Pfam:FAM75	383	733	2.6e-93	PFAM
low complexity region	1017	1030	N/A	INTRINSIC
low complexity region	1111	1129	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224724

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.7%

Validation Efficiency

100% (58/58)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap2	T	C	16: 30,934,887 (GRCm39)	Q357R	probably damaging	Het
Adap1	C	T	5: 139,260,576 (GRCm39)		probably null	Het
Adgrf3	A	G	5: 30,401,992 (GRCm39)	S679P	probably damaging	Het
Aldh3b1	T	C	19: 3,971,275 (GRCm39)		probably benign	Het
Arih2	A	G	9: 108,521,275 (GRCm39)	S68P	probably damaging	Het
Cdcp3	T	C	7: 130,783,753 (GRCm39)	S49P	possibly damaging	Het
Col1a2	C	T	6: 4,519,923 (GRCm39)		probably benign	Het
Cplane1	T	C	15: 8,300,169 (GRCm39)	S3159P	unknown	Het
Crocc	C	T	4: 140,747,661 (GRCm39)	R1496H	probably damaging	Het
Cryl1	T	C	14: 57,513,375 (GRCm39)	E282G	probably benign	Het
Cyp11b1	T	C	15: 74,708,270 (GRCm39)	T402A	probably damaging	Het
Etfa	C	A	9: 55,389,613 (GRCm39)	A254S	probably damaging	Het
Fcgbpl1	A	T	7: 27,863,732 (GRCm39)	L2501F	probably damaging	Het
Fdxacb1	C	T	9: 50,679,699 (GRCm39)	A39V	probably benign	Het
Fras1	G	A	5: 96,881,774 (GRCm39)	R2502K	probably benign	Het
Gpr157	G	A	4: 150,183,222 (GRCm39)	V131I	probably benign	Het
Hbb-bh1	C	T	7: 103,492,254 (GRCm39)	E22K	possibly damaging	Het
Hmcn2	A	G	2: 31,350,222 (GRCm39)	T5040A	possibly damaging	Het
Hprt1	T	C	X: 52,109,016 (GRCm39)	Y174H	probably damaging	Het
Igsf10	T	A	3: 59,239,157 (GRCm39)	L341F	possibly damaging	Het
Ints1	A	G	5: 139,743,668 (GRCm39)	S1592P	possibly damaging	Het
Itgam	T	C	7: 127,711,578 (GRCm39)	I641T	probably damaging	Het
Macf1	T	A	4: 123,369,704 (GRCm39)	I121F	probably damaging	Het
Mapk3	T	A	7: 126,359,978 (GRCm39)	C19*	probably null	Het
Mapk4	C	T	18: 74,068,236 (GRCm39)	A232T	probably benign	Het
Med26	T	G	8: 73,249,956 (GRCm39)	K381T	possibly damaging	Het
Mki67	T	C	7: 135,302,415 (GRCm39)	E873G	possibly damaging	Het
Mrgpra9	T	C	7: 46,884,828 (GRCm39)	I280V	probably benign	Het
Mroh9	T	C	1: 162,871,572 (GRCm39)	Y637C	probably damaging	Het
Nktr	T	C	9: 121,578,670 (GRCm39)		probably benign	Het
Or4c11	A	T	2: 88,695,458 (GRCm39)	N170Y	probably benign	Het
Or5j3	A	G	2: 86,128,733 (GRCm39)	D191G	probably damaging	Het
Pam	A	C	1: 97,850,854 (GRCm39)	L168R	probably damaging	Het
Pikfyve	G	A	1: 65,292,676 (GRCm39)	V1376M	probably damaging	Het
Pomt2	A	T	12: 87,175,743 (GRCm39)	N400K	probably damaging	Het
Pramel13	T	C	4: 144,119,304 (GRCm39)	E421G	probably damaging	Het
Rbm45	C	T	2: 76,205,798 (GRCm39)	P217S	probably benign	Het
Rc3h2	A	G	2: 37,268,971 (GRCm39)	S832P	possibly damaging	Het
Ric3	A	G	7: 108,653,660 (GRCm39)	F144L	possibly damaging	Het
Rrh	G	T	3: 129,609,258 (GRCm39)	A83E	probably damaging	Het
Rspo2	T	A	15: 42,941,510 (GRCm39)	T138S	probably benign	Het
Skint5	A	G	4: 113,381,289 (GRCm39)		probably benign	Het
Snx29	C	T	16: 11,265,317 (GRCm39)	R516W	probably damaging	Het
Spc25	T	C	2: 69,030,331 (GRCm39)	H104R	probably benign	Het
Sptssa	A	T	12: 54,703,267 (GRCm39)	M1K	probably null	Het
Srrm2	G	T	17: 24,034,658 (GRCm39)		probably benign	Het
Tcof1	T	C	18: 60,949,156 (GRCm39)	D1253G	possibly damaging	Het
Tmem181c-ps	A	G	17: 6,888,608 (GRCm39)		noncoding transcript	Het
Tmprss15	T	C	16: 78,759,078 (GRCm39)	N880S	probably benign	Het
Trio	T	A	15: 27,854,998 (GRCm39)	Q728L	probably damaging	Het
Txk	T	C	5: 72,881,794 (GRCm39)	N154S	probably damaging	Het
Vwf	T	A	6: 125,662,809 (GRCm39)	V2731E	probably benign	Het
Yes1	T	C	5: 32,797,926 (GRCm39)	S82P	probably benign	Het
Zgrf1	T	C	3: 127,392,356 (GRCm39)	V1292A	possibly damaging	Het

Other mutations in Spata31d1d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01474:Spata31d1d	APN	13	59,878,029 (GRCm39)	splice site	probably benign
IGL02399:Spata31d1d	APN	13	59,877,954 (GRCm39)	splice site	probably benign
IGL02531:Spata31d1d	APN	13	59,875,748 (GRCm39)	missense	possibly damaging	0.86
IGL02687:Spata31d1d	APN	13	59,875,678 (GRCm39)	missense	possibly damaging	0.71
IGL02815:Spata31d1d	APN	13	59,874,678 (GRCm39)	missense	possibly damaging	0.72
IGL02893:Spata31d1d	APN	13	59,873,793 (GRCm39)	missense	possibly damaging	0.72
IGL03037:Spata31d1d	APN	13	59,873,947 (GRCm39)	missense	possibly damaging	0.86
IGL02796:Spata31d1d	UTSW	13	59,876,057 (GRCm39)	missense	possibly damaging	0.93
R0612:Spata31d1d	UTSW	13	59,875,787 (GRCm39)	missense	probably benign	0.06
R1345:Spata31d1d	UTSW	13	59,873,838 (GRCm39)	missense	possibly damaging	0.72
R1572:Spata31d1d	UTSW	13	59,876,005 (GRCm39)	missense	probably benign	0.01
R1736:Spata31d1d	UTSW	13	59,874,311 (GRCm39)	missense	probably benign	0.02
R1750:Spata31d1d	UTSW	13	59,876,509 (GRCm39)	missense	probably benign	0.33
R1894:Spata31d1d	UTSW	13	59,875,936 (GRCm39)	missense	probably benign	0.09
R2202:Spata31d1d	UTSW	13	59,879,435 (GRCm39)	missense	possibly damaging	0.82
R2203:Spata31d1d	UTSW	13	59,879,435 (GRCm39)	missense	possibly damaging	0.82
R2204:Spata31d1d	UTSW	13	59,879,435 (GRCm39)	missense	possibly damaging	0.82
R3942:Spata31d1d	UTSW	13	59,875,276 (GRCm39)	missense	probably benign	0.18
R4513:Spata31d1d	UTSW	13	59,876,368 (GRCm39)	missense	probably benign	0.32
R4824:Spata31d1d	UTSW	13	59,877,055 (GRCm39)	missense	possibly damaging	0.86
R4959:Spata31d1d	UTSW	13	59,875,102 (GRCm39)	missense	probably damaging	1.00
R4970:Spata31d1d	UTSW	13	59,875,334 (GRCm39)	missense	probably benign	0.33
R5406:Spata31d1d	UTSW	13	59,876,592 (GRCm39)	missense	probably benign	0.33
R5618:Spata31d1d	UTSW	13	59,874,214 (GRCm39)	missense	probably benign	0.01
R5688:Spata31d1d	UTSW	13	59,874,322 (GRCm39)	missense	probably damaging	0.98
R5741:Spata31d1d	UTSW	13	59,876,500 (GRCm39)	missense	possibly damaging	0.86
R5867:Spata31d1d	UTSW	13	59,875,054 (GRCm39)	missense	possibly damaging	0.53
R5930:Spata31d1d	UTSW	13	59,874,829 (GRCm39)	missense	probably benign
R6263:Spata31d1d	UTSW	13	59,873,797 (GRCm39)	missense	probably benign	0.18
R6267:Spata31d1d	UTSW	13	59,876,278 (GRCm39)	missense	possibly damaging	0.93
R6296:Spata31d1d	UTSW	13	59,876,278 (GRCm39)	missense	possibly damaging	0.93
R6597:Spata31d1d	UTSW	13	59,873,871 (GRCm39)	missense	probably benign	0.01
R6985:Spata31d1d	UTSW	13	59,879,429 (GRCm39)	missense	probably benign	0.00
R7032:Spata31d1d	UTSW	13	59,876,046 (GRCm39)	missense	probably benign
R7174:Spata31d1d	UTSW	13	59,876,394 (GRCm39)	missense	possibly damaging	0.72
R7322:Spata31d1d	UTSW	13	59,874,790 (GRCm39)	missense	probably benign
R7444:Spata31d1d	UTSW	13	59,875,007 (GRCm39)	missense	probably benign	0.33
R7946:Spata31d1d	UTSW	13	59,878,606 (GRCm39)	missense	probably benign	0.02
R8206:Spata31d1d	UTSW	13	59,879,344 (GRCm39)	missense	probably benign	0.03
R8912:Spata31d1d	UTSW	13	59,875,136 (GRCm39)	missense	possibly damaging	0.53
R8995:Spata31d1d	UTSW	13	59,874,421 (GRCm39)	missense	probably benign	0.33
R9215:Spata31d1d	UTSW	13	59,875,823 (GRCm39)	missense	probably benign	0.32
R9800:Spata31d1d	UTSW	13	59,874,637 (GRCm39)	missense	possibly damaging	0.53
Z1176:Spata31d1d	UTSW	13	59,873,981 (GRCm39)	missense	probably benign	0.18

Predicted Primers

PCR Primer
(F):5'- AGGGCTGTCCTTGTTCAGAC -3'
(R):5'- ACATAGTCAAAGAGCAGCTCG -3'

Sequencing Primer
(F):5'- TGTTCAGACCCTTGCCTAAG -3'
(R):5'- GATCTCGAAAGCCAGCCAGTG -3'

Posted On

2014-12-29