Mutagenetix > Incidental Mutation

Incidental Mutation 'R7989:Spata31d1b'

651649

Institutional Source

Beutler Lab

Gene Symbol

Spata31d1b

Ensembl Gene

ENSMUSG00000091311

Gene Name

spermatogenesis associated 31 subfamily D, member 1B

Synonyms

Gm4934, Fam75d1b

MMRRC Submission

046030-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R7989 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

59860098-59867103 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 59866182 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 1110 (P1110L)

Ref Sequence

ENSEMBL: ENSMUSP00000130813 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000165133]

AlphaFold

E9QA57

Predicted Effect

possibly damaging
Transcript: ENSMUST00000165133
AA Change: P1110L

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000130813
Gene: ENSMUSG00000091311
AA Change: P1110L

Domain	Start	End	E-Value	Type
transmembrane domain	31	53	N/A	INTRINSIC
Pfam:DUF4599	65	149	3.9e-10	PFAM
low complexity region	170	188	N/A	INTRINSIC
low complexity region	206	229	N/A	INTRINSIC
low complexity region	352	360	N/A	INTRINSIC
Pfam:FAM75	402	774	1.1e-116	PFAM
low complexity region	883	895	N/A	INTRINSIC
low complexity region	983	1001	N/A	INTRINSIC
low complexity region	1152	1162	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	T	A	12: 118,875,278 (GRCm39)	E631D	probably benign	Het
Abcc12	T	C	8: 87,232,108 (GRCm39)	T1317A	probably benign	Het
Abcc4	T	C	14: 118,836,772 (GRCm39)	Q663R	probably benign	Het
Arhgef28	G	A	13: 98,036,243 (GRCm39)	T1672I	probably benign	Het
Dnah3	A	T	7: 119,677,012 (GRCm39)	D496E	probably benign	Het
Dse	A	T	10: 34,029,454 (GRCm39)	Y545*	probably null	Het
Eps8	C	T	6: 137,505,569 (GRCm39)	R53Q	possibly damaging	Het
Fam124b	A	T	1: 80,191,311 (GRCm39)	L24Q	probably damaging	Het
Fam180a	A	T	6: 35,292,273 (GRCm39)	N44K	probably damaging	Het
Gabrg3	G	T	7: 56,374,389 (GRCm39)	N392K	possibly damaging	Het
Gprin2	G	A	14: 33,916,661 (GRCm39)	R370*	probably null	Het
Grhpr	C	T	4: 44,989,008 (GRCm39)	P275S	probably damaging	Het
Hsf5	A	G	11: 87,526,450 (GRCm39)	Q374R	probably benign	Het
Igtp	A	C	11: 58,097,205 (GRCm39)	K125N	probably damaging	Het
Il17a	T	C	1: 20,802,438 (GRCm39)	V49A	possibly damaging	Het
Klhl12	T	C	1: 134,417,143 (GRCm39)	S552P	probably benign	Het
Or4c15	T	C	2: 88,759,858 (GRCm39)	D267G	probably damaging	Het
Or5d45	T	A	2: 88,153,164 (GRCm39)	N295I	probably damaging	Het
Pkd2l1	A	T	19: 44,142,507 (GRCm39)	C512S	probably benign	Het
Plekha7	G	A	7: 115,757,558 (GRCm39)	P464L	probably benign	Het
Plk5	A	G	10: 80,199,899 (GRCm39)	R469G	probably benign	Het
Pphln1	C	A	15: 93,386,960 (GRCm39)	H353N	possibly damaging	Het
Prkaa1	A	G	15: 5,206,166 (GRCm39)	N341D	probably damaging	Het
Skp2	C	T	15: 9,127,979 (GRCm39)	R129H	probably benign	Het
Slc5a6	A	G	5: 31,199,480 (GRCm39)		probably null	Het
Speer4a2	A	T	5: 26,290,643 (GRCm39)	L176Q	probably damaging	Het
Srgap2	A	G	1: 131,226,170 (GRCm39)	S368P		Het
Tiam2	G	T	17: 3,568,524 (GRCm39)	E1557*	probably null	Het
Tmem200a	C	A	10: 25,869,955 (GRCm39)	V105F	probably benign	Het
Trbv3	A	T	6: 41,025,576 (GRCm39)	K55N	probably benign	Het
Trio	A	G	15: 27,773,021 (GRCm39)	L1881P	probably damaging	Het
Unc13a	G	A	8: 72,104,917 (GRCm39)	R782W	probably damaging	Het
Usp32	A	T	11: 84,925,126 (GRCm39)	M117K		Het
Zfp655	T	A	5: 145,181,380 (GRCm39)	C413S	probably damaging	Het

Other mutations in Spata31d1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01525:Spata31d1b	APN	13	59,860,280 (GRCm39)	missense	probably benign	0.06
IGL02317:Spata31d1b	APN	13	59,865,854 (GRCm39)	missense	probably damaging	0.99
IGL02885:Spata31d1b	APN	13	59,866,941 (GRCm39)	utr 3 prime	probably benign
R0017:Spata31d1b	UTSW	13	59,863,883 (GRCm39)	missense	probably benign
R0071:Spata31d1b	UTSW	13	59,863,163 (GRCm39)	missense	probably benign	0.26
R0071:Spata31d1b	UTSW	13	59,863,163 (GRCm39)	missense	probably benign	0.26
R0595:Spata31d1b	UTSW	13	59,864,091 (GRCm39)	missense	probably benign	0.09
R0961:Spata31d1b	UTSW	13	59,865,618 (GRCm39)	missense	possibly damaging	0.91
R1054:Spata31d1b	UTSW	13	59,865,332 (GRCm39)	missense	probably damaging	0.96
R1124:Spata31d1b	UTSW	13	59,864,468 (GRCm39)	missense	probably benign
R1338:Spata31d1b	UTSW	13	59,865,975 (GRCm39)	frame shift	probably null
R1539:Spata31d1b	UTSW	13	59,863,733 (GRCm39)	missense	possibly damaging	0.46
R1662:Spata31d1b	UTSW	13	59,864,442 (GRCm39)	missense	probably benign	0.00
R1688:Spata31d1b	UTSW	13	59,863,274 (GRCm39)	missense	possibly damaging	0.61
R1776:Spata31d1b	UTSW	13	59,864,381 (GRCm39)	missense	probably benign
R1793:Spata31d1b	UTSW	13	59,863,779 (GRCm39)	missense	probably benign
R1838:Spata31d1b	UTSW	13	59,865,279 (GRCm39)	missense	probably benign	0.00
R1838:Spata31d1b	UTSW	13	59,863,671 (GRCm39)	missense	probably benign
R1861:Spata31d1b	UTSW	13	59,865,150 (GRCm39)	missense	possibly damaging	0.64
R1903:Spata31d1b	UTSW	13	59,865,882 (GRCm39)	missense	probably damaging	0.99
R1940:Spata31d1b	UTSW	13	59,865,835 (GRCm39)	missense	possibly damaging	0.91
R1994:Spata31d1b	UTSW	13	59,864,194 (GRCm39)	missense	probably benign
R1995:Spata31d1b	UTSW	13	59,864,194 (GRCm39)	missense	probably benign
R2407:Spata31d1b	UTSW	13	59,864,660 (GRCm39)	missense	possibly damaging	0.64
R3692:Spata31d1b	UTSW	13	59,865,705 (GRCm39)	missense	probably benign	0.03
R4576:Spata31d1b	UTSW	13	59,864,675 (GRCm39)	missense	probably damaging	0.98
R4734:Spata31d1b	UTSW	13	59,866,172 (GRCm39)	missense	probably damaging	1.00
R4742:Spata31d1b	UTSW	13	59,864,426 (GRCm39)	missense	probably damaging	0.98
R4749:Spata31d1b	UTSW	13	59,866,172 (GRCm39)	missense	probably damaging	1.00
R4806:Spata31d1b	UTSW	13	59,863,535 (GRCm39)	missense	probably benign	0.32
R4808:Spata31d1b	UTSW	13	59,863,535 (GRCm39)	missense	probably benign	0.32
R4844:Spata31d1b	UTSW	13	59,866,169 (GRCm39)	missense	possibly damaging	0.85
R4942:Spata31d1b	UTSW	13	59,864,917 (GRCm39)	missense	possibly damaging	0.70
R4953:Spata31d1b	UTSW	13	59,864,097 (GRCm39)	missense	probably damaging	0.96
R5093:Spata31d1b	UTSW	13	59,863,838 (GRCm39)	missense	possibly damaging	0.84
R5169:Spata31d1b	UTSW	13	59,864,309 (GRCm39)	missense	probably damaging	1.00
R5384:Spata31d1b	UTSW	13	59,866,032 (GRCm39)	missense	possibly damaging	0.68
R5386:Spata31d1b	UTSW	13	59,866,866 (GRCm39)	missense	possibly damaging	0.95
R5502:Spata31d1b	UTSW	13	59,864,486 (GRCm39)	missense	probably damaging	1.00
R5751:Spata31d1b	UTSW	13	59,866,787 (GRCm39)	missense	probably benign	0.03
R6054:Spata31d1b	UTSW	13	59,863,464 (GRCm39)	missense	probably benign
R6433:Spata31d1b	UTSW	13	59,864,999 (GRCm39)	missense	probably damaging	0.99
R6571:Spata31d1b	UTSW	13	59,865,269 (GRCm39)	missense	probably benign
R6980:Spata31d1b	UTSW	13	59,863,236 (GRCm39)	missense	probably benign	0.26
R7047:Spata31d1b	UTSW	13	59,860,249 (GRCm39)	missense	probably damaging	1.00
R7064:Spata31d1b	UTSW	13	59,863,955 (GRCm39)	missense	probably benign
R7147:Spata31d1b	UTSW	13	59,866,028 (GRCm39)	missense	probably benign	0.28
R7273:Spata31d1b	UTSW	13	59,865,446 (GRCm39)	missense	probably benign
R7359:Spata31d1b	UTSW	13	59,860,304 (GRCm39)	missense	probably damaging	1.00
R7457:Spata31d1b	UTSW	13	59,864,723 (GRCm39)	missense	probably damaging	0.99
R7469:Spata31d1b	UTSW	13	59,863,278 (GRCm39)	missense	probably benign	0.04
R7519:Spata31d1b	UTSW	13	59,864,726 (GRCm39)	missense	probably benign	0.43
R7548:Spata31d1b	UTSW	13	59,864,468 (GRCm39)	missense	probably benign
R7586:Spata31d1b	UTSW	13	59,866,194 (GRCm39)	missense	probably damaging	1.00
R7657:Spata31d1b	UTSW	13	59,863,577 (GRCm39)	missense	possibly damaging	0.46
R7778:Spata31d1b	UTSW	13	59,865,047 (GRCm39)	missense	possibly damaging	0.65
R7824:Spata31d1b	UTSW	13	59,865,047 (GRCm39)	missense	possibly damaging	0.65
R8078:Spata31d1b	UTSW	13	59,863,263 (GRCm39)	missense	probably damaging	0.99
R8176:Spata31d1b	UTSW	13	59,865,117 (GRCm39)	missense	probably benign
R8530:Spata31d1b	UTSW	13	59,864,964 (GRCm39)	missense	unknown
R8776:Spata31d1b	UTSW	13	59,863,283 (GRCm39)	missense	probably benign	0.00
R8776-TAIL:Spata31d1b	UTSW	13	59,863,283 (GRCm39)	missense	probably benign	0.00
R9385:Spata31d1b	UTSW	13	59,863,403 (GRCm39)	missense	probably damaging	0.99
R9476:Spata31d1b	UTSW	13	59,863,467 (GRCm39)	missense	probably benign	0.08
R9522:Spata31d1b	UTSW	13	59,864,780 (GRCm39)	missense	probably benign	0.00
R9786:Spata31d1b	UTSW	13	59,866,155 (GRCm39)	missense	possibly damaging	0.56
R9789:Spata31d1b	UTSW	13	59,860,196 (GRCm39)	missense	probably benign	0.03
Z1177:Spata31d1b	UTSW	13	59,866,674 (GRCm39)	missense	probably benign	0.17
Z1177:Spata31d1b	UTSW	13	59,863,265 (GRCm39)	missense	probably benign	0.44
Z1177:Spata31d1b	UTSW	13	59,860,223 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGGGAATGTCATTTCTCCACAAC -3'
(R):5'- CCTGAACACAGTGTCCCTTC -3'

Sequencing Primer
(F):5'- TCTGAGAGCCCTGACTCTAAAAG -3'
(R):5'- AACACAGTGTCCCTTCCCTGTG -3'

Posted On

2020-09-15