Mutagenetix > Incidental Mutation

Incidental Mutation 'R7816:Spryd3'

601566

Institutional Source

Beutler Lab

Gene Symbol

Spryd3

Ensembl Gene

ENSMUSG00000036966

Gene Name

SPRY domain containing 3

Synonyms

MMRRC Submission

045870-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7816 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

102024963-102044669 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 102026141 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Cysteine at position 401 (F401C)

Ref Sequence

ENSEMBL: ENSMUSP00000121493 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046144] [ENSMUST00000154032] [ENSMUST00000169627] [ENSMUST00000228958] [ENSMUST00000230474]

AlphaFold

E9Q9B3

Predicted Effect

probably benign
Transcript: ENSMUST00000046144

SMART Domains

Protein: ENSMUSP00000041087
Gene: ENSMUSG00000037003

Domain	Start	End	E-Value	Type
C1	32	79	2.78e-9	SMART
SCOP:d1d5ra2	128	295	8e-24	SMART
PTEN_C2	297	424	6.63e-40	SMART
low complexity region	494	513	N/A	INTRINSIC
SH2	1136	1236	1.69e-16	SMART
PTB	1269	1407	6.66e-28	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000154032
AA Change: F401C

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000121493
Gene: ENSMUSG00000036966
AA Change: F401C

Domain	Start	End	E-Value	Type
low complexity region	28	38	N/A	INTRINSIC
SPRY	76	201	1.66e-11	SMART
SPRY	256	441	3.28e-15	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000169627

SMART Domains

Protein: ENSMUSP00000129146
Gene: ENSMUSG00000037003

Domain	Start	End	E-Value	Type
C1	32	79	2.78e-9	SMART
SCOP:d1d5ra2	128	295	8e-24	SMART
PTEN_C2	297	424	6.63e-40	SMART
low complexity region	494	513	N/A	INTRINSIC
SH2	1129	1229	1.69e-16	SMART
PTB	1262	1400	6.66e-28	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000228958

Predicted Effect

probably benign
Transcript: ENSMUST00000230474

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	G	1: 71,331,588 (GRCm39)	S1321P	probably benign	Het
Abcb1a	T	C	5: 8,736,132 (GRCm39)	V175A	possibly damaging	Het
Adamts20	T	A	15: 94,220,725 (GRCm39)	M1403L	probably benign	Het
Akap13	G	A	7: 75,380,213 (GRCm39)	R462H	probably damaging	Het
Amotl2	T	A	9: 102,608,853 (GRCm39)	I789K	probably benign	Het
BC005537	C	T	13: 24,987,382 (GRCm39)	R7W	possibly damaging	Het
Bcar3	C	T	3: 122,220,343 (GRCm39)	T80I	probably benign	Het
Bcas1	G	T	2: 170,248,347 (GRCm39)	F181L	probably benign	Het
Cacnb1	T	C	11: 97,896,115 (GRCm39)	E389G	probably damaging	Het
Cd52	A	T	4: 133,821,199 (GRCm39)		probably benign	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 105,036,102 (GRCm39)		probably benign	Het
Coro2a	T	C	4: 46,546,809 (GRCm39)	D182G	probably benign	Het
Crp	T	C	1: 172,526,277 (GRCm39)	S121P	possibly damaging	Het
Csnka2ip	T	C	16: 64,299,852 (GRCm39)		probably benign	Het
Cttnbp2	T	C	6: 18,448,413 (GRCm39)	D82G	probably damaging	Het
Cyp2b9	A	G	7: 25,900,517 (GRCm39)	N385S	probably benign	Het
Dppa1	A	G	11: 46,507,003 (GRCm39)	S26P	possibly damaging	Het
Eif4e3	T	C	6: 99,617,599 (GRCm39)	R91G	probably damaging	Het
F13a1	A	T	13: 37,209,745 (GRCm39)	N73K	probably benign	Het
Fbxl13	T	C	5: 21,748,785 (GRCm39)	Y378C	probably benign	Het
Glis2	G	A	16: 4,431,328 (GRCm39)	R285H	probably damaging	Het
Gm17174	T	A	14: 51,829,569 (GRCm39)		probably benign	Het
Golga1	G	A	2: 38,942,110 (GRCm39)	S102F	probably damaging	Het
Hdac1	A	T	4: 129,411,888 (GRCm39)	Y336N	probably damaging	Het
Hfe	G	T	13: 23,888,382 (GRCm39)	T168K	possibly damaging	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Ighv1-56	T	C	12: 115,206,846 (GRCm39)	S4G	probably benign	Het
Ino80d	A	G	1: 63,125,556 (GRCm39)	Y74H	probably damaging	Het
Ints1	A	T	5: 139,757,134 (GRCm39)	H427Q	possibly damaging	Het
Itpkb	T	A	1: 180,241,454 (GRCm39)	V708E	probably damaging	Het
Jmjd4	G	T	11: 59,341,162 (GRCm39)	G31V	probably benign	Het
Kcnh5	C	T	12: 75,023,457 (GRCm39)	C537Y	probably damaging	Het
Kcnj11	A	T	7: 45,749,281 (GRCm39)	L14Q	probably damaging	Het
Lipo4	A	T	19: 33,491,642 (GRCm39)	W114R	probably damaging	Het
Lrrc9	T	A	12: 72,542,466 (GRCm39)	I1096N	probably damaging	Het
Lyzl6	C	T	11: 103,527,680 (GRCm39)	V15I	probably benign	Het
Map4k4	A	G	1: 40,053,368 (GRCm39)	T856A	possibly damaging	Het
Mks1	T	A	11: 87,751,542 (GRCm39)	W346R	probably damaging	Het
Mtmr14	T	C	6: 113,243,263 (GRCm39)	Y32H	probably damaging	Het
Muc13	A	G	16: 33,619,386 (GRCm39)	S45G	unknown	Het
Mx2	G	A	16: 97,346,812 (GRCm39)	G93D	probably damaging	Het
Noc4l	A	T	5: 110,797,539 (GRCm39)	V365E	probably benign	Het
Odf2l	T	C	3: 144,856,776 (GRCm39)	I577T	probably damaging	Het
Or4l1	T	C	14: 50,166,622 (GRCm39)	I126M	probably damaging	Het
Peg10	C	CTCT	6: 4,756,453 (GRCm39)		probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Pnoc	A	T	14: 65,639,307 (GRCm39)	I186N	possibly damaging	Het
Pou4f3	A	G	18: 42,528,251 (GRCm39)	I65V	probably benign	Het
Pramel23	G	T	4: 143,424,764 (GRCm39)	N226K	probably benign	Het
Prss1l	T	C	6: 41,371,707 (GRCm39)	L51P	probably damaging	Het
Ptpn21	G	A	12: 98,648,791 (GRCm39)	A955V	probably damaging	Het
Rabgap1	G	T	2: 37,453,476 (GRCm39)	R968L	probably benign	Het
Rarres1	T	C	3: 67,386,677 (GRCm39)	N282S	probably damaging	Het
Rgs17	T	C	10: 5,791,501 (GRCm39)	N72S	probably benign	Het
Rp1	T	A	1: 4,417,926 (GRCm39)	N1062I	probably damaging	Het
Rpn1	T	A	6: 88,080,378 (GRCm39)	V559D	possibly damaging	Het
Rrbp1	A	T	2: 143,830,855 (GRCm39)	N437K	probably damaging	Het
Rtn4r	C	A	16: 17,969,399 (GRCm39)	Q276K	probably benign	Het
Rwdd4a	T	C	8: 47,990,335 (GRCm39)	S16P	probably damaging	Het
S1pr1	A	G	3: 115,505,947 (GRCm39)	S216P	possibly damaging	Het
Scn8a	C	A	15: 100,908,917 (GRCm39)	T795K	possibly damaging	Het
Stk36	G	T	1: 74,650,328 (GRCm39)	E287*	probably null	Het
Tbc1d1	G	T	5: 64,507,095 (GRCm39)	S1104I	probably damaging	Het
Tex15	A	G	8: 34,071,683 (GRCm39)	D2410G	probably benign	Het
Tmem92	T	A	11: 94,669,784 (GRCm39)	I116F	possibly damaging	Het
Trp53bp2	A	G	1: 182,276,260 (GRCm39)	E747G	probably damaging	Het
Trp63	A	T	16: 25,707,990 (GRCm39)	D562V	probably damaging	Het
Ttc21b	A	G	2: 66,077,705 (GRCm39)	Y167H	possibly damaging	Het
Ubr5	G	A	15: 37,980,076 (GRCm39)	A2434V	probably null	Het
Uggt1	G	A	1: 36,202,396 (GRCm39)	S1067F	possibly damaging	Het
Vmn2r103	T	A	17: 20,014,476 (GRCm39)	Y423N	probably benign	Het
Vmn2r111	A	G	17: 22,792,083 (GRCm39)	Y58H	probably damaging	Het
Ypel3	T	A	7: 126,377,013 (GRCm39)	V2E	probably damaging	Het
Ythdf3	T	C	3: 16,243,681 (GRCm39)	V34A	probably damaging	Het
Zfp180	A	T	7: 23,804,570 (GRCm39)	S330C	probably damaging	Het
Zfp292	G	A	4: 34,809,865 (GRCm39)	P1060S	probably benign	Het
Zfp354c	TCACACTCGGCACA	TCACA	11: 50,706,067 (GRCm39)		probably benign	Het
Zfp981	C	T	4: 146,622,100 (GRCm39)	R342C	probably benign	Het

Other mutations in Spryd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01638:Spryd3	APN	15	102,038,711 (GRCm39)	critical splice donor site	probably null
IGL02138:Spryd3	APN	15	102,027,354 (GRCm39)	unclassified	probably benign
IGL02652:Spryd3	APN	15	102,027,425 (GRCm39)	splice site	probably null
IGL02716:Spryd3	APN	15	102,041,896 (GRCm39)	missense	possibly damaging	0.91
IGL02949:Spryd3	APN	15	102,026,544 (GRCm39)	missense	probably benign	0.03
B6819:Spryd3	UTSW	15	102,026,576 (GRCm39)	missense	probably benign	0.01
BB001:Spryd3	UTSW	15	102,026,762 (GRCm39)	missense	probably benign	0.18
BB011:Spryd3	UTSW	15	102,026,762 (GRCm39)	missense	probably benign	0.18
K7894:Spryd3	UTSW	15	102,026,576 (GRCm39)	missense	probably benign	0.01
R0111:Spryd3	UTSW	15	102,036,972 (GRCm39)	critical splice donor site	probably null
R0479:Spryd3	UTSW	15	102,038,835 (GRCm39)	nonsense	probably null
R0654:Spryd3	UTSW	15	102,036,969 (GRCm39)	splice site	probably null
R1014:Spryd3	UTSW	15	102,041,966 (GRCm39)	missense	probably damaging	0.98
R1448:Spryd3	UTSW	15	102,026,827 (GRCm39)	missense	possibly damaging	0.93
R1510:Spryd3	UTSW	15	102,027,396 (GRCm39)	missense	probably damaging	0.99
R1863:Spryd3	UTSW	15	102,026,094 (GRCm39)	missense	probably benign	0.17
R2069:Spryd3	UTSW	15	102,026,616 (GRCm39)	missense	probably benign	0.01
R2212:Spryd3	UTSW	15	102,038,711 (GRCm39)	critical splice donor site	probably null
R4581:Spryd3	UTSW	15	102,038,799 (GRCm39)	missense	probably damaging	0.98
R4892:Spryd3	UTSW	15	102,026,537 (GRCm39)	missense	probably benign	0.02
R5068:Spryd3	UTSW	15	102,037,046 (GRCm39)	missense	probably benign	0.02
R5586:Spryd3	UTSW	15	102,040,372 (GRCm39)	missense	probably benign
R5771:Spryd3	UTSW	15	102,025,342 (GRCm39)	unclassified	probably benign
R5945:Spryd3	UTSW	15	102,026,630 (GRCm39)	missense	probably benign	0.22
R7080:Spryd3	UTSW	15	102,026,627 (GRCm39)	missense	probably benign	0.04
R7924:Spryd3	UTSW	15	102,026,762 (GRCm39)	missense	probably benign	0.18
R8524:Spryd3	UTSW	15	102,026,583 (GRCm39)	nonsense	probably null
R8713:Spryd3	UTSW	15	102,041,920 (GRCm39)	missense	possibly damaging	0.86
R9027:Spryd3	UTSW	15	102,027,843 (GRCm39)	missense	probably damaging	0.99
R9187:Spryd3	UTSW	15	102,039,110 (GRCm39)	missense	probably damaging	1.00
R9286:Spryd3	UTSW	15	102,041,869 (GRCm39)	missense	possibly damaging	0.91
R9411:Spryd3	UTSW	15	102,027,843 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GCCTGAGCTGACAGAAACTG -3'
(R):5'- TGCTTTCCACAGCACTGCAG -3'

Sequencing Primer
(F):5'- ACAGAAACTGGGGATGCCCTC -3'
(R):5'- GTGACTCCTAAAGCCCATGTTTAGG -3'

Posted On

2019-12-03