Mutagenetix > Incidental Mutation

Incidental Mutation 'R9520:Scaf8'

718854

Institutional Source

Beutler Lab

Gene Symbol

Scaf8

Ensembl Gene

ENSMUSG00000046201

Gene Name

SR-related CTD-associated factor 8

Synonyms

Rbm16, A630086M08Rik, A930036P18Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.758) question?

Stock #

R9520 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

3165247-3249134 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 3248285 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 1203 (R1203W)

Ref Sequence

ENSEMBL: ENSMUSP00000076024 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076734]

AlphaFold

Q6DID3

Predicted Effect

probably damaging
Transcript: ENSMUST00000076734
AA Change: R1203W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000076024
Gene: ENSMUSG00000046201
AA Change: R1203W

Domain	Start	End	E-Value	Type
RPR	6	136	1.26e-42	SMART
low complexity region	157	171	N/A	INTRINSIC
low complexity region	193	223	N/A	INTRINSIC
low complexity region	232	251	N/A	INTRINSIC
low complexity region	271	282	N/A	INTRINSIC
low complexity region	305	326	N/A	INTRINSIC
low complexity region	363	380	N/A	INTRINSIC
low complexity region	397	462	N/A	INTRINSIC
RRM	478	547	9.2e-14	SMART
low complexity region	644	677	N/A	INTRINSIC
low complexity region	685	712	N/A	INTRINSIC
low complexity region	857	883	N/A	INTRINSIC
low complexity region	941	953	N/A	INTRINSIC
low complexity region	962	971	N/A	INTRINSIC
low complexity region	1027	1044	N/A	INTRINSIC
internal_repeat_1	1048	1064	2e-5	PROSPERO
internal_repeat_1	1059	1075	2e-5	PROSPERO
low complexity region	1146	1168	N/A	INTRINSIC
low complexity region	1249	1268	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	T	C	5: 124,228,176 (GRCm39)	T22A	possibly damaging	Het
Ackr3	T	A	1: 90,141,971 (GRCm39)	Y143*	probably null	Het
Actn1	A	T	12: 80,240,417 (GRCm39)	D223E	probably damaging	Het
Apcdd1	C	T	18: 63,083,190 (GRCm39)	T340I	possibly damaging	Het
B4galnt1	G	A	10: 127,006,580 (GRCm39)	E375K	probably damaging	Het
Cacna1b	A	T	2: 24,651,799 (GRCm39)	S127T	probably damaging	Het
Cbr3	A	G	16: 93,487,318 (GRCm39)	D167G	probably benign	Het
Cdcp1	A	T	9: 123,012,736 (GRCm39)	N270K	possibly damaging	Het
Cep131	A	G	11: 119,968,157 (GRCm39)	V128A	probably benign	Het
Cfhr4	A	G	1: 139,682,135 (GRCm39)	S154P	probably damaging	Het
Chek1	T	C	9: 36,625,121 (GRCm39)	E320G	probably benign	Het
Cit	T	A	5: 116,079,954 (GRCm39)	L755*	probably null	Het
Clstn2	A	T	9: 97,414,763 (GRCm39)	L377Q	probably damaging	Het
Cpne9	A	T	6: 113,281,413 (GRCm39)	D498V	probably damaging	Het
Csad	A	G	15: 102,097,102 (GRCm39)	M1T	probably null	Het
Csmd3	A	G	15: 47,561,608 (GRCm39)	F1323L		Het
Dennd2c	A	T	3: 103,044,484 (GRCm39)	Q355L	probably benign	Het
Fbxw10	G	A	11: 62,750,842 (GRCm39)	S475N	possibly damaging	Het
Foxi3	A	G	6: 70,937,676 (GRCm39)	S303G	probably damaging	Het
Glra1	G	C	11: 55,405,897 (GRCm39)	F372L	probably benign	Het
Gm19410	A	G	8: 36,262,637 (GRCm39)	E858G	probably benign	Het
Gm7168	T	A	17: 14,169,506 (GRCm39)	V291D	probably benign	Het
Gpr15lg	T	A	14: 36,829,343 (GRCm39)	T47S	possibly damaging	Het
Grin2b	T	C	6: 135,710,399 (GRCm39)	Y1049C	probably damaging	Het
Grm2	A	G	9: 106,525,230 (GRCm39)	L24P		Het
Guca1a	T	A	17: 47,711,335 (GRCm39)	I4F	probably benign	Het
H6pd	T	C	4: 150,080,375 (GRCm39)	I157V	possibly damaging	Het
Hectd3	T	A	4: 116,857,882 (GRCm39)	M605K	probably damaging	Het
Hsf2	T	A	10: 57,371,996 (GRCm39)	N32K	probably damaging	Het
Hspa1l	T	A	17: 35,196,972 (GRCm39)	V337D	probably damaging	Het
Iigp1	A	T	18: 60,523,451 (GRCm39)	T190S	probably benign	Het
Iqgap1	T	C	7: 80,393,869 (GRCm39)	R622G	probably benign	Het
Lce1a1	A	T	3: 92,554,109 (GRCm39)	C122S	unknown	Het
Lrfn4	C	T	19: 4,664,237 (GRCm39)	R99H	probably damaging	Het
Lsm1	T	A	8: 26,283,744 (GRCm39)	V52E	possibly damaging	Het
Malrd1	G	A	2: 16,079,631 (GRCm39)	V1783I	unknown	Het
Mast4	T	C	13: 102,925,532 (GRCm39)	K464R	probably damaging	Het
Mpdz	T	C	4: 81,304,555 (GRCm39)	D115G	probably benign	Het
Mtmr3	A	T	11: 4,441,131 (GRCm39)	H507Q	probably damaging	Het
Mycbp2	T	A	14: 103,497,705 (GRCm39)	M956L	probably benign	Het
Myo3b	A	G	2: 70,062,753 (GRCm39)	T346A	possibly damaging	Het
Ndrg2	T	C	14: 52,146,381 (GRCm39)	I140V	probably benign	Het
Nsf	A	G	11: 103,804,709 (GRCm39)	L144P	probably damaging	Het
Or2a25	T	C	6: 42,889,051 (GRCm39)	V198A	probably damaging	Het
Or8d2b	C	T	9: 38,789,039 (GRCm39)	T189I	probably benign	Het
Pck1	G	A	2: 172,997,854 (GRCm39)	V308M	probably damaging	Het
Phip	C	T	9: 82,753,437 (GRCm39)	R1769K	possibly damaging	Het
Plekhg1	T	A	10: 3,906,822 (GRCm39)	C635S		Het
Ppp4r4	A	G	12: 103,500,378 (GRCm39)	I58V	probably benign	Het
Prkacb	T	C	3: 146,456,289 (GRCm39)	Y170C	probably damaging	Het
Rnf145	A	T	11: 44,452,336 (GRCm39)	E438D	possibly damaging	Het
Rnf207	T	C	4: 152,396,234 (GRCm39)	Y510C	probably damaging	Het
Rph3a	C	T	5: 121,101,903 (GRCm39)	C111Y	probably damaging	Het
Sec23a	T	G	12: 59,031,974 (GRCm39)	I448L	probably benign	Het
Slc22a27	T	C	19: 7,843,227 (GRCm39)	Y492C	possibly damaging	Het
Supv3l1	T	C	10: 62,268,181 (GRCm39)	K555E	probably damaging	Het
Tdrd3	T	C	14: 87,724,696 (GRCm39)	S372P	probably damaging	Het
Tgm1	A	G	14: 55,942,296 (GRCm39)	F685S	probably damaging	Het
Usp48	G	A	4: 137,340,996 (GRCm39)	G332E	probably benign	Het
Vmn2r11	T	C	5: 109,201,455 (GRCm39)	T350A	probably benign	Het
Vmn2r25	A	T	6: 123,830,066 (GRCm39)	Y28*	probably null	Het
Vmn2r85	T	A	10: 130,254,993 (GRCm39)	I564L	probably benign	Het
Wdr26	G	T	1: 181,036,587 (GRCm39)	T183K	probably benign	Het
Yjefn3	A	T	8: 70,341,969 (GRCm39)	Y97N	probably damaging	Het
Zbtb38	A	T	9: 96,568,104 (GRCm39)	D993E	probably damaging	Het
Zbtb45	T	C	7: 12,742,012 (GRCm39)	Q82R	probably damaging	Het
Zdhhc8	A	G	16: 18,045,044 (GRCm39)	V254A	probably benign	Het
Zfp648	A	G	1: 154,081,221 (GRCm39)	D460G	probably benign	Het
Zfp760	T	G	17: 21,941,036 (GRCm39)	N70K	probably benign	Het

Other mutations in Scaf8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00496:Scaf8	APN	17	3,221,409 (GRCm39)	missense	unknown
IGL00956:Scaf8	APN	17	3,221,422 (GRCm39)	missense	unknown
IGL01610:Scaf8	APN	17	3,246,124 (GRCm39)	missense	probably damaging	1.00
IGL01967:Scaf8	APN	17	3,247,213 (GRCm39)	missense	possibly damaging	0.91
IGL02005:Scaf8	APN	17	3,236,145 (GRCm39)	missense	probably damaging	1.00
IGL03037:Scaf8	APN	17	3,240,496 (GRCm39)	missense	probably damaging	0.99
BB004:Scaf8	UTSW	17	3,209,495 (GRCm39)	missense	unknown
BB014:Scaf8	UTSW	17	3,209,495 (GRCm39)	missense	unknown
R0320:Scaf8	UTSW	17	3,228,530 (GRCm39)	missense	unknown
R0789:Scaf8	UTSW	17	3,247,112 (GRCm39)	missense	possibly damaging	0.94
R0850:Scaf8	UTSW	17	3,246,049 (GRCm39)	splice site	probably null
R0919:Scaf8	UTSW	17	3,247,395 (GRCm39)	missense	probably damaging	1.00
R1488:Scaf8	UTSW	17	3,247,872 (GRCm39)	missense	probably damaging	0.97
R1544:Scaf8	UTSW	17	3,195,429 (GRCm39)	missense	probably damaging	0.96
R1928:Scaf8	UTSW	17	3,218,352 (GRCm39)	missense	unknown
R1972:Scaf8	UTSW	17	3,219,646 (GRCm39)	missense	unknown
R2156:Scaf8	UTSW	17	3,214,407 (GRCm39)	splice site	probably null
R2164:Scaf8	UTSW	17	3,247,485 (GRCm39)	missense	probably damaging	1.00
R2680:Scaf8	UTSW	17	3,247,866 (GRCm39)	missense	possibly damaging	0.95
R3794:Scaf8	UTSW	17	3,240,524 (GRCm39)	missense	probably damaging	1.00
R4368:Scaf8	UTSW	17	3,221,470 (GRCm39)	missense	unknown
R4673:Scaf8	UTSW	17	3,248,260 (GRCm39)	missense	probably benign	0.04
R4694:Scaf8	UTSW	17	3,247,679 (GRCm39)	missense	probably damaging	1.00
R4716:Scaf8	UTSW	17	3,227,398 (GRCm39)	missense	unknown
R4852:Scaf8	UTSW	17	3,228,494 (GRCm39)	missense	unknown
R5036:Scaf8	UTSW	17	3,214,537 (GRCm39)	unclassified	probably benign
R5193:Scaf8	UTSW	17	3,240,440 (GRCm39)	missense	probably benign	0.02
R5429:Scaf8	UTSW	17	3,247,385 (GRCm39)	missense	probably benign	0.14
R5816:Scaf8	UTSW	17	3,227,988 (GRCm39)	missense	unknown
R6050:Scaf8	UTSW	17	3,218,383 (GRCm39)	missense	unknown
R6493:Scaf8	UTSW	17	3,221,394 (GRCm39)	missense	unknown
R6616:Scaf8	UTSW	17	3,218,330 (GRCm39)	missense	unknown
R7065:Scaf8	UTSW	17	3,209,486 (GRCm39)	missense	probably damaging	1.00
R7112:Scaf8	UTSW	17	3,213,304 (GRCm39)	missense	unknown
R7141:Scaf8	UTSW	17	3,209,457 (GRCm39)	missense	unknown
R7198:Scaf8	UTSW	17	3,213,373 (GRCm39)	missense	unknown
R7265:Scaf8	UTSW	17	3,227,900 (GRCm39)	missense	unknown
R7592:Scaf8	UTSW	17	3,221,497 (GRCm39)	critical splice donor site	probably null
R7711:Scaf8	UTSW	17	3,237,909 (GRCm39)	missense	probably damaging	0.97
R7813:Scaf8	UTSW	17	3,247,549 (GRCm39)	missense	probably damaging	1.00
R7867:Scaf8	UTSW	17	3,227,994 (GRCm39)	missense	unknown
R7927:Scaf8	UTSW	17	3,209,495 (GRCm39)	missense	unknown
R7937:Scaf8	UTSW	17	3,247,482 (GRCm39)	missense	probably damaging	0.99
R7958:Scaf8	UTSW	17	3,221,397 (GRCm39)	missense	unknown
R7960:Scaf8	UTSW	17	3,221,397 (GRCm39)	missense	unknown
R8024:Scaf8	UTSW	17	3,209,568 (GRCm39)	missense	unknown
R8118:Scaf8	UTSW	17	3,214,458 (GRCm39)	missense	unknown
R8285:Scaf8	UTSW	17	3,227,404 (GRCm39)	missense	unknown
R8303:Scaf8	UTSW	17	3,198,827 (GRCm39)	missense	unknown
R8365:Scaf8	UTSW	17	3,246,241 (GRCm39)	missense	possibly damaging	0.67
R8544:Scaf8	UTSW	17	3,213,295 (GRCm39)	unclassified	probably benign
R8768:Scaf8	UTSW	17	3,243,349 (GRCm39)	missense	probably benign	0.27
R9521:Scaf8	UTSW	17	3,248,285 (GRCm39)	missense	probably damaging	1.00
R9603:Scaf8	UTSW	17	3,246,070 (GRCm39)	missense	possibly damaging	0.80
R9622:Scaf8	UTSW	17	3,248,170 (GRCm39)	missense	probably benign	0.21
R9687:Scaf8	UTSW	17	3,221,410 (GRCm39)	missense	unknown
Z1088:Scaf8	UTSW	17	3,213,258 (GRCm39)	unclassified	probably benign
Z1177:Scaf8	UTSW	17	3,213,269 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TTTGATGACCGCAGAAGACC -3'
(R):5'- GGTGCAGTCAGCCATTAACC -3'

Sequencing Primer
(F):5'- ACCGCAGAAGACCCTGGG -3'
(R):5'- ACTGAGTGATGTTATGTCCCCTCAG -3'

Posted On

2022-07-18