Mutagenetix > Incidental Mutation

Incidental Mutation 'R9622:Scaf8'

724905

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: 0.761) question?

Stock #

R9622 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

3165247-3249134 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 3248170 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 1164 (F1164L)

Ref Sequence

ENSEMBL: ENSMUSP00000076024 (fasta)

Gene Model

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

AlphaFold

Q6DID3

Predicted Effect

probably benign
Transcript: ENSMUST00000076734
AA Change: F1164L

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000076024
Gene: ENSMUSG00000046201
AA Change: F1164L

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: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim2	A	G	5: 36,006,889 (GRCm39)	K435E	probably damaging	Het
Acly	T	C	11: 100,395,785 (GRCm39)	T412A	probably damaging	Het
Aldh3b2	T	A	19: 4,029,489 (GRCm39)	D287E	probably benign	Het
Asphd1	G	A	7: 126,547,974 (GRCm39)	P110S		Het
Atg7	T	C	6: 114,654,993 (GRCm39)	L142P	probably benign	Het
Atp13a4	T	C	16: 29,239,277 (GRCm39)	I796V		Het
Bbx	A	G	16: 50,095,022 (GRCm39)	V98A	probably damaging	Het
Brca2	T	C	5: 150,480,410 (GRCm39)	S2727P	probably damaging	Het
Camk1	T	A	6: 113,318,850 (GRCm39)	D21V	possibly damaging	Het
Cdc5l	A	T	17: 45,715,709 (GRCm39)	D634E	probably benign	Het
Cfap418	T	C	4: 10,893,304 (GRCm39)	I141T	possibly damaging	Het
Cyfip1	A	T	7: 55,528,853 (GRCm39)	D275V	possibly damaging	Het
Cyp4a30b	A	G	4: 115,328,162 (GRCm39)	E477G	probably damaging	Het
Cyp4f16	C	T	17: 32,769,246 (GRCm39)	P379S	probably damaging	Het
Dchs2	C	T	3: 83,263,766 (GRCm39)	Q3345*	probably null	Het
Dnaaf1	A	G	8: 120,315,001 (GRCm39)	T270A	possibly damaging	Het
Dnah3	A	G	7: 119,561,356 (GRCm39)	V334A		Het
Dnhd1	T	C	7: 105,353,342 (GRCm39)	F2832L	probably benign	Het
Dock8	A	G	19: 25,098,545 (GRCm39)	N623S	probably null	Het
Eif4enif1	T	C	11: 3,165,714 (GRCm39)	I97T	probably benign	Het
Elmo1	C	G	13: 20,392,310 (GRCm39)	P29A	probably benign	Het
Erich6	G	C	3: 58,544,162 (GRCm39)	P142A	possibly damaging	Het
Fam135b	T	C	15: 71,397,686 (GRCm39)	R125G	probably damaging	Het
Fcrla	T	A	1: 170,749,808 (GRCm39)	H83L	probably damaging	Het
Flt3	C	T	5: 147,303,841 (GRCm39)	E366K	possibly damaging	Het
Gabbr2	C	T	4: 46,724,283 (GRCm39)		probably null	Het
Gigyf1	T	A	5: 137,522,926 (GRCm39)	L809*	probably null	Het
Glg1	C	T	8: 111,899,133 (GRCm39)	G711R	probably damaging	Het
Gp1bb	T	C	16: 18,439,527 (GRCm39)	E189G	probably benign	Het
H2-Q1	A	T	17: 35,542,532 (GRCm39)	I326F	probably benign	Het
Hoxb3	A	T	11: 96,235,420 (GRCm39)	K116*	probably null	Het
Kcnb1	T	C	2: 167,030,161 (GRCm39)	Y128C	probably damaging	Het
Kif5b	G	A	18: 6,225,672 (GRCm39)	R171C	probably damaging	Het
Lcn4	G	A	2: 26,561,228 (GRCm39)	Q18*	probably null	Het
Lrp1b	G	A	2: 40,779,354 (GRCm39)	Q2677*	probably null	Het
Map4k3	T	A	17: 80,958,538 (GRCm39)	T145S	probably damaging	Het
Mas1	T	C	17: 13,060,898 (GRCm39)	E175G	probably benign	Het
Metap2	T	C	10: 93,707,366 (GRCm39)	T202A	probably benign	Het
Mras	A	T	9: 99,275,054 (GRCm39)	M131K	probably benign	Het
Mtor	T	C	4: 148,568,169 (GRCm39)	V1092A	probably damaging	Het
Mug2	T	C	6: 122,028,751 (GRCm39)	S582P	probably benign	Het
Myo5b	A	G	18: 74,848,017 (GRCm39)	N1085S	probably damaging	Het
Nav3	T	C	10: 109,603,103 (GRCm39)	T1149A	probably benign	Het
Nipbl	A	T	15: 8,366,373 (GRCm39)	S1239T	probably benign	Het
Nkpd1	C	A	7: 19,257,867 (GRCm39)	R549S	probably benign	Het
Or10a3m	T	A	7: 108,312,677 (GRCm39)	M39K	probably benign	Het
Or10p1	G	A	10: 129,444,084 (GRCm39)	H89Y	probably benign	Het
Or1j1	A	G	2: 36,702,621 (GRCm39)	L161P	probably damaging	Het
Or51i2	T	A	7: 103,689,522 (GRCm39)	V173D	probably damaging	Het
Pcdh18	T	C	3: 49,711,229 (GRCm39)	N29D	probably benign	Het
Pdzrn4	T	C	15: 92,294,949 (GRCm39)	W52R	probably benign	Het
Plekhb1	T	C	7: 100,304,588 (GRCm39)	K39E	probably damaging	Het
Pramel28	A	G	4: 143,692,348 (GRCm39)	S218P	probably benign	Het
Psmb4	C	A	3: 94,792,285 (GRCm39)	E212D	probably benign	Het
Rcc1l	A	G	5: 134,205,348 (GRCm39)	L69P	probably damaging	Het
Robo2	T	C	16: 73,729,952 (GRCm39)	R1082G	probably benign	Het
Rorb	T	C	19: 18,955,115 (GRCm39)	Y167C	probably damaging	Het
Sanbr	T	A	11: 23,534,590 (GRCm39)	K589I	probably damaging	Het
Sbsn	GGAAATATGGCAGACAAGTTTGGTCAGGGGGCCCACCATGCTTTTGGTCAGGGCAG	GG	7: 30,452,067 (GRCm39)		probably benign	Het
Scn10a	A	T	9: 119,438,046 (GRCm39)	M1940K	probably benign	Het
Serpinb2	A	G	1: 107,452,298 (GRCm39)	N292S	probably benign	Het
Sparcl1	C	A	5: 104,234,998 (GRCm39)	V506L	possibly damaging	Het
Stt3a	A	G	9: 36,661,025 (GRCm39)	V262A	possibly damaging	Het
Syt17	C	A	7: 118,036,191 (GRCm39)	M58I	probably benign	Het
Tas2r134	A	C	2: 51,518,358 (GRCm39)	N279T	possibly damaging	Het
Tbc1d2	T	C	4: 46,609,065 (GRCm39)	E724G	probably damaging	Het
Teddm1b	T	A	1: 153,750,620 (GRCm39)	L143Q		Het
Tlk1	T	A	2: 70,617,281 (GRCm39)	R66S	probably damaging	Het
Tmem139	A	T	6: 42,240,176 (GRCm39)		probably null	Het
Tom1l2	T	C	11: 60,151,942 (GRCm39)	Y155C	possibly damaging	Het
Trmt1l	C	A	1: 151,304,710 (GRCm39)	S28*	probably null	Het
Ttf2	T	C	3: 100,859,918 (GRCm39)	I679V	probably benign	Het
Unc13b	T	G	4: 43,172,513 (GRCm39)	F1114V		Het
Vmn2r25	T	A	6: 123,816,579 (GRCm39)	D334V	probably damaging	Het
Vps13c	T	G	9: 67,856,715 (GRCm39)	Y2581D	probably damaging	Het
Xkr5	A	G	8: 18,984,247 (GRCm39)	S432P	probably benign	Het
Zc2hc1b	G	A	10: 13,043,677 (GRCm39)	P73S	possibly damaging	Het
Zfhx2	A	C	14: 55,303,483 (GRCm39)	F1500L	probably benign	Het
Zfp3	T	G	11: 70,662,739 (GRCm39)	S233A	possibly damaging	Het
Zmat5	T	C	11: 4,687,453 (GRCm39)	W169R	probably damaging	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
R9520:Scaf8	UTSW	17	3,248,285 (GRCm39)	missense	probably damaging	1.00
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
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'- AGCATCGAGTTCTGCCTGTC -3'
(R):5'- AGAGTTCAGGGTCCTTCTGTACTG -3'

Sequencing Primer
(F):5'- CATCGAGTTCTGCCTGTCTTTGG -3'
(R):5'- CCTTCTGTACTGGTAAAGGCG -3'

Posted On

2022-09-12