Mutagenetix > Incidental Mutation

Incidental Mutation 'R7675:Sap30l'

592425

Institutional Source

Beutler Lab

Gene Symbol

Sap30l

Ensembl Gene

ENSMUSG00000020519

Gene Name

SAP30-like

Synonyms

2310079P12Rik, L55

MMRRC Submission

045706-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.415) question?

Stock #

R7675 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

57692463-57701043 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 57700867 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 174 (K174E)

Ref Sequence

ENSEMBL: ENSMUSP00000020826 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020826]

AlphaFold

Q5SQF8

Predicted Effect

probably damaging
Transcript: ENSMUST00000020826
AA Change: K174E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000020826
Gene: ENSMUSG00000020519
AA Change: K174E

Domain	Start	End	E-Value	Type
low complexity region	14	22	N/A	INTRINSIC
Pfam:zf-SAP30	23	94	4.5e-40	PFAM
Pfam:SAP30_Sin3_bdg	113	165	7.5e-28	PFAM

Meta Mutation Damage Score

0.2122

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

97% (28/29)

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010109A12Rik	T	C	5: 93,361,233 (GRCm39)	S96P	unknown	Het
Acaca	A	G	11: 84,206,742 (GRCm39)	E1534G	probably benign	Het
Adam7	A	T	14: 68,737,302 (GRCm39)	D773E	probably benign	Het
Cacna1s	T	A	1: 136,038,612 (GRCm39)	I1398N	probably damaging	Het
Calu	C	T	6: 29,356,516 (GRCm39)	T14I	probably benign	Het
Casp8	A	G	1: 58,863,106 (GRCm39)	D2G	possibly damaging	Het
Cldn1	T	C	16: 26,190,261 (GRCm39)	N39S	probably benign	Het
Clspn	T	C	4: 126,460,113 (GRCm39)	S447P	probably benign	Het
Eef2k	A	G	7: 120,457,727 (GRCm39)	T29A	probably benign	Het
Gm5519	G	C	19: 33,802,428 (GRCm39)	G157A	probably benign	Het
Gucy2c	A	G	6: 136,693,030 (GRCm39)	V723A	possibly damaging	Het
Ighv1-69	A	T	12: 115,587,209 (GRCm39)	W3R	probably damaging	Het
Inava	G	T	1: 136,143,741 (GRCm39)	A565E	probably benign	Het
Krtap16-1	A	G	11: 99,876,259 (GRCm39)	C382R	possibly damaging	Het
Lrrc8a	G	A	2: 30,145,680 (GRCm39)	D165N	probably damaging	Het
Mideas	G	T	12: 84,220,574 (GRCm39)	P127T	probably damaging	Het
Naaladl2	T	A	3: 24,605,816 (GRCm39)	M148L	probably benign	Het
Nphp3	A	T	9: 103,893,287 (GRCm39)	E424D	probably benign	Het
Prpf40a	T	C	2: 53,035,648 (GRCm39)	K714R	possibly damaging	Het
Ptpn23	A	T	9: 110,216,094 (GRCm39)	L1254*	probably null	Het
Serpinb9d	C	T	13: 33,386,759 (GRCm39)	Q276*	probably null	Het
Sp140l2	C	T	1: 85,224,736 (GRCm39)	M266I	probably benign	Het
Spata31f3	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	4: 42,871,823 (GRCm39)		probably benign	Het
Tex14	A	G	11: 87,400,504 (GRCm39)	D432G	probably damaging	Het
Tmsb10b	A	T	7: 24,561,784 (GRCm39)	T28S	probably benign	Het
Unc119	G	A	11: 78,234,423 (GRCm39)	G11R	probably damaging	Het
Usp36	A	G	11: 118,154,522 (GRCm39)	V965A	probably benign	Het
Vmn2r4	A	T	3: 64,322,657 (GRCm39)	Y21N	probably benign	Het
Zbtb38	G	T	9: 96,567,594 (GRCm39)	D1163E	probably benign	Het
Zfp62	A	G	11: 49,106,847 (GRCm39)	I313V	possibly damaging	Het
Zfp980	C	T	4: 145,428,164 (GRCm39)	Q298*	probably null	Het

Other mutations in Sap30l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01996:Sap30l	APN	11	57,700,777 (GRCm39)	nonsense	probably null
IGL03156:Sap30l	APN	11	57,696,994 (GRCm39)	critical splice donor site	probably null
R1771:Sap30l	UTSW	11	57,696,925 (GRCm39)	missense	probably damaging	1.00
R1808:Sap30l	UTSW	11	57,700,771 (GRCm39)	missense	probably benign	0.00
R4863:Sap30l	UTSW	11	57,696,880 (GRCm39)	missense	probably damaging	1.00
R7594:Sap30l	UTSW	11	57,700,947 (GRCm39)	splice site	probably null
R7619:Sap30l	UTSW	11	57,698,887 (GRCm39)	missense	probably damaging	1.00
R8720:Sap30l	UTSW	11	57,698,875 (GRCm39)	missense	probably damaging	1.00
R9708:Sap30l	UTSW	11	57,696,936 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCTGGAAGTAGCTTCTCTTCC -3'
(R):5'- TGTGAGAATATAATCCTCCTGACCG -3'

Sequencing Primer
(F):5'- CCCTCTTTGCAGCGTGTAAGATG -3'
(R):5'- TCCTGACCGAGACATTTACAGTATC -3'

Posted On

2019-11-12