Mutagenetix > Incidental Mutation

Incidental Mutation 'R9002:Sarnp'

685040

Institutional Source

Beutler Lab

Gene Symbol

Sarnp

Ensembl Gene

ENSMUSG00000078427

Gene Name

SAP domain containing ribonucleoprotein

Synonyms

1110005A23Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.934) question?

Stock #

R9002 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

128657633-128713507 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 128657842 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000100863 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026409] [ENSMUST00000026410] [ENSMUST00000105230] [ENSMUST00000217685] [ENSMUST00000217745] [ENSMUST00000219215] [ENSMUST00000219508] [ENSMUST00000219512] [ENSMUST00000219524] [ENSMUST00000220381]

AlphaFold

Q9D1J3

Predicted Effect

probably benign
Transcript: ENSMUST00000026409

SMART Domains

Protein: ENSMUSP00000026409
Gene: ENSMUSG00000025353

Domain	Start	End	E-Value	Type
Pfam:ORMDL	11	146	4.4e-57	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000026410

SMART Domains

Protein: ENSMUSP00000026410
Gene: ENSMUSG00000025354

Domain	Start	End	E-Value	Type
low complexity region	17	28	N/A	INTRINSIC
low complexity region	76	90	N/A	INTRINSIC
low complexity region	164	176	N/A	INTRINSIC
transmembrane domain	300	322	N/A	INTRINSIC
transmembrane domain	327	349	N/A	INTRINSIC
DnaJ	443	500	1.3e-21	SMART
Pfam:Jiv90	532	621	5.9e-40	PFAM
low complexity region	690	700	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000105230

SMART Domains

Protein: ENSMUSP00000100863
Gene: ENSMUSG00000078427

Domain	Start	End	E-Value	Type
SAP	8	42	2.49e-10	SMART
low complexity region	43	80	N/A	INTRINSIC
internal_repeat_1	117	130	5.45e-5	PROSPERO
low complexity region	165	180	N/A	INTRINSIC
internal_repeat_1	197	210	5.45e-5	PROSPERO

Predicted Effect

probably benign
Transcript: ENSMUST00000217685

Predicted Effect

probably benign
Transcript: ENSMUST00000217745

Predicted Effect

probably benign
Transcript: ENSMUST00000219215

Predicted Effect

probably benign
Transcript: ENSMUST00000219508

Predicted Effect

probably benign
Transcript: ENSMUST00000219512

Predicted Effect

probably benign
Transcript: ENSMUST00000219524

Predicted Effect

probably benign
Transcript: ENSMUST00000220381

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is upregulated in response to various cytokines. The encoded protein may play a role in cell cycle progression. A translocation between this gene and the myeloid/lymphoid leukemia gene, resulting in expression of a chimeric protein, has been associated with acute myelomonocytic leukemia. Pseudogenes exist on chromosomes 7 and 8. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,241,926 (GRCm39)	M1263K	possibly damaging	Het
Abca8b	C	T	11: 109,843,456 (GRCm39)	D985N	probably benign	Het
Ak5	A	T	3: 152,359,091 (GRCm39)	M207K	probably damaging	Het
Akt1	T	C	12: 112,626,048 (GRCm39)	I75V	probably benign	Het
Ank	T	A	15: 27,544,413 (GRCm39)	L58*	probably null	Het
Ap1g1	A	C	8: 110,581,738 (GRCm39)	T666P	probably benign	Het
Ap3b2	A	T	7: 81,117,192 (GRCm39)	S615T	probably benign	Het
Ash1l	G	T	3: 88,888,715 (GRCm39)	R198L	probably benign	Het
Axl	A	T	7: 25,478,103 (GRCm39)	C199S	probably damaging	Het
C1d	T	C	11: 17,212,787 (GRCm39)	L44S	probably damaging	Het
Chst13	G	A	6: 90,286,506 (GRCm39)	P152L	probably damaging	Het
Col4a4	A	G	1: 82,449,032 (GRCm39)	L1186P	probably benign	Het
Ctdsp2	T	A	10: 126,832,061 (GRCm39)	I223N	probably damaging	Het
Efcab3	A	T	11: 104,920,822 (GRCm39)	D4671V	probably damaging	Het
Eml1	T	A	12: 108,504,438 (GRCm39)	I799N	probably damaging	Het
Fbxw18	G	A	9: 109,519,660 (GRCm39)	T282I	probably damaging	Het
Fmo2	A	T	1: 162,705,647 (GRCm39)	C397*	probably null	Het
Gbp10	C	A	5: 105,369,847 (GRCm39)	V262L	probably benign	Het
Gm45871	A	T	18: 90,609,968 (GRCm39)	H402L	probably damaging	Het
Has1	T	C	17: 18,063,912 (GRCm39)	S576G	unknown	Het
Hat1	C	T	2: 71,271,647 (GRCm39)	R407W	probably damaging	Het
Hivep2	G	T	10: 14,008,157 (GRCm39)	R1585L	probably benign	Het
Ifi211	A	G	1: 173,733,894 (GRCm39)	V89A	possibly damaging	Het
Igkv4-59	T	C	6: 69,415,475 (GRCm39)	T27A	possibly damaging	Het
Irf9	T	A	14: 55,845,140 (GRCm39)	N333K	possibly damaging	Het
Jakmip2	C	T	18: 43,715,323 (GRCm39)	V68I	probably benign	Het
Kif1b	T	G	4: 149,275,712 (GRCm39)	I1400L	probably damaging	Het
Kif2b	C	T	11: 91,467,053 (GRCm39)	C410Y	probably benign	Het
Klk1b16	T	C	7: 43,790,189 (GRCm39)	L153P	possibly damaging	Het
Kndc1	C	T	7: 139,507,708 (GRCm39)	S1222F	possibly damaging	Het
Lama5	A	G	2: 179,838,311 (GRCm39)	C855R	probably damaging	Het
Mast3	A	G	8: 71,233,904 (GRCm39)	L947P	probably damaging	Het
Mblac2	C	A	13: 81,860,072 (GRCm39)	A142E	possibly damaging	Het
Mppe1	A	G	18: 67,358,925 (GRCm39)	S348P	possibly damaging	Het
Mroh8	A	C	2: 157,058,939 (GRCm39)	V909G	probably damaging	Het
Mthfd1	C	T	12: 76,350,754 (GRCm39)	T712M	probably benign	Het
Nek10	T	C	14: 14,980,590 (GRCm38)	L982P	probably damaging	Het
Nlrp4b	C	T	7: 10,448,886 (GRCm39)	T363I	probably damaging	Het
Nol10	A	G	12: 17,408,134 (GRCm39)	E120G	probably damaging	Het
Olfml1	T	C	7: 107,189,423 (GRCm39)	S163P	probably damaging	Het
Or2n1c	A	T	17: 38,519,555 (GRCm39)	N140Y	probably benign	Het
Or51a7	A	T	7: 102,614,618 (GRCm39)	I104F	probably damaging	Het
Or6ae1	T	C	7: 139,742,198 (GRCm39)	I222V	probably damaging	Het
Or8b43	T	A	9: 38,360,171 (GRCm39)	M1K	probably null	Het
Or8i2	T	C	2: 86,852,241 (GRCm39)	T216A	probably benign	Het
Pde6a	T	A	18: 61,419,060 (GRCm39)	L812Q	probably damaging	Het
Pdxp	T	A	15: 78,802,459 (GRCm39)	M231K	probably damaging	Het
Pi4ka	A	G	16: 17,117,317 (GRCm39)	L1368P		Het
Ppie	T	C	4: 123,024,344 (GRCm39)	N171S	possibly damaging	Het
Rimbp2	T	C	5: 128,865,356 (GRCm39)	H657R	probably benign	Het
Serpinb9c	T	C	13: 33,334,329 (GRCm39)	T266A	probably damaging	Het
Srgap3	T	A	6: 112,757,854 (GRCm39)	I218F	possibly damaging	Het
Susd1	C	A	4: 59,324,882 (GRCm39)	W717L	probably benign	Het
Tgfbi	A	G	13: 56,771,402 (GRCm39)	Y88C	probably damaging	Het
Tmc6	A	T	11: 117,661,308 (GRCm39)	F624Y	probably damaging	Het
Tnni2	A	G	7: 141,998,013 (GRCm39)	E172G	probably damaging	Het
Traf3ip1	T	C	1: 91,433,178 (GRCm39)	S316P	probably benign	Het
Tshr	C	A	12: 91,504,548 (GRCm39)	N495K	possibly damaging	Het
Ulk3	C	A	9: 57,500,542 (GRCm39)	A317E	probably damaging	Het
Usp24	T	C	4: 106,275,412 (GRCm39)	V2229A	possibly damaging	Het
Usp32	G	A	11: 84,944,777 (GRCm39)	R304C	probably damaging	Het
Usp40	C	T	1: 87,935,063 (GRCm39)	G28D	probably benign	Het
Vmn1r41	A	G	6: 89,724,109 (GRCm39)	K217E	possibly damaging	Het
Vmn2r73	T	A	7: 85,507,284 (GRCm39)	K676M	probably benign	Het
Vnn1	A	G	10: 23,775,349 (GRCm39)	T200A	possibly damaging	Het
Zc3hav1	A	G	6: 38,302,176 (GRCm39)	L698P	possibly damaging	Het

Other mutations in Sarnp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02947:Sarnp	APN	10	128,675,723 (GRCm39)	missense	probably benign	0.38
PIT4151001:Sarnp	UTSW	10	128,713,235 (GRCm39)	missense	probably benign	0.18
R1781:Sarnp	UTSW	10	128,669,191 (GRCm39)	missense	probably damaging	1.00
R4560:Sarnp	UTSW	10	128,682,412 (GRCm39)	missense	probably damaging	1.00
R4864:Sarnp	UTSW	10	128,669,212 (GRCm39)	missense	probably damaging	1.00
R5498:Sarnp	UTSW	10	128,689,063 (GRCm39)	missense	probably benign	0.25
R5832:Sarnp	UTSW	10	128,684,181 (GRCm39)	critical splice donor site	probably null
R5936:Sarnp	UTSW	10	128,684,640 (GRCm39)	missense	probably benign	0.04
R6959:Sarnp	UTSW	10	128,684,137 (GRCm39)	missense	possibly damaging	0.68
R7367:Sarnp	UTSW	10	128,669,247 (GRCm39)	missense	probably damaging	1.00
R7476:Sarnp	UTSW	10	128,669,223 (GRCm39)	missense	probably benign	0.00
R9528:Sarnp	UTSW	10	128,708,326 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTTTAGAGAGCCGTGGAAAGTG -3'
(R):5'- AACACCAGGTAACGATAGCG -3'

Sequencing Primer
(F):5'- CCGTGGAAAGTGGCCAAG -3'
(R):5'- CCAGGTAACGATAGCGATAAATTAC -3'

Posted On

2021-10-11