Mutagenetix > Incidental Mutation

Incidental Mutation 'R8523:Srrm2'

658686

Institutional Source

Beutler Lab

Gene Symbol

Srrm2

Ensembl Gene

ENSMUSG00000039218

Gene Name

serine/arginine repetitive matrix 2

Synonyms

5033413A03Rik, SRm300

MMRRC Submission

067948-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.949) question?

Stock #

R8523 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

24009506-24043715 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to T at 24027489 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088621] [ENSMUST00000186961] [ENSMUST00000190686] [ENSMUST00000191385]

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000088621
AA Change: Y75F

SMART Domains

Protein: ENSMUSP00000085993
Gene: ENSMUSG00000039218
AA Change: Y75F

Domain	Start	End	E-Value	Type
low complexity region	82	157	N/A	INTRINSIC
low complexity region	161	188	N/A	INTRINSIC
low complexity region	223	238	N/A	INTRINSIC
internal_repeat_4	248	305	2.93e-5	PROSPERO
internal_repeat_5	259	388	2.93e-5	PROSPERO
low complexity region	407	423	N/A	INTRINSIC
CTD	464	584	5.25e-14	SMART
low complexity region	652	682	N/A	INTRINSIC
low complexity region	689	721	N/A	INTRINSIC
internal_repeat_6	732	778	4.88e-5	PROSPERO
low complexity region	779	795	N/A	INTRINSIC
low complexity region	802	824	N/A	INTRINSIC
low complexity region	839	853	N/A	INTRINSIC
internal_repeat_2	859	1124	6.34e-6	PROSPERO
internal_repeat_1	1055	1183	3.81e-6	PROSPERO
internal_repeat_4	1113	1166	2.93e-5	PROSPERO
internal_repeat_6	1169	1213	4.88e-5	PROSPERO
low complexity region	1236	1244	N/A	INTRINSIC
low complexity region	1275	1286	N/A	INTRINSIC
low complexity region	1290	1312	N/A	INTRINSIC
internal_repeat_2	1313	1485	6.34e-6	PROSPERO
low complexity region	1493	1525	N/A	INTRINSIC
low complexity region	1545	1555	N/A	INTRINSIC
low complexity region	1559	1720	N/A	INTRINSIC
low complexity region	1734	1919	N/A	INTRINSIC
low complexity region	1926	1951	N/A	INTRINSIC
low complexity region	1966	1980	N/A	INTRINSIC
low complexity region	2079	2105	N/A	INTRINSIC
internal_repeat_3	2107	2118	1.06e-5	PROSPERO
internal_repeat_3	2135	2146	1.06e-5	PROSPERO
low complexity region	2153	2172	N/A	INTRINSIC
internal_repeat_5	2182	2320	2.93e-5	PROSPERO
internal_repeat_1	2224	2368	3.81e-6	PROSPERO
low complexity region	2390	2425	N/A	INTRINSIC
low complexity region	2518	2539	N/A	INTRINSIC
low complexity region	2541	2550	N/A	INTRINSIC
low complexity region	2552	2571	N/A	INTRINSIC
low complexity region	2594	2607	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000186045

Predicted Effect

unknown
Transcript: ENSMUST00000186961
AA Change: Y171F

SMART Domains

Protein: ENSMUSP00000140813
Gene: ENSMUSG00000039218
AA Change: Y171F

Domain	Start	End	E-Value	Type
cwf21	58	103	5.6e-18	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000190686
AA Change: Y171F

SMART Domains

Protein: ENSMUSP00000139842
Gene: ENSMUSG00000039218
AA Change: Y171F

Domain	Start	End	E-Value	Type
Pfam:cwf21	58	102	1.5e-13	PFAM
low complexity region	178	253	N/A	INTRINSIC
low complexity region	257	284	N/A	INTRINSIC
low complexity region	319	334	N/A	INTRINSIC
internal_repeat_4	344	401	3.07e-5	PROSPERO
internal_repeat_5	355	484	3.07e-5	PROSPERO
low complexity region	503	519	N/A	INTRINSIC
CTD	560	680	5.25e-14	SMART
low complexity region	748	778	N/A	INTRINSIC
low complexity region	785	817	N/A	INTRINSIC
internal_repeat_6	828	874	5.11e-5	PROSPERO
low complexity region	875	891	N/A	INTRINSIC
low complexity region	898	920	N/A	INTRINSIC
low complexity region	935	949	N/A	INTRINSIC
internal_repeat_2	955	1220	6.62e-6	PROSPERO
internal_repeat_1	1151	1279	3.97e-6	PROSPERO
internal_repeat_4	1209	1262	3.07e-5	PROSPERO
internal_repeat_6	1265	1309	5.11e-5	PROSPERO
low complexity region	1332	1340	N/A	INTRINSIC
low complexity region	1371	1382	N/A	INTRINSIC
low complexity region	1386	1408	N/A	INTRINSIC
internal_repeat_2	1409	1581	6.62e-6	PROSPERO
low complexity region	1589	1621	N/A	INTRINSIC
low complexity region	1641	1651	N/A	INTRINSIC
low complexity region	1655	1816	N/A	INTRINSIC
low complexity region	1830	2015	N/A	INTRINSIC
low complexity region	2022	2047	N/A	INTRINSIC
low complexity region	2062	2076	N/A	INTRINSIC
low complexity region	2175	2201	N/A	INTRINSIC
internal_repeat_3	2203	2214	1.1e-5	PROSPERO
internal_repeat_3	2231	2242	1.1e-5	PROSPERO
low complexity region	2249	2268	N/A	INTRINSIC
internal_repeat_5	2278	2416	3.07e-5	PROSPERO
internal_repeat_1	2320	2464	3.97e-6	PROSPERO
low complexity region	2486	2521	N/A	INTRINSIC
low complexity region	2614	2635	N/A	INTRINSIC
low complexity region	2637	2646	N/A	INTRINSIC
low complexity region	2648	2667	N/A	INTRINSIC
low complexity region	2690	2703	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000191385
AA Change: Y75F

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap13	G	A	7: 75,380,213 (GRCm39)	R462H	probably damaging	Het
Ammecr1l	T	C	18: 31,905,152 (GRCm39)	F131S	probably damaging	Het
Apbb1ip	A	C	2: 22,709,648 (GRCm39)	D35A	unknown	Het
Arhgap12	A	T	18: 6,111,976 (GRCm39)	D129E	probably benign	Het
Arpc1b	A	G	5: 145,061,492 (GRCm39)	D163G	probably damaging	Het
Atxn7l1	A	T	12: 33,396,023 (GRCm39)	T251S	probably benign	Het
Best1	T	C	19: 9,969,027 (GRCm39)	I230V	possibly damaging	Het
Brca2	A	G	5: 150,483,613 (GRCm39)	T2888A	possibly damaging	Het
Cad	T	C	5: 31,215,450 (GRCm39)	V87A	probably damaging	Het
Ccdc168	A	T	1: 44,099,994 (GRCm39)	I368K	possibly damaging	Het
Ccdc39	C	T	3: 33,869,560 (GRCm39)		probably null	Het
Clcn1	T	A	6: 42,284,523 (GRCm39)	C548*	probably null	Het
Col18a1	A	G	10: 76,890,068 (GRCm39)	S1678P	probably damaging	Het
Col6a6	T	C	9: 105,651,987 (GRCm39)	N1008S	possibly damaging	Het
Defb41	A	T	1: 18,321,519 (GRCm39)	C32S	possibly damaging	Het
Dnah6	T	C	6: 73,072,171 (GRCm39)	N2437S	probably damaging	Het
Drosha	T	C	15: 12,834,408 (GRCm39)	Y171H	unknown	Het
Ehd1	T	C	19: 6,344,613 (GRCm39)	L291P	probably damaging	Het
Eif3c	A	T	7: 126,147,069 (GRCm39)	H734Q	possibly damaging	Het
Erich5	A	T	15: 34,471,502 (GRCm39)	T244S	probably benign	Het
Fam186b	T	A	15: 99,177,613 (GRCm39)	H571L	probably benign	Het
Fer1l5	A	G	1: 36,426,271 (GRCm39)	K360E	probably benign	Het
Fga	A	T	3: 82,938,158 (GRCm39)	I178F	probably damaging	Het
Gale	A	T	4: 135,694,987 (GRCm39)	T320S	probably benign	Het
Gm11232	A	T	4: 71,675,465 (GRCm39)	S99T	probably benign	Het
Gpr137	C	T	19: 6,917,803 (GRCm39)	W94*	probably null	Het
Grm7	T	A	6: 111,223,280 (GRCm39)	M440K	possibly damaging	Het
Hacd4	A	G	4: 88,353,286 (GRCm39)	F69L	probably damaging	Het
Hdac7	T	A	15: 97,706,251 (GRCm39)	H304L	probably damaging	Het
Herc1	T	A	9: 66,358,224 (GRCm39)	I2435N	probably benign	Het
Itgb7	G	A	15: 102,124,957 (GRCm39)	R755W	probably damaging	Het
Kdm3b	G	T	18: 34,926,129 (GRCm39)	A90S	probably benign	Het
Mcmdc2	G	A	1: 9,981,946 (GRCm39)	M1I	probably null	Het
Mitd1	A	G	1: 37,918,639 (GRCm39)		probably null	Het
Myh10	A	T	11: 68,688,235 (GRCm39)	Q1232L	probably benign	Het
Myo1a	C	A	10: 127,547,027 (GRCm39)	N362K	probably damaging	Het
N4bp1	G	A	8: 87,579,789 (GRCm39)	T671I	probably damaging	Het
Nav3	A	T	10: 109,659,138 (GRCm39)	D826E	probably damaging	Het
Negr1	C	T	3: 156,866,297 (GRCm39)	T282M	probably damaging	Het
Notch1	G	A	2: 26,354,917 (GRCm39)	H1837Y	possibly damaging	Het
Or2m12	A	T	16: 19,104,851 (GRCm39)	V214E	probably benign	Het
Or52e19b	A	T	7: 103,032,413 (GRCm39)	F265L	probably benign	Het
Or5m13	T	A	2: 85,748,407 (GRCm39)	I46N	probably damaging	Het
Or7e177	A	G	9: 20,212,093 (GRCm39)	N200S	probably benign	Het
Pard6a	T	C	8: 106,428,881 (GRCm39)	C47R	probably benign	Het
Parp2	T	C	14: 51,057,247 (GRCm39)		probably null	Het
Pck1	C	A	2: 172,999,064 (GRCm39)	A410D	probably damaging	Het
Pdzph1	G	A	17: 59,191,008 (GRCm39)	L85F	probably damaging	Het
Piezo2	A	G	18: 63,279,873 (GRCm39)	S1P	probably damaging	Het
Pld1	T	A	3: 28,140,025 (GRCm39)	V615D	probably damaging	Het
Plekha7	T	G	7: 115,907,164 (GRCm39)	I23L	probably benign	Het
Prkcz	T	G	4: 155,346,968 (GRCm39)	D388A	probably damaging	Het
Rab36	A	G	10: 74,888,335 (GRCm39)	R260G	probably benign	Het
Reln	C	A	5: 22,209,229 (GRCm39)	R1116S	probably damaging	Het
Rskr	A	T	11: 78,184,210 (GRCm39)	M225L	probably benign	Het
Rundc3b	T	G	5: 8,619,505 (GRCm39)	K151Q	probably damaging	Het
Scaf11	A	G	15: 96,316,988 (GRCm39)	S859P	probably damaging	Het
Slc25a32	C	T	15: 38,963,281 (GRCm39)	R180H	probably benign	Het
Slc4a9	G	A	18: 36,665,196 (GRCm39)	G443E	possibly damaging	Het
Slmap	T	A	14: 26,150,965 (GRCm39)	K534N	probably damaging	Het
Sncaip	G	A	18: 52,971,088 (GRCm39)	A3T	probably damaging	Het
Spata31d1c	G	T	13: 65,180,991 (GRCm39)	S30I	probably damaging	Het
Srrm1	A	T	4: 135,051,313 (GRCm39)	V789E	unknown	Het
St7l	T	C	3: 104,775,373 (GRCm39)	F83S	probably damaging	Het
Taf15	C	T	11: 83,375,678 (GRCm39)	Q48*	probably null	Het
Tek	A	T	4: 94,687,403 (GRCm39)	D172V	probably benign	Het
Tmem232	T	C	17: 65,785,366 (GRCm39)	Y198C	probably damaging	Het
Tns3	A	T	11: 8,398,779 (GRCm39)	V1191E	probably damaging	Het
Togaram1	A	G	12: 65,067,088 (GRCm39)	D1710G	probably damaging	Het
Trav16d-dv11	T	C	14: 53,285,122 (GRCm39)	I66T	probably benign	Het
Ttn	T	A	2: 76,577,289 (GRCm39)	T24535S	possibly damaging	Het
Ttn	A	T	2: 76,730,087 (GRCm39)	L911*	probably null	Het
Ube4a	A	G	9: 44,861,130 (GRCm39)	S227P	probably damaging	Het
Ubqln1	T	C	13: 58,339,569 (GRCm39)	T352A	probably benign	Het
Vmn1r174	C	T	7: 23,454,182 (GRCm39)	P283S	probably damaging	Het
Vmn1r59	T	C	7: 5,457,053 (GRCm39)	T236A	probably damaging	Het
Vmn2r3	T	C	3: 64,182,311 (GRCm39)	I463V	probably benign	Het
Wdr95	A	G	5: 149,497,461 (GRCm39)	D213G	probably damaging	Het
Zbtb49	T	A	5: 38,370,669 (GRCm39)	H404L	probably damaging	Het
Zfp879	A	G	11: 50,728,757 (GRCm39)	M79T	probably benign	Het
Zmiz2	G	A	11: 6,352,441 (GRCm39)	C600Y	probably damaging	Het

Other mutations in Srrm2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00421:Srrm2	APN	17	24,031,452 (GRCm39)	missense	probably benign	0.23
IGL00484:Srrm2	APN	17	24,037,492 (GRCm39)	missense	probably benign	0.23
IGL01413:Srrm2	APN	17	24,034,999 (GRCm39)	unclassified	probably benign
IGL02272:Srrm2	APN	17	24,034,756 (GRCm39)	unclassified	probably benign
IGL02279:Srrm2	APN	17	24,034,306 (GRCm39)	unclassified	probably benign
IGL02325:Srrm2	APN	17	24,029,453 (GRCm39)	unclassified	probably benign
IGL02947:Srrm2	APN	17	24,029,720 (GRCm39)	missense	probably benign	0.23
IGL03002:Srrm2	APN	17	24,034,708 (GRCm39)	unclassified	probably benign
BB009:Srrm2	UTSW	17	24,037,501 (GRCm39)	missense	probably benign	0.23
BB019:Srrm2	UTSW	17	24,037,501 (GRCm39)	missense	probably benign	0.23
R0173:Srrm2	UTSW	17	24,034,103 (GRCm39)	unclassified	probably benign
R1018:Srrm2	UTSW	17	24,041,514 (GRCm39)	missense	probably damaging	0.98
R1109:Srrm2	UTSW	17	24,038,591 (GRCm39)	unclassified	probably benign
R1199:Srrm2	UTSW	17	24,036,725 (GRCm39)	unclassified	probably benign
R1471:Srrm2	UTSW	17	24,039,770 (GRCm39)	missense	probably damaging	1.00
R1478:Srrm2	UTSW	17	24,034,876 (GRCm39)	missense	probably benign	0.23
R1618:Srrm2	UTSW	17	24,037,906 (GRCm39)	unclassified	probably benign
R1678:Srrm2	UTSW	17	24,037,960 (GRCm39)	missense	probably benign	0.23
R1853:Srrm2	UTSW	17	24,039,499 (GRCm39)	missense	probably damaging	1.00
R1968:Srrm2	UTSW	17	24,040,465 (GRCm39)	missense	probably damaging	1.00
R2094:Srrm2	UTSW	17	24,031,403 (GRCm39)	unclassified	probably benign
R2102:Srrm2	UTSW	17	24,036,722 (GRCm39)	unclassified	probably benign
R2156:Srrm2	UTSW	17	24,037,237 (GRCm39)	missense	probably benign	0.23
R2214:Srrm2	UTSW	17	24,035,719 (GRCm39)	unclassified	probably benign
R2913:Srrm2	UTSW	17	24,034,658 (GRCm39)	unclassified	probably benign
R3721:Srrm2	UTSW	17	24,041,549 (GRCm39)	small deletion	probably benign
R4411:Srrm2	UTSW	17	24,029,442 (GRCm39)	unclassified	probably benign
R4412:Srrm2	UTSW	17	24,029,442 (GRCm39)	unclassified	probably benign
R4413:Srrm2	UTSW	17	24,029,442 (GRCm39)	unclassified	probably benign
R4583:Srrm2	UTSW	17	24,038,593 (GRCm39)	unclassified	probably benign
R4682:Srrm2	UTSW	17	24,034,666 (GRCm39)	missense	probably benign	0.23
R4910:Srrm2	UTSW	17	24,034,362 (GRCm39)	unclassified	probably benign
R4943:Srrm2	UTSW	17	24,041,389 (GRCm39)	missense	possibly damaging	0.94
R5023:Srrm2	UTSW	17	24,038,291 (GRCm39)	unclassified	probably benign
R5033:Srrm2	UTSW	17	24,039,592 (GRCm39)	missense	probably damaging	1.00
R5163:Srrm2	UTSW	17	24,038,524 (GRCm39)	unclassified	probably benign
R5186:Srrm2	UTSW	17	24,035,561 (GRCm39)	missense	probably benign	0.23
R5197:Srrm2	UTSW	17	24,036,358 (GRCm39)	missense	probably benign	0.23
R5366:Srrm2	UTSW	17	24,037,678 (GRCm39)	missense	probably benign	0.23
R5483:Srrm2	UTSW	17	24,040,246 (GRCm39)	missense	probably damaging	0.96
R5551:Srrm2	UTSW	17	24,037,450 (GRCm39)	unclassified	probably benign
R5602:Srrm2	UTSW	17	24,038,311 (GRCm39)	unclassified	probably benign
R5733:Srrm2	UTSW	17	24,040,360 (GRCm39)	missense	probably damaging	0.98
R5774:Srrm2	UTSW	17	24,037,249 (GRCm39)	unclassified	probably benign
R5909:Srrm2	UTSW	17	24,040,291 (GRCm39)	missense	probably benign	0.27
R5961:Srrm2	UTSW	17	24,039,083 (GRCm39)	unclassified	probably benign
R6122:Srrm2	UTSW	17	24,039,330 (GRCm39)	missense	possibly damaging	0.58
R6906:Srrm2	UTSW	17	24,039,337 (GRCm39)	missense	probably damaging	0.97
R7084:Srrm2	UTSW	17	24,039,290 (GRCm39)	missense	probably damaging	0.99
R7177:Srrm2	UTSW	17	24,035,747 (GRCm39)	missense	unknown
R7197:Srrm2	UTSW	17	24,037,198 (GRCm39)	missense	unknown
R7442:Srrm2	UTSW	17	24,039,091 (GRCm39)	missense	unknown
R7644:Srrm2	UTSW	17	24,038,294 (GRCm39)	missense	unknown
R7664:Srrm2	UTSW	17	24,039,955 (GRCm39)	missense	probably damaging	0.99
R7874:Srrm2	UTSW	17	24,034,652 (GRCm39)	missense	unknown
R7932:Srrm2	UTSW	17	24,037,501 (GRCm39)	missense	probably benign	0.23
R7950:Srrm2	UTSW	17	24,027,084 (GRCm39)	missense	unknown
R7958:Srrm2	UTSW	17	24,040,286 (GRCm39)	missense	probably benign	0.25
R8081:Srrm2	UTSW	17	24,039,219 (GRCm39)	missense	probably damaging	1.00
R8118:Srrm2	UTSW	17	24,027,057 (GRCm39)	missense	unknown
R8174:Srrm2	UTSW	17	24,034,297 (GRCm39)	missense	unknown
R8191:Srrm2	UTSW	17	24,039,219 (GRCm39)	missense	probably damaging	1.00
R8334:Srrm2	UTSW	17	24,027,330 (GRCm39)	missense	unknown
R8728:Srrm2	UTSW	17	24,038,831 (GRCm39)	missense	unknown
R8912:Srrm2	UTSW	17	24,038,575 (GRCm39)	missense	probably benign	0.23
R9209:Srrm2	UTSW	17	24,039,880 (GRCm39)	missense	probably benign	0.05
RF006:Srrm2	UTSW	17	24,031,562 (GRCm39)	missense	unknown
Z1176:Srrm2	UTSW	17	24,036,157 (GRCm39)	missense	unknown
Z1177:Srrm2	UTSW	17	24,036,484 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AGTCCCTAGCCTAACTGTTTAATTC -3'
(R):5'- AATCTCAACAGTTAGGAGGCAG -3'

Sequencing Primer
(F):5'- CTAAATTAGGGCTCTGATTTTTGCTC -3'
(R):5'- GATCTCTAATTTAAAGGCCAGCC -3'

Posted On

2021-01-18