Mutagenetix > Incidental Mutation

Incidental Mutation 'R4972:Sh3d21'

384508

Institutional Source

Beutler Lab

Gene Symbol

Sh3d21

Ensembl Gene

ENSMUSG00000073758

Gene Name

SH3 domain containing 21

Synonyms

1700029G01Rik

MMRRC Submission

042567-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R4972 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

126044395-126057284 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 126046209 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 147 (K147R)

Ref Sequence

ENSEMBL: ENSMUSP00000092352 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052876] [ENSMUST00000094760] [ENSMUST00000097891] [ENSMUST00000106150] [ENSMUST00000106152]

AlphaFold

Q7TSG5

Predicted Effect

probably benign
Transcript: ENSMUST00000052876

SMART Domains

Protein: ENSMUSP00000054141
Gene: ENSMUSG00000050212

Domain	Start	End	E-Value	Type
Pfam:FAM176	7	154	5.3e-59	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000094760
AA Change: K147R

PolyPhen 2 Score 0.645 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000092352
Gene: ENSMUSG00000073758
AA Change: K147R

Domain	Start	End	E-Value	Type
SH3	68	125	7.11e-22	SMART
low complexity region	211	221	N/A	INTRINSIC
low complexity region	464	473	N/A	INTRINSIC
coiled coil region	482	510	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000097891
AA Change: K263R

PolyPhen 2 Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000095501
Gene: ENSMUSG00000073758
AA Change: K263R

Domain	Start	End	E-Value	Type
SH3	1	57	4.29e-7	SMART
low complexity region	66	76	N/A	INTRINSIC
SH3	86	141	2.96e-19	SMART
SH3	184	241	7.11e-22	SMART
low complexity region	327	337	N/A	INTRINSIC
low complexity region	580	589	N/A	INTRINSIC
coiled coil region	598	626	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106150

SMART Domains

Protein: ENSMUSP00000101756
Gene: ENSMUSG00000050212

Domain	Start	End	E-Value	Type
Pfam:FAM176	7	154	3e-63	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106152

SMART Domains

Protein: ENSMUSP00000101758
Gene: ENSMUSG00000050212

Domain	Start	End	E-Value	Type
Pfam:FAM176	7	154	3e-63	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122969

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141638

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142891

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152402

Meta Mutation Damage Score

0.0748

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.2%

Validation Efficiency

93% (82/88)

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	T	14: 32,383,361 (GRCm39)	I868N	possibly damaging	Het
A730013G03Rik	C	G	1: 192,516,081 (GRCm39)		noncoding transcript	Het
Actl11	A	G	9: 107,807,155 (GRCm39)	T493A	probably benign	Het
Actn1	T	C	12: 80,219,813 (GRCm39)	D686G	probably benign	Het
Adamts1	G	A	16: 85,592,833 (GRCm39)	T525I	probably damaging	Het
Adcy10	T	A	1: 165,384,431 (GRCm39)	L1064H	probably damaging	Het
AI661453	A	T	17: 47,777,324 (GRCm39)		probably benign	Het
Apba1	T	A	19: 23,889,900 (GRCm39)	S433T	probably benign	Het
Arid4b	T	A	13: 14,334,857 (GRCm39)	N355K	probably benign	Het
Bsn	A	T	9: 107,992,377 (GRCm39)	M1125K	probably damaging	Het
C2cd5	A	T	6: 142,958,950 (GRCm39)	M1003K	probably damaging	Het
Ccdc18	A	G	5: 108,339,869 (GRCm39)	M805V	probably benign	Het
Cep89	T	G	7: 35,131,977 (GRCm39)	L637R	probably damaging	Het
Col24a1	A	T	3: 145,215,439 (GRCm39)	I1444F	probably benign	Het
Commd4	A	T	9: 57,062,732 (GRCm39)	S175T	probably benign	Het
Coq7	A	G	7: 118,109,340 (GRCm39)	V236A	unknown	Het
Dctn2	C	T	10: 127,112,572 (GRCm39)	R176C	probably damaging	Het
Ddx31	T	C	2: 28,750,782 (GRCm39)	F389L	probably damaging	Het
Dgkz	C	T	2: 91,776,047 (GRCm39)	R72H	probably benign	Het
Dpysl4	A	G	7: 138,670,206 (GRCm39)	D24G	probably damaging	Het
Dydc1	A	G	14: 40,804,295 (GRCm39)	T106A	probably benign	Het
F13b	A	G	1: 139,438,661 (GRCm39)	Y355C	probably damaging	Het
Fcrl5	A	G	3: 87,361,957 (GRCm39)	M407V	probably benign	Het
Fzd5	C	A	1: 64,775,171 (GRCm39)	V197L	probably benign	Het
Galnt16	G	T	12: 80,619,103 (GRCm39)	E70*	probably null	Het
Gpr171	A	T	3: 59,005,386 (GRCm39)	F130I	probably damaging	Het
Grin3a	T	C	4: 49,770,484 (GRCm39)	N763D	probably damaging	Het
Gsta2	A	T	9: 78,244,961 (GRCm39)	M51K	probably damaging	Het
Gvin-ps3	T	C	7: 105,682,521 (GRCm39)		noncoding transcript	Het
Hacd3	A	T	9: 64,897,718 (GRCm39)	I298N	probably damaging	Het
Il18r1	C	T	1: 40,530,224 (GRCm39)	P317L	probably benign	Het
Iscu	T	A	5: 113,915,037 (GRCm39)		probably benign	Het
Kif6	A	G	17: 50,014,647 (GRCm39)	D250G	probably damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lcn6	T	A	2: 25,570,079 (GRCm39)	C82S	probably damaging	Het
Mob4	C	G	1: 55,190,161 (GRCm39)	L135V	possibly damaging	Het
Mpzl3	T	A	9: 44,973,554 (GRCm39)		probably benign	Het
Mvp	T	C	7: 126,588,970 (GRCm39)	D599G	probably damaging	Het
Myo1a	T	C	10: 127,552,178 (GRCm39)	Y766H	probably benign	Het
Myo5b	A	G	18: 74,760,264 (GRCm39)	H260R	probably damaging	Het
Nbea	C	T	3: 55,992,667 (GRCm39)	R313H	probably damaging	Het
Necab1	T	A	4: 14,978,216 (GRCm39)	D211V	probably damaging	Het
Nefl	G	T	14: 68,324,212 (GRCm39)		probably benign	Het
Nfx1	T	A	4: 40,976,375 (GRCm39)	D16E	probably benign	Het
Nlrp9a	G	T	7: 26,269,964 (GRCm39)	C797F	probably damaging	Het
Or4k36	T	A	2: 111,146,163 (GRCm39)	V113E	probably damaging	Het
Or5p5	A	G	7: 107,413,953 (GRCm39)	Q56R	probably benign	Het
Pde6b	A	G	5: 108,573,130 (GRCm39)	D500G	probably benign	Het
Pgs1	T	C	11: 117,896,719 (GRCm39)		probably null	Het
Polr3b	T	A	10: 84,473,988 (GRCm39)	I189N	probably damaging	Het
Ppwd1	A	T	13: 104,356,616 (GRCm39)	S300T	probably benign	Het
Prl2c2	A	C	13: 13,176,755 (GRCm39)	N55K	possibly damaging	Het
Prpf19	C	T	19: 10,876,709 (GRCm39)		probably benign	Het
Prph2	G	T	17: 47,221,733 (GRCm39)	L37F	possibly damaging	Het
Ptprg	G	T	14: 12,226,427 (GRCm38)	R565L	possibly damaging	Het
Rab8a	C	T	8: 72,925,119 (GRCm39)	T74M	probably damaging	Het
Rexo1	A	T	10: 80,385,527 (GRCm39)	F510L	probably damaging	Het
Rexo2	G	T	9: 48,390,689 (GRCm39)	T51K	probably damaging	Het
Skint6	A	G	4: 112,692,265 (GRCm39)	I1062T	probably benign	Het
Spag16	C	T	1: 70,764,087 (GRCm39)	R636W	probably damaging	Het
Spata16	T	C	3: 26,894,872 (GRCm39)	I307T	possibly damaging	Het
Speer4f2	T	G	5: 17,579,423 (GRCm39)	I74S	probably benign	Het
Svep1	T	A	4: 58,087,778 (GRCm39)	Y1767F	possibly damaging	Het
Swt1	T	C	1: 151,299,293 (GRCm39)	S7G	probably benign	Het
Tex9	A	G	9: 72,385,620 (GRCm39)		probably null	Het
Thsd7b	C	A	1: 130,116,309 (GRCm39)	P1354H	probably damaging	Het
Ticrr	A	G	7: 79,319,416 (GRCm39)	D467G	probably damaging	Het
Tmco5b	A	C	2: 113,127,338 (GRCm39)	D303A	probably damaging	Het
Trpm7	A	G	2: 126,665,978 (GRCm39)	V876A	probably damaging	Het
Ttc21a	G	A	9: 119,774,027 (GRCm39)	E245K	probably benign	Het
Vezt	C	T	10: 93,836,212 (GRCm39)		probably null	Het
Zscan20	G	A	4: 128,486,152 (GRCm39)	P183S	probably benign	Het

Other mutations in Sh3d21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02172:Sh3d21	APN	4	126,046,153 (GRCm39)	missense	probably benign
IGL02869:Sh3d21	APN	4	126,056,034 (GRCm39)	missense	probably benign	0.23
R0827:Sh3d21	UTSW	4	126,046,064 (GRCm39)	unclassified	probably benign
R0834:Sh3d21	UTSW	4	126,045,065 (GRCm39)	missense	probably benign	0.02
R0890:Sh3d21	UTSW	4	126,044,945 (GRCm39)	missense	probably damaging	1.00
R1519:Sh3d21	UTSW	4	126,045,519 (GRCm39)	nonsense	probably null
R1864:Sh3d21	UTSW	4	126,044,729 (GRCm39)	critical splice acceptor site	probably null
R1986:Sh3d21	UTSW	4	126,056,290 (GRCm39)	missense	probably damaging	1.00
R3429:Sh3d21	UTSW	4	126,056,625 (GRCm39)	missense	probably benign	0.25
R3430:Sh3d21	UTSW	4	126,056,625 (GRCm39)	missense	probably benign	0.25
R4244:Sh3d21	UTSW	4	126,044,511 (GRCm39)	unclassified	probably benign
R4501:Sh3d21	UTSW	4	126,056,652 (GRCm39)	frame shift	probably null
R5117:Sh3d21	UTSW	4	126,045,665 (GRCm39)	missense	probably damaging	1.00
R5249:Sh3d21	UTSW	4	126,055,858 (GRCm39)	unclassified	probably benign
R5293:Sh3d21	UTSW	4	126,046,050 (GRCm39)	missense	probably benign	0.18
R5556:Sh3d21	UTSW	4	126,056,029 (GRCm39)	missense	possibly damaging	0.50
R7085:Sh3d21	UTSW	4	126,056,884 (GRCm39)	missense	probably benign	0.02
R7247:Sh3d21	UTSW	4	126,045,908 (GRCm39)	missense	probably benign	0.00
R7564:Sh3d21	UTSW	4	126,044,937 (GRCm39)	missense	probably benign	0.13
R8262:Sh3d21	UTSW	4	126,055,775 (GRCm39)	missense	probably benign	0.03
R9047:Sh3d21	UTSW	4	126,046,131 (GRCm39)	unclassified	probably benign
R9295:Sh3d21	UTSW	4	126,045,276 (GRCm39)	missense	possibly damaging	0.83

Predicted Primers

PCR Primer
(F):5'- TTGAAAGTGTCCTGGAACACAC -3'
(R):5'- CATCGAATCAAAGCCTGTCAG -3'

Sequencing Primer
(F):5'- CACACGAGCAACTTGTGAGTCG -3'
(R):5'- AAGCCTGTCAGGAGAGTGCTC -3'

Posted On

2016-04-27