Mutagenetix > Incidental Mutation

Incidental Mutation 'R8492:Shld2'

658074

Institutional Source

Beutler Lab

Gene Symbol

Shld2

Ensembl Gene

ENSMUSG00000041471

Gene Name

shieldin complex subunit 2

Synonyms

3110001K24Rik, Fam35a

MMRRC Submission

067934-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.106) question?

Stock #

R8492 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

33958990-34032450 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 33967189 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 122 (K122N)

Ref Sequence

ENSEMBL: ENSMUSP00000154214 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000111917] [ENSMUST00000228704]

AlphaFold

Q3UEN2

Predicted Effect

probably damaging
Transcript: ENSMUST00000111917
AA Change: K674N

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000107548
Gene: ENSMUSG00000041471
AA Change: K674N

Domain	Start	End	E-Value	Type
low complexity region	66	75	N/A	INTRINSIC
low complexity region	163	177	N/A	INTRINSIC
Pfam:FAM35_C	694	866	4.6e-84	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000228704
AA Change: K122N

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (68/68)

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	G	A	10: 29,094,243 (GRCm39)	R43K	possibly damaging	Het
Abcc2	A	T	19: 43,793,410 (GRCm39)	Y354F	probably benign	Het
Aloxe3	A	T	11: 69,017,301 (GRCm39)	T25S	possibly damaging	Het
Als2	T	C	1: 59,250,503 (GRCm39)	K414E	probably damaging	Het
Ankmy2	A	T	12: 36,226,590 (GRCm39)	I95F	probably damaging	Het
Ankrd35	T	G	3: 96,589,529 (GRCm39)		probably null	Het
Ap3b1	A	G	13: 94,531,294 (GRCm39)	N91S	possibly damaging	Het
Apip	T	A	2: 102,922,866 (GRCm39)	L228H	probably damaging	Het
Arhgap23	A	G	11: 97,365,847 (GRCm39)	Y488C	probably damaging	Het
Asah2	G	A	19: 31,983,659 (GRCm39)	T595M	probably benign	Het
Ccdc174	G	C	6: 91,865,138 (GRCm39)	R132T	probably benign	Het
Ccng2	A	C	5: 93,419,313 (GRCm39)	H233P	probably damaging	Het
Cemip	A	G	7: 83,622,422 (GRCm39)	F586L	probably damaging	Het
Cenpf	A	G	1: 189,390,926 (GRCm39)	S969P	probably damaging	Het
Cep170b	G	A	12: 112,711,134 (GRCm39)	D1505N	probably damaging	Het
Colec12	T	A	18: 9,876,980 (GRCm39)		probably null	Het
Cytip	A	G	2: 58,027,869 (GRCm39)		probably null	Het
D630045J12Rik	A	T	6: 38,167,525 (GRCm39)	S1026T	probably damaging	Het
Disc1	T	A	8: 125,817,177 (GRCm39)	D372E	probably damaging	Het
Dlgap2	A	T	8: 14,828,271 (GRCm39)	M560L	possibly damaging	Het
Dync2li1	C	A	17: 84,957,134 (GRCm39)		probably null	Het
Eif3c	C	T	7: 126,162,282 (GRCm39)	G180D	probably damaging	Het
G530012D18Rik	C	G	1: 85,504,935 (GRCm39)	D113E	unknown	Het
G6pc2	A	G	2: 69,050,586 (GRCm39)	I70M	probably damaging	Het
Gm5145	A	T	17: 20,790,681 (GRCm39)	I20F	probably damaging	Het
Hba-x	T	A	11: 32,227,921 (GRCm39)	F128L	probably benign	Het
Hspb1	G	A	5: 135,918,222 (GRCm39)	E190K	possibly damaging	Het
Ift122	T	A	6: 115,863,966 (GRCm39)	S246T	probably benign	Het
Inppl1	A	T	7: 101,475,985 (GRCm39)	S828T	probably damaging	Het
Krt84	C	A	15: 101,438,051 (GRCm39)	Q301H	probably damaging	Het
Malrd1	T	G	2: 15,614,934 (GRCm39)	S250A		Het
Mettl21e	A	G	1: 44,245,553 (GRCm39)	I231T	probably damaging	Het
Miip	T	C	4: 147,945,881 (GRCm39)	D341G	probably damaging	Het
Ncoa1	T	C	12: 4,313,473 (GRCm39)	D1287G	probably damaging	Het
Ndufb5	T	G	3: 32,805,377 (GRCm39)		probably null	Het
Neb	T	C	2: 52,203,224 (GRCm39)	E309G	probably damaging	Het
Nf1	T	A	11: 79,299,248 (GRCm39)	F199I	probably benign	Het
Or12k7	T	A	2: 36,958,695 (GRCm39)	I126N	probably damaging	Het
Pcdhgc3	T	A	18: 37,940,347 (GRCm39)	Y249*	probably null	Het
Plekhg3	G	T	12: 76,622,790 (GRCm39)	V677L	probably benign	Het
Ppm1f	T	C	16: 16,733,042 (GRCm39)	Y25H	probably damaging	Het
Prok2	A	T	6: 99,691,437 (GRCm39)	H75Q	probably benign	Het
Ralgapa2	A	T	2: 146,184,524 (GRCm39)	H1494Q	possibly damaging	Het
Rapgef6	T	G	11: 54,581,063 (GRCm39)	I1277S	probably damaging	Het
Rhob	G	T	12: 8,549,531 (GRCm39)	Y34*	probably null	Het
Rnf141	T	G	7: 110,436,407 (GRCm39)	D7A	probably benign	Het
Robo1	T	C	16: 72,809,911 (GRCm39)	S1220P	probably benign	Het
Rpl13a	A	G	7: 44,775,945 (GRCm39)	V48A	possibly damaging	Het
Serpinb9f	C	A	13: 33,518,587 (GRCm39)	H362Q	probably damaging	Het
Slc22a8	G	T	19: 8,571,595 (GRCm39)	V109L	probably damaging	Het
Slc5a10	A	G	11: 61,564,809 (GRCm39)	V390A	probably benign	Het
Snx14	T	C	9: 88,263,869 (GRCm39)	N839D	possibly damaging	Het
Taf1c	G	A	8: 120,325,456 (GRCm39)	T802I	probably benign	Het
Tdh	C	A	14: 63,730,269 (GRCm39)	D337Y	probably damaging	Het
Tmem156	A	T	5: 65,222,438 (GRCm39)	Y255N	possibly damaging	Het
Tmpo	C	A	10: 90,997,720 (GRCm39)	R689L	probably benign	Het
Trim56	A	C	5: 137,141,783 (GRCm39)	C578G	probably benign	Het
Triobp	C	T	15: 78,878,326 (GRCm39)	H1750Y	possibly damaging	Het
Trpv3	G	A	11: 73,179,035 (GRCm39)	W481*	probably null	Het
Tssk3	T	C	4: 129,383,445 (GRCm39)	M76V	probably benign	Het
Vmn1r215	A	T	13: 23,260,056 (GRCm39)	Y32F	possibly damaging	Het
Vmn1r53	A	G	6: 90,200,394 (GRCm39)	I310T	possibly damaging	Het
Vmn2r112	A	G	17: 22,821,470 (GRCm39)	T148A	probably benign	Het
Zdhhc14	G	A	17: 5,762,689 (GRCm39)	V198I	probably damaging	Het
Zfp109	T	C	7: 23,927,499 (GRCm39)	R637G	possibly damaging	Het
Zic5	G	T	14: 122,702,474 (GRCm39)	Q86K	unknown	Het
Zzef1	T	A	11: 72,777,572 (GRCm39)	M1801K	probably damaging	Het
Zzef1	T	G	11: 72,763,430 (GRCm39)	V1359G	probably damaging	Het

Other mutations in Shld2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00157:Shld2	APN	14	33,990,582 (GRCm39)	missense	probably benign	0.02
IGL00962:Shld2	APN	14	33,971,208 (GRCm39)	missense	probably damaging	1.00
IGL01288:Shld2	APN	14	33,981,600 (GRCm39)	missense	probably benign	0.00
IGL01302:Shld2	APN	14	33,981,684 (GRCm39)	missense	probably benign	0.03
IGL01312:Shld2	APN	14	33,990,150 (GRCm39)	missense	possibly damaging	0.56
IGL01444:Shld2	APN	14	33,959,514 (GRCm39)	missense	probably damaging	1.00
IGL01633:Shld2	APN	14	33,971,136 (GRCm39)	missense	probably damaging	1.00
IGL02251:Shld2	APN	14	33,990,235 (GRCm39)	missense	probably benign	0.10
IGL02927:Shld2	APN	14	33,989,658 (GRCm39)	missense	probably damaging	1.00
IGL03183:Shld2	APN	14	33,967,143 (GRCm39)	missense	probably benign	0.02
IGL03226:Shld2	APN	14	33,990,328 (GRCm39)	missense	probably benign	0.08
R0111:Shld2	UTSW	14	33,989,686 (GRCm39)	missense	probably damaging	0.98
R1170:Shld2	UTSW	14	33,990,448 (GRCm39)	missense	possibly damaging	0.92
R1348:Shld2	UTSW	14	33,990,880 (GRCm39)	missense	probably damaging	1.00
R1467:Shld2	UTSW	14	33,990,619 (GRCm39)	missense	possibly damaging	0.92
R1467:Shld2	UTSW	14	33,990,619 (GRCm39)	missense	possibly damaging	0.92
R1538:Shld2	UTSW	14	33,990,833 (GRCm39)	missense	probably damaging	1.00
R1602:Shld2	UTSW	14	33,989,607 (GRCm39)	missense	probably damaging	1.00
R1650:Shld2	UTSW	14	33,981,574 (GRCm39)	intron	probably benign
R1777:Shld2	UTSW	14	33,990,130 (GRCm39)	missense	probably benign	0.07
R1843:Shld2	UTSW	14	33,989,760 (GRCm39)	missense	probably benign	0.01
R2425:Shld2	UTSW	14	33,990,646 (GRCm39)	missense	probably damaging	0.96
R3837:Shld2	UTSW	14	33,971,142 (GRCm39)	missense	probably damaging	0.99
R3838:Shld2	UTSW	14	33,967,325 (GRCm39)	missense	probably benign	0.01
R3904:Shld2	UTSW	14	33,981,666 (GRCm39)	missense	probably damaging	1.00
R3964:Shld2	UTSW	14	33,981,644 (GRCm39)	missense	probably damaging	1.00
R4322:Shld2	UTSW	14	33,981,632 (GRCm39)	missense	probably damaging	0.99
R4708:Shld2	UTSW	14	33,989,790 (GRCm39)	missense	probably benign	0.17
R4771:Shld2	UTSW	14	33,990,663 (GRCm39)	missense	probably damaging	1.00
R4838:Shld2	UTSW	14	33,990,582 (GRCm39)	missense	probably benign	0.02
R5448:Shld2	UTSW	14	33,990,327 (GRCm39)	missense	probably benign	0.32
R5874:Shld2	UTSW	14	33,967,215 (GRCm39)	missense	probably benign	0.08
R6332:Shld2	UTSW	14	33,990,129 (GRCm39)	missense	probably benign	0.07
R6333:Shld2	UTSW	14	33,989,565 (GRCm39)	missense	probably damaging	1.00
R6476:Shld2	UTSW	14	33,989,971 (GRCm39)	missense	probably benign	0.27
R6576:Shld2	UTSW	14	33,990,199 (GRCm39)	missense	probably damaging	1.00
R7172:Shld2	UTSW	14	33,959,525 (GRCm39)	missense	probably damaging	1.00
R7574:Shld2	UTSW	14	33,959,423 (GRCm39)	missense	probably damaging	1.00
R7725:Shld2	UTSW	14	33,990,661 (GRCm39)	missense	possibly damaging	0.86
R7755:Shld2	UTSW	14	33,970,847 (GRCm39)	missense	probably damaging	0.99
R7840:Shld2	UTSW	14	33,959,523 (GRCm39)	missense	probably damaging	1.00
R7881:Shld2	UTSW	14	33,989,724 (GRCm39)	missense	possibly damaging	0.63
R7947:Shld2	UTSW	14	33,990,436 (GRCm39)	missense	probably benign	0.27
R8192:Shld2	UTSW	14	33,967,173 (GRCm39)	missense	probably benign	0.04
R8443:Shld2	UTSW	14	33,989,942 (GRCm39)	missense	probably benign	0.00
R9323:Shld2	UTSW	14	33,981,596 (GRCm39)	missense	probably damaging	0.98
R9524:Shld2	UTSW	14	33,971,245 (GRCm39)	nonsense	probably null
X0009:Shld2	UTSW	14	33,967,143 (GRCm39)	missense	probably benign	0.02
Z1177:Shld2	UTSW	14	33,990,555 (GRCm39)	missense	probably damaging	1.00
Z1177:Shld2	UTSW	14	33,963,428 (GRCm39)	missense	probably benign	0.31

Predicted Primers

PCR Primer
(F):5'- ATCTGTTCAGCTACTTGTAGAGATC -3'
(R):5'- AATCTGATTCTGAGTGTAGACCC -3'

Sequencing Primer
(F):5'- GCCTCTTTGCTTACAGTG -3'
(R):5'- AGTGTAGACCCTTTATTTTTGTGAC -3'

Posted On

2021-01-18